publicdata/nih-gov
1
0
Fork 0
Code Issues Pull requests Projects Releases Packages Wiki Activity Actions
nih-gov/www.ncbi.nlm.nih.gov/omim/308240

11017 lines
701 KiB
Text
Raw Permalink Blame History

<!DOCTYPE html>
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
<head>
<!--
################################# CRAWLER WARNING #################################
- The terms of service and the robots.txt file disallows crawling of this site,
please see https://omim.org/help/agreement for more information.
- A number of data files are available for download at https://omim.org/downloads.
- We have an API which you can learn about at https://omim.org/help/api and register
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
- You should feel free to contact us at https://omim.org/contact to figure out the best
approach to getting the data you need for your work.
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
DISTRIBUTED CRAWLS OF THIS SITE.
################################# CRAWLER WARNING #################################
-->
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
<meta http-equiv="cache-control" content="no-cache" />
<meta http-equiv="pragma" content="no-cache" />
<meta name="robots" content="index, follow" />
<meta name="viewport" content="width=device-width, initial-scale=1" />
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
contain copious links to other genetics resources." />
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
<meta name="theme-color" content="#333333" />
<link rel="icon" href="/static/omim/favicon.png" />
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
<link rel="manifest" href="/static/omim/manifest.json" />
<script id='mimBrowserCapability'>
function _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
</script>
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
<link rel="preconnect" href="https://www.googletagmanager.com" />
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
<script>
window.dataLayer = window.dataLayer || [];
function gtag(){window.dataLayer.push(arguments);}
gtag("js", new Date());
gtag("config", "G-HMPSQC23JJ");
</script>
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
<div id="mimBootstrapDeviceSize">
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
</div>
<title>
Entry
- #308240 - LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1
- OMIM
</title>
</head>
<body>
<div id="mimBody">
<div id="mimHeader" class="hidden-print">
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
<div class="container-fluid">
<!-- Brand and toggle get grouped for better mobile display -->
<div class="navbar-header">
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
<span class="sr-only"> Toggle navigation </span>
<span class="icon-bar"></span>
<span class="icon-bar"></span>
<span class="icon-bar"></span>
</button>
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
</div>
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
<ul class="nav navbar-nav">
<li>
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
</li>
<li class="dropdown">
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
<li>
<a href="/statistics/update"> Update List </a>
</li>
<li>
<a href="/statistics/entry"> Entry Statistics </a>
</li>
<li>
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
</li>
<li>
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
</li>
</ul>
</li>
<li class="dropdown">
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
<li>
<a href="/downloads/"> Register for Downloads </a>
</li>
<li>
<a href="/api"> Register for API Access </a>
</li>
</ul>
</li>
<li>
<a href="/contact?mimNumber=308240"><span class="mim-navbar-menu-font"> Contact Us </span></a>
</li>
<li>
<a href="/mimmatch/">
<span class="mim-navbar-menu-font">
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
MIMmatch
</span>
</span>
</a>
</li>
<li class="dropdown">
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
<li>
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
</li>
<li>
<a href="/donors"> Donors </a>
</li>
</ul>
</li>
<li class="dropdown">
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
<li>
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/search"> Search Help </a>
</li>
<li>
<a href="/help/linking"> Linking Help </a>
</li>
<li>
<a href="/help/api"> API Help </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/external"> External Links </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/agreement"> Use Agreement </a>
</li>
<li>
<a href="/help/copyright"> Copyright </a>
</li>
</ul>
</li>
<li>
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
</li>
</ul>
</div>
</div>
</nav>
</div>
<div id="mimSearch" class="hidden-print">
<div class="container">
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
<input type="hidden" id="mimSearchStart" name="start" value="1" />
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
<div class="row">
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
<div class="form-group">
<div class="input-group">
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
<div class="input-group-btn">
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
<ul class="dropdown-menu dropdown-menu-right">
<li class="dropdown-header">
Advanced Search
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/entry"> OMIM </a>
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/geneMap"> Gene Map </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/history"> Search History </a>
</li>
</ul>
</div>
</div>
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
</div>
</div>
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
<span class="small">
</span>
</div>
</div>
</form>
<div class="row">
<p />
</div>
</div>
</div>
<!-- <div id="mimSearch"> -->
<div id="mimContent">
<div class="container hidden-print">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<div id="mimAlertBanner">
</div>
</div>
</div>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
<div id="mimFloatingTocMenu" class="small" role="navigation">
<p>
<span class="h4">#308240</span>
<br />
<strong>Table of Contents</strong>
</p>
<nav>
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
<li role="presentation">
<a href="#title"><strong>Title</strong></a>
</li>
<li role="presentation">
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
</li>
<li role="presentation">
<a href="/clinicalSynopsis/308240"><strong>Clinical Synopsis</strong></a>
</li>
<li role="presentation">
<a href="/phenotypicSeries/PS300755,PS308240"> <strong>Phenotypic Series</strong> </a>
</li>
<li role="presentation">
<a href="#text"><strong>Text</strong></a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#clinicalManagement">Clinical Management</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#heterogeneity">Heterogeneity</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#pathogenesis">Pathogenesis</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#history">History</a>
</li>
<li role="presentation">
<a href="#seeAlso"><strong>See Also</strong></a>
</li>
<li role="presentation">
<a href="#references"><strong>References</strong></a>
</li>
<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
</li>
<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
</li>
<li role="presentation">
<a href="#editHistory"><strong>Edit History</strong></a>
</li>
</ul>
</nav>
</div>
</div>
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
<div id="mimFloatingLinksMenu">
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
<h4 class="panel-title">
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
<div style="display: table-row">
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">External Links</div>
</div>
</a>
</h4>
</div>
</div>
<div id="mimExternalLinksFold" class="collapse in">
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
<span class="panel-title">
<span class="small">
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=LYMPHOPROLIFERATIVE SYNDROME, X-LINKED" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
<div id="mimEuroGentestFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=275&Typ=Pat" title="X-linked lymphoproliferative disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">X-linked lymphoproliferati…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=27963&Typ=Pat" title="X-linked lymphoproliferative disease due to SAP deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">X-linked lymphoproliferati…&nbsp;</a></div>
</div>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1406/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
<div><a href="https://medlineplus.gov/genetics/condition/x-linked-lymphoproliferative-disease" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=308240[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
<div id="mimOrphanetFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2442" title="X-linked lymphoproliferative disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">X-linked lymphoproliferati…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=538931" title="X-linked lymphoproliferative disease due to SAP deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">X-linked lymphoproliferati…</a></div>
</div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0060705" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/308240" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:308240" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 1162828001<br />
<strong>ORPHA:</strong> 2442, 538931<br />
<strong>DO:</strong> 0060705<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
308240
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
XLP<br />
LYMPHOPROLIFERATIVE DISEASE, X-LINKED; XLPD<br />
LYP<br />
DUNCAN DISEASE<br />
EPSTEIN-BARR VIRUS INFECTION, FAMILIAL FATAL<br />
EBV INFECTION, SEVERE, SUSCEPTIBILITY TO; EBVS<br />
INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO<br />
IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE<br />
IMMUNODEFICIENCY 5; IMD5<br />
PURTILO SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/655?start=-3&limit=10&highlight=655">
Xq25
</a>
</span>
</td>
<td>
<span class="mim-font">
Lymphoproliferative syndrome, X-linked, 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308240"> 308240 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
SH2D1A
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300490"> 300490 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/308240" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS300755,PS308240" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/308240" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/308240" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Nasopharynx </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pharyngitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405737000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0031350&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031350</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025439" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025439</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025439" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025439</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Lymphoid granulomatosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239940004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239940004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/789177000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">789177000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41556003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41556003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C83.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C83.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024307</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
Fulminant hepatitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/427044009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">427044009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0302809&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0302809</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004787</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004787</a>]</span><br /> -
Liver failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59927004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59927004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K72.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K72.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001399" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001399</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001399" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001399</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spleen </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Meningitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7180009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7180009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G03.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G03.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/322.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">322.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">322</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025289&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025289</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001287" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001287</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001287" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001287</a>]</span><br /> -
Encephalitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45170000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45170000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014038</a>]</span><br /> -
Hepatic encephalopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/449902003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">449902003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13920009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13920009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K76.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K76.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/572.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">572.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019151&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019151</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002480</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002480</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEMATOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br /> -
Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
Pancytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127034005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127034005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D61.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D61.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/284.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">284.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001876</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001876</a>]</span><br /> -
Atypical lymphocytosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839973&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839973</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> IMMUNOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Lymphadenopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30746006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30746006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R59.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R59.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R59" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R59</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R59.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R59.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4282165&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4282165</a>, <a href="https://bioportal.bioontology.org/search?q=C0497156&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497156</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002716</a>]</span><br /> -
Combined variable immunodeficiency involving B and T cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839967&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839967</a>]</span><br /> -
Normal number of B cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1873504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1873504</a>]</span><br /> -
Normal number of T cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843525</a>]</span><br /> -
Reduced CD4+/CD8+ ratio with CD8+ predominance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839968&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839968</a>]</span><br /> -
Reduced natural killer cell activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839969&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839969</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012178" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012178</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012178" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012178</a>]</span><br /> -
Fulminant infectious mononucleosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4703482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4703482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031693</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031693</a>]</span><br /> -
Histology shows large regions of necrosis in lymph nodes, thymus, bone marrow, and spleen <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839971&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839971</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEOPLASIA </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hemophagocytic lymphohistiocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234437005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234437005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D76.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D76.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024291&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024291</a>]</span><br /> -
Lymphoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1163043007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1163043007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/188676008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">188676008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/118600007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">118600007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C85.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C85.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024299</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002665</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002665</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Reduced IgG levels <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123785006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123785006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4520847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4520847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004315</a>]</span><br /> -
Increased IgM levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839972</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003496</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003496</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Reduced life expectancy, death by 10 years of age in 70% of patients<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutations in the SH2 domain protein 1A gene (SH2D1A, <a href="/entry/300490#0001">300490.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Immunodeficiency (select examples)
- <a href="/phenotypicSeries/PS300755">PS300755</a>
- 143 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/25?start=-3&limit=10&highlight=25"> 1p36.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616126"> Immunodeficiency 38 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616126"> 616126 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147571"> ISG15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147571"> 147571 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/31?start=-3&limit=10&highlight=31"> 1p36.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615593"> ?Immunodeficiency 16 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615593"> 615593 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600315"> TNFRSF4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600315"> 600315 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/114?start=-3&limit=10&highlight=114"> 1p36.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620282"> Immunodeficiency 109 with lymphoproliferation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620282"> 620282 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602250"> TNFRSF9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602250"> 602250 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/128?start=-3&limit=10&highlight=128"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619281"> Immunodeficiency 14B, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619281"> 619281 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602839"> PIK3CD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602839"> 602839 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/128?start=-3&limit=10&highlight=128"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615513"> Immunodeficiency 14A, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615513"> 615513 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602839"> PIK3CD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602839"> 602839 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/397?start=-3&limit=10&highlight=397"> 1p35.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615758"> Immunodeficiency 22 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615758"> 615758 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/153390"> LCK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/153390"> 153390 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/497?start=-3&limit=10&highlight=497"> 1p34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615897"> Immunodeficiency 24 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615897"> 615897 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123860"> CTPS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123860"> 123860 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/763?start=-3&limit=10&highlight=763"> 1p22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616098"> ?Immunodeficiency 37 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616098"> 616098 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603517"> BCL10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603517"> 603517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1109?start=-3&limit=10&highlight=1109"> 1q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616622"> Immunodeficiency 42 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616622"> 616622 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602943"> RORC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602943"> 602943 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1353?start=-3&limit=10&highlight=1353"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615707"> Immunodeficiency 20 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615707"> 615707 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146740"> FCGR3A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146740"> 146740 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1386?start=-3&limit=10&highlight=1386"> 1q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610163"> ?Immunodeficiency 25 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610163"> 610163 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186780"> CD247 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186780"> 186780 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1491?start=-3&limit=10&highlight=1491"> 1q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620565"> Immunodeficiency 113 with autoimmunity and autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620565"> 620565 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604227"> ARPC5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604227"> 604227 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1501?start=-3&limit=10&highlight=1501"> 1q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618969"> Immunodeficiency 70 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618969"> 618969 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609209"> IVNS1ABP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609209"> 609209 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1541?start=-3&limit=10&highlight=1541"> 1q31.3-q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619924"> Immunodeficiency 105, severe combined </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619924"> 619924 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/151460"> PTPRC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/151460"> 151460 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/277?start=-3&limit=10&highlight=277"> 2p16.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619652"> Immunodeficiency 92 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619652"> 619652 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164910"> REL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164910"> 164910 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/446?start=-3&limit=10&highlight=446"> 2p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608957"> Immunodeficiency 116 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608957"> 608957 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186910"> CD8A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186910"> 186910 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/491?start=-3&limit=10&highlight=491"> 2q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/269840"> Immunodeficiency 48 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/269840"> 269840 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176947"> ZAP70 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176947"> 176947 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/727?start=-3&limit=10&highlight=727"> 2q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619773"> Immunodeficiency 95 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619773"> 619773 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606951"> IFIH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606951"> 606951 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/872?start=-3&limit=10&highlight=872"> 2q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613796"> Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613796"> 613796 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> STAT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> 600555 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/872?start=-3&limit=10&highlight=872"> 2q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614162"> Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614162"> 614162 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> STAT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> 600555 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/872?start=-3&limit=10&highlight=872"> 2q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614892"> Immunodeficiency 31A, mycobacteriosis, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614892"> 614892 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> STAT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600555"> 600555 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/933?start=-3&limit=10&highlight=933"> 2q33.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620901"> ?Immunodeficiency 123 with HPV-related verrucosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620901"> 620901 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186760"> CD28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186760"> 186760 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1028?start=-3&limit=10&highlight=1028"> 2q35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611291"> Immunodeficiency 124, severe combined </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611291"> 611291 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611290"> NHEJ1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611290"> 611290 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/174?start=-3&limit=10&highlight=174"> 3p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612260"> Immunodeficiency 68 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612260"> 612260 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602170"> MYD88 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602170"> 602170 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/651?start=-3&limit=10&highlight=651"> 3q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614172"> Immunodeficiency 21 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614172"> 614172 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137295"> GATA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137295"> 137295 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/659?start=-3&limit=10&highlight=659"> 3q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620983"> ?Immunodeficiency 128 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620983"> 620983 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615525"> COPG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615525"> 615525 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/990?start=-3&limit=10&highlight=990"> 3q29 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616740"> Immunodeficiency 46 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616740"> 616740 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190010"> TFRC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190010"> 190010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/167?start=-3&limit=10&highlight=167"> 4p14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618307"> Immunodeficiency 129 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618307"> 618307 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602037"> RHOH </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602037"> 602037 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/458?start=-3&limit=10&highlight=458"> 4q24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619126"> Immunodeficiency 75 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619126"> 619126 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612839"> TET2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612839"> 612839 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/723?start=-3&limit=10&highlight=723"> 4q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613002"> {Immunodeficiency 83, susceptibility to viral infections} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613002"> 613002 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603029"> TLR3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603029"> 603029 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/59?start=-3&limit=10&highlight=59"> 5p15.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619986"> {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619986"> 619986 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615712"> OTULIN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615712"> 615712 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/106?start=-3&limit=10&highlight=106"> 5p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608971"> Immunodeficiency 104, severe combined </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608971"> 608971 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146661"> IL7R </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146661"> 146661 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/177?start=-3&limit=10&highlight=177"> 5q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619750"> ?Immunodeficiency 94 with autoinflammation and dysmorphic facies </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619750"> 619750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600694"> IL6ST </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600694"> 600694 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/218?start=-3&limit=10&highlight=218"> 5q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616005"> Immunodeficiency 36 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616005"> 616005 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/171833"> PIK3R1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/171833"> 171833 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/440?start=-3&limit=10&highlight=440"> 5q31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619705"> Immunodeficiency 93 and hypertrophic cardiomyopathy </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619705"> 619705 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610594"> FNIP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610594"> 610594 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/449?start=-3&limit=10&highlight=449"> 5q31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620668"> Immunodeficiency 117, mycobacteriosis, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620668"> 620668 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147575"> IRF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147575"> 147575 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/721?start=-3&limit=10&highlight=721"> 5q33.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614890"> Immunodeficiency 29, mycobacteriosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614890"> 614890 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/161561"> IL12B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/161561"> 161561 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/750?start=-3&limit=10&highlight=750"> 5q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616433"> Immunodeficiency 40 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616433"> 616433 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603122"> DOCK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603122"> 603122 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/752?start=-3&limit=10&highlight=752"> 5q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619374"> Immunodeficiency 81 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619374"> 619374 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601603"> LCP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601603"> 601603 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/7?start=-3&limit=10&highlight=7"> 6p25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621097"> Immunodeficiency 131 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621097"> 621097 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601900"> IRF4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601900"> 601900 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/20?start=-3&limit=10&highlight=20"> 6p25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618108"> Immunodeficiency 57 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618108"> 618108 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603453"> RIPK1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603453"> 603453 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/311?start=-3&limit=10&highlight=311"> 6p21.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620977"> ?Immunodeficiency 127 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620977"> 620977 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191160"> TNF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191160"> 191160 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/425?start=-3&limit=10&highlight=425"> 6p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619573"> Immunodeficiency 87 and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619573"> 619573 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610094"> DEF6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610094"> 610094 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/506?start=-3&limit=10&highlight=506"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620931"> Immunodeficiency 126 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620931"> 620931 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606817"> PTCRA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606817"> 606817 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/675?start=-3&limit=10&highlight=675"> 6q14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615816"> Immunodeficiency 23 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615816"> 615816 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172100"> PGM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172100"> 172100 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/710?start=-3&limit=10&highlight=710"> 6q15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618394"> Immunodeficiency 60 and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618394"> 618394 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605394"> BACH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605394"> 605394 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/893?start=-3&limit=10&highlight=893"> 6q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615978"> Immunodeficiency 27B, mycobacteriosis, AD </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615978"> 615978 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107470"> IFNGR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107470"> 107470 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/893?start=-3&limit=10&highlight=893"> 6q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/209950"> Immunodeficiency 27A, mycobacteriosis, AR </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/209950"> 209950 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107470"> IFNGR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107470"> 107470 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/33?start=-3&limit=10&highlight=33"> 7p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615206"> Immunodeficiency 11A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615206"> 615206 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607210"> CARD11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607210"> 607210 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/33?start=-3&limit=10&highlight=33"> 7p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617638"> Immunodeficiency 11B with atopic dermatitis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617638"> 617638 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607210"> CARD11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607210"> 607210 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/461?start=-3&limit=10&highlight=461"> 7q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617718"> Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617718"> 617718 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604223"> ARPC1B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604223"> 604223 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/571?start=-3&limit=10&highlight=571"> 7q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619802"> Immunodeficiency 97 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619802"> 619802 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601232"> PIK3CG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601232"> 601232 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/232?start=-3&limit=10&highlight=232"> 8p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615592"> Immunodeficiency 15B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615592"> 615592 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603258"> IKBKB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603258"> 603258 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/232?start=-3&limit=10&highlight=232"> 8p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618204"> Immunodeficiency 15A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618204"> 618204 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603258"> IKBKB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603258"> 603258 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/253?start=-3&limit=10&highlight=253"> 8q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615966"> Immunodeficiency 26, with or without neurologic abnormalities </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615966"> 615966 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600899"> PRKDC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600899"> 600899 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/254?start=-3&limit=10&highlight=254"> 8q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609981"> Immunodeficiency 54 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609981"> 609981 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602638"> MCM4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602638"> 602638 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/358?start=-3&limit=10&highlight=358"> 8q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618309"> Immunodeficiency 130 with HPV-related verrucosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618309"> 618309 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146660"> IL7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146660"> 146660 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/297?start=-3&limit=10&highlight=297"> 9q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619381"> Immunodeficiency 82 with systemic inflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619381"> 619381 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600085"> SYK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600085"> 600085 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/650?start=-3&limit=10&highlight=650"> 9q34.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212050"> Immunodeficiency 103, susceptibility to fungal infection </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/212050"> 212050 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607212"> CARD9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607212"> 607212 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/35?start=-3&limit=10&highlight=35"> 10p15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606367"> Immunodeficiency 41 with lymphoproliferation and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606367"> 606367 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147730"> IL2RA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147730"> 147730 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/62?start=-3&limit=10&highlight=62"> 10p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619313"> Immunodeficiency 80 with or without cardiomyopathy </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619313"> 619313 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609357"> MCM10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609357"> 609357 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/33?start=-3&limit=10&highlight=33"> 11p15.5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616345"> ?Immunodeficiency 39 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616345"> 616345 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605047"> IRF7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605047"> 605047 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/103?start=-3&limit=10&highlight=103"> 11p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612783"> Immunodeficiency 10 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612783"> 612783 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605921"> STIM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605921"> 605921 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/415?start=-3&limit=10&highlight=415"> 11q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619223"> Immunodeficiency 77 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619223"> 619223 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610390"> MPEG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610390"> 610390 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/703?start=-3&limit=10&highlight=703"> 11q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613759"> Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613759"> 613759 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602457"> FADD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602457"> 602457 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/748?start=-3&limit=10&highlight=748"> 11q13.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620869"> Immunodeficiency 122 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620869"> 620869 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611415"> POLD3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611415"> 611415 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/981?start=-3&limit=10&highlight=981"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615615"> Immunodeficiency 18, SCID variant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615615"> 615615 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186830"> CD3E </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186830"> 186830 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/981?start=-3&limit=10&highlight=981"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615615"> Immunodeficiency 18 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615615"> 615615 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186830"> CD3E </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186830"> 186830 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/982?start=-3&limit=10&highlight=982"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615617"> Immunodeficiency 19, severe combined </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615617"> 615617 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186790"> CD3D </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186790"> 186790 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/983?start=-3&limit=10&highlight=983"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615607"> Immunodeficiency 17, CD3 gamma deficient </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615607"> 615607 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186740"> CD3G </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186740"> 186740 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1002?start=-3&limit=10&highlight=1002"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/233600"> ?Immunodeficiency 59 and hypoglycemia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/233600"> 233600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601746"> HYOU1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601746"> 601746 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/70?start=-3&limit=10&highlight=70"> 12p13.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619238"> Immunodeficiency 79 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619238"> 619238 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186940"> CD4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186940"> 186940 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/300?start=-3&limit=10&highlight=300"> 12q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607676"> Immunodeficiency 67 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607676"> 607676 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606883"> IRAK4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606883"> 606883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/470?start=-3&limit=10&highlight=470"> 12q13.13-q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618982"> Immunodeficiency 72 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618982"> 618982 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/141180"> NCKAP1L </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/141180"> 141180 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/512?start=-3&limit=10&highlight=512"> 12q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616636"> Immunodeficiency 44 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616636"> 616636 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600556"> STAT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600556"> 600556 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/598?start=-3&limit=10&highlight=598"> 12q15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618963"> ?Immunodeficiency 69, mycobacteriosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618963"> 618963 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147570"> IFNG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147570"> 147570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/825?start=-3&limit=10&highlight=825"> 12q24.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618042"> Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618042"> 618042 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164350"> OAS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164350"> 164350 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/895?start=-3&limit=10&highlight=895"> 12q24.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612782"> Immunodeficiency 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612782"> 612782 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610277"> ORAI1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610277"> 610277 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/294?start=-3&limit=10&highlight=294"> 13q33.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619220"> Immunodeficiency 78 with autoimmunity and developmental delay </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619220"> 619220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190470"> TPP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190470"> 190470 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/61?start=-3&limit=10&highlight=61"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615387"> Immunodeficiency 7, TCR-alpha/beta deficient </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615387"> 615387 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186880"> TRAC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186880"> 186880 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/79?start=-3&limit=10&highlight=79"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/260570"> ?Immunodeficiency 108 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/260570"> 260570 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600749"> CEBPE </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600749"> 600749 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/116?start=-3&limit=10&highlight=116"> 14q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620632"> Immunodeficiency 115 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620632"> 620632 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612487"> RNF31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612487"> 612487 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/117?start=-3&limit=10&highlight=117"> 14q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618648"> Immunodeficiency 65, susceptibility to viral infections </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618648"> 618648 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147574"> IRF9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147574"> 147574 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/515?start=-3&limit=10&highlight=515"> 14q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617237"> Immunodeficiency 49, severe combined </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617237"> 617237 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606558"> BCL11B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606558"> 606558 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/567?start=-3&limit=10&highlight=567"> 14q32.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614849"> Immunodeficiency 132A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614849"> 614849 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601896"> TRAF3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601896"> 601896 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/567?start=-3&limit=10&highlight=567"> 14q32.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621096"> Immunodeficiency 132B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621096"> 621096 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601896"> TRAF3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601896"> 601896 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/85?start=-3&limit=10&highlight=85"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618534"> Immunodeficiency 64 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618534"> 618534 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603962"> RASGRP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603962"> 603962 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/170?start=-3&limit=10&highlight=170"> 15q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/241600"> Immunodeficiency 43 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/241600"> 241600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/109700"> B2M </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/109700"> 109700 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/209?start=-3&limit=10&highlight=209"> 15q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619549"> Immunodeficiency 86, mycobacteriosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619549"> 619549 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608238"> SPPL2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608238"> 608238 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/295?start=-3&limit=10&highlight=295"> 16p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615207"> Immunodeficiency 56 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615207"> 615207 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605383"> IL21R </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605383"> 605383 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/321?start=-3&limit=10&highlight=321"> 16p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617514"> Immunodeficiency 52 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617514"> 617514 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602354"> LAT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602354"> 602354 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/348?start=-3&limit=10&highlight=348"> 16p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615401"> Immunodeficiency 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615401"> 615401 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605000"> CORO1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605000"> 605000 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/553?start=-3&limit=10&highlight=553"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618131"> Immunodeficiency 58 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618131"> 618131 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610859"> CARMIL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610859"> 610859 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/566?start=-3&limit=10&highlight=566"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620807"> Immunodeficiency 121 with autoinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620807"> 620807 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176847"> PSMB10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176847"> 176847 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/711?start=-3&limit=10&highlight=711"> 16q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/226990"> Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/226990"> 226990 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601565"> IRF8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601565"> 601565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/711?start=-3&limit=10&highlight=711"> 16q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614893"> Immunodeficiency 32A, mycobacteriosis, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614893"> 614893 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601565"> IRF8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601565"> 601565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/340?start=-3&limit=10&highlight=340"> 17q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615518"> ?Immunodeficiency 13 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615518"> 615518 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604011"> UNC119 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604011"> 604011 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/494?start=-3&limit=10&highlight=494"> 17q12-q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619437"> ?Immunodeficiency 84 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619437"> 619437 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606221"> IKZF3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606221"> 606221 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/658?start=-3&limit=10&highlight=658"> 17q21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620449"> Immunodeficiency 112 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620449"> 620449 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604655"> MAP3K14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604655"> 604655 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/678?start=-3&limit=10&highlight=678"> 17q21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619630"> ?Immunodeficiency 88 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619630"> 619630 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604895"> TBX21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604895"> 604895 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/212?start=-3&limit=10&highlight=212"> 18q21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615468"> Immunodeficiency 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615468"> 615468 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604860"> MALT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604860"> 604860 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/145?start=-3&limit=10&highlight=145"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620331"> Hatipoglu immunodeficiency syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620331"> 620331 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608258"> DPP9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608258"> 608258 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/270?start=-3&limit=10&highlight=270"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611521"> Immunodeficiency 35 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611521"> 611521 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176941"> TYK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176941"> 176941 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/444?start=-3&limit=10&highlight=444"> 19p13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619164"> Immunodeficiency 76 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619164"> 619164 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613437"> FCHO1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613437"> 613437 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/451?start=-3&limit=10&highlight=451"> 19p13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614891"> Immunodeficiency 30 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614891"> 614891 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601604"> IL12RB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601604"> 601604 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/743?start=-3&limit=10&highlight=743"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618459"> ?Immunodeficiency 62 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618459"> 618459 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601855"> ARHGEF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601855"> 601855 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/808?start=-3&limit=10&highlight=808"> 19q13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617585"> ?Immunodeficiency 53 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617585"> 617585 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604758"> RELB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604758"> 604758 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/888?start=-3&limit=10&highlight=888"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619774"> Immunodeficiency 96 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619774"> 619774 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/126391"> LIG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/126391"> 126391 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/947?start=-3&limit=10&highlight=947"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620926"> ?Immunodeficiency 125 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620926"> 620926 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600007"> FLT3LG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600007"> 600007 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/981?start=-3&limit=10&highlight=981"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620836"> Immunodeficiency 120 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620836"> 620836 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/174761"> POLD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/174761"> 174761 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/124?start=-3&limit=10&highlight=124"> 20p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619872"> ?Immunodeficiency 101 (varicella zoster virus-specific) </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619872"> 619872 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617455"> POLR3F </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617455"> 617455 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/169?start=-3&limit=10&highlight=169"> 20p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617827"> Immunodeficiency 55 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617827"> 617827 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610608"> GINS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610608"> 610608 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/271?start=-3&limit=10&highlight=271"> 20q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619846"> ?Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619846"> 619846 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611537"> CTNNBL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611537"> 611537 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/321?start=-3&limit=10&highlight=321"> 20q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614868"> T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614868"> 614868 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604965"> STK4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604965"> 604965 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/373?start=-3&limit=10&highlight=373"> 20q13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619644"> Immunodeficiency 91 and hyperinflammation </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619644"> 619644 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618931"> ZNFX1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618931"> 618931 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/66?start=-3&limit=10&highlight=66"> 21q22.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616669"> Immunodeficiency 45 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616669"> 616669 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602376"> IFNAR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602376"> 602376 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/68?start=-3&limit=10&highlight=68"> 21q22.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619935"> Immunodeficiency 106, susceptibility to viral infections </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619935"> 619935 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107450"> IFNAR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107450"> 107450 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/69?start=-3&limit=10&highlight=69"> 21q22.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614889"> Immunodeficiency 28, mycobacteriosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614889"> 614889 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147569"> IFNGR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147569"> 147569 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/155?start=-3&limit=10&highlight=155"> 21q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620825"> ?Immunodeficiency 119 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620825"> 620825 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605717"> ICOSLG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605717"> 605717 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/172?start=-3&limit=10&highlight=172"> 21q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620603"> Immunodeficiency 114, folate-responsive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620603"> 620603 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600424"> SLC19A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600424"> 600424 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/9?start=-3&limit=10&highlight=9"> 22q11.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613953"> Immunodeficiency 51 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613953"> 613953 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605461"> IL17RA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605461"> 605461 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/210?start=-3&limit=10&highlight=210"> 22q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619510"> ?Immunodeficiency 85 and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619510"> 619510 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604700"> TOM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604700"> 604700 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/236?start=-3&limit=10&highlight=236"> 22q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618495"> Immunodeficiency 63 with lymphoproliferation and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618495"> 618495 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146710"> IL2RB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146710"> 146710 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/243?start=-3&limit=10&highlight=243"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618987"> ?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618987"> 618987 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> RAC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> 602049 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/243?start=-3&limit=10&highlight=243"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618986"> Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618986"> 618986 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> RAC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> 602049 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/243?start=-3&limit=10&highlight=243"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608203"> Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608203"> 608203 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> RAC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602049"> 602049 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/247?start=-3&limit=10&highlight=247"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619632"> ?Immunodeficiency 89 and autoimmunity </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619632"> 619632 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607209"> CARD10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607209"> 607209 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/308?start=-3&limit=10&highlight=308"> 22q13.1-q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618847"> ?Immunodeficiency 66 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618847"> 618847 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606078"> MKL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606078"> 606078 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/61?start=-3&limit=10&highlight=61"> Xp22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301051"> Immunodeficiency 74, COVID19-related, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301051"> 301051 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300365"> TLR7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300365"> 300365 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/62?start=-3&limit=10&highlight=62"> Xp22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301078"> Immunodeficiency 98 with autoinflammation, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Somatic mosaicism">SMo</abbr>, <abbr class="mim-tip-hint" title="X-linked">XL</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301078"> 301078 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300366"> TLR8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300366"> 300366 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/106?start=-3&limit=10&highlight=106"> Xp22.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300310"> ?Immunodeficiency 61 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300310"> 300310 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300374"> SH3KBP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300374"> 300374 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/157?start=-3&limit=10&highlight=157"> Xp21.1-p11.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300645"> Immunodeficiency 34, mycobacteriosis, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300645"> 300645 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300481"> CYBB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300481"> 300481 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/253?start=-3&limit=10&highlight=253"> Xp11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301000"> Wiskott-Aldrich syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301000"> 301000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300392"> WAS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300392"> 300392 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/373?start=-3&limit=10&highlight=373"> Xq12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300988"> Immunodeficiency 50 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300988"> 300988 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/309845"> MSN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/309845"> 309845 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/403?start=-3&limit=10&highlight=403"> Xq13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300400"> Severe combined immunodeficiency, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300400"> 300400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308380"> IL2RG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308380"> 308380 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/403?start=-3&limit=10&highlight=403"> Xq13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312863"> Combined immunodeficiency, X-linked, moderate </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312863"> 312863 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308380"> IL2RG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308380"> 308380 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/500?start=-3&limit=10&highlight=500"> Xq22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300755"> Agammaglobulinemia, X-linked 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300755"> 300755 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300300"> BTK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300300"> 300300 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/629?start=-3&limit=10&highlight=629"> Xq24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301115"> Immunodeficiency 118, mycobacteriosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301115"> 301115 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300587"> MCTS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300587"> 300587 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/655?start=-3&limit=10&highlight=655"> Xq25 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308240"> Lymphoproliferative syndrome, X-linked, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308240"> 308240 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300490"> SH2D1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300490"> 300490 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/670?start=-3&limit=10&highlight=670"> Xq26.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301082"> Immunodeficiency 102 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301082"> 301082 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300441"> SASH3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300441"> 300441 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/724?start=-3&limit=10&highlight=724"> Xq26.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308230"> Immunodeficiency, X-linked, with hyper-IgM </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308230"> 308230 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300386"> TNFSF5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300386"> 300386 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/862?start=-3&limit=10&highlight=862"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300972"> Immunodeficiency 47 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300972"> 300972 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300197"> ATP6AP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300197"> 300197 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/871?start=-3&limit=10&highlight=871"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300636"> Immunodeficiency 33 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300636"> 300636 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300248"> IKBKG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300248"> 300248 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Lymphoproliferative syndrome
- <a href="/phenotypicSeries/PS308240">PS308240</a>
- 5 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/710?start=-3&limit=10&highlight=710"> 5q33.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613011"> Lymphoproliferative syndrome 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613011"> 613011 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186973"> ITK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186973"> 186973 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/51?start=-3&limit=10&highlight=51"> 12p13.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615122"> Lymphoproliferative syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615122"> 615122 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186711"> CD27 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186711"> 186711 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/187?start=-3&limit=10&highlight=187"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618261"> Lymphoproliferative syndrome 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618261"> 618261 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602840"> CD70 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602840"> 602840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/652?start=-3&limit=10&highlight=652"> Xq25 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300635"> Lymphoproliferative syndrome, X-linked, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300635"> 300635 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300079"> XIAP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300079"> 300079 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/655?start=-3&limit=10&highlight=655"> Xq25 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308240"> Lymphoproliferative syndrome, X-linked, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308240"> 308240 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300490"> SH2D1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300490"> 300490 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because X-linked lymphoproliferative syndrome-1 (XLP1) is caused by mutation in the SH2D1A gene (<a href="/entry/300490">300490</a>), encoding SLAM-associated protein (SAP), on chromosome Xq25.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>X-linked lymphoproliferative syndrome, or Duncan disease, is a primary immunodeficiency characterized by severe immune dysregulation often after viral infection, typically with Epstein-Barr virus (EBV). It is a complex phenotype manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis (HLH), and/or malignant lymphoma. Other features may include aplastic anemia, red cell aplasia, and lymphomatoid granulomatosis (<a href="#24" class="mim-tip-reference" title="Purtilo, D. T., DeFlorio, D., Jr., Hutt, L. M., Bhawan, J., Yang, J. P. S., Otto, R. L., Edwards, W. &lt;strong&gt;Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome.&lt;/strong&gt; New Eng. J. Med. 297: 1077-1081, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/198660/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;198660&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM197711172972001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="198660">Purtilo et al., 1977</a>; <a href="#29" class="mim-tip-reference" title="Purtilo, D. T. &lt;strong&gt;X-linked lymphoproliferative syndrome: an immunodeficiency disorder with acquired agammaglobulinemia, fatal infectious mononucleosis, or malignant lymphoma.&lt;/strong&gt; Arch. Path. Lab. Med. 105: 119-121, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6894075/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6894075&lt;/a&gt;]" pmid="6894075">Purtilo, 1981</a>; <a href="#25" class="mim-tip-reference" title="Purtilo, D. T., Grierson, H. L. &lt;strong&gt;Methods of detection of new families with X-linked lymphoproliferative disease.&lt;/strong&gt; Cancer Genet. Cytogenet. 51: 143-153, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1847089/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1847089&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0165-4608(91)90127-g&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1847089">Purtilo and Grierson, 1991</a>; <a href="#5" class="mim-tip-reference" title="Coffey, A. J., Brooksbank, R. A., Brandau, O., Oohashi, T., Howell, G. R., Bye, J. M., Cahn, A. P., Durham, J., Heath, P., Wray, P., Pavitt, R., Wilkinson, J., and 31 others. &lt;strong&gt;Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.&lt;/strong&gt; Nature Genet. 20: 129-135, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9771704/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9771704&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/2424&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9771704">Coffey et al., 1998</a>; <a href="#3" class="mim-tip-reference" title="Booth, C., Gilmour, K. C., Veys, P., Gennery, A. R., Slatter, M. A., Chapel, H., Heath, P. T., Steward, C. G., Smith, O., O&#x27;Meara, A., Kerrigan, H., Mahlaoui N., and 36 others. &lt;strong&gt;X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.&lt;/strong&gt; Blood 117: 53-62, 2011. Note: Erratum: Blood 118: 5060 only, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20926771/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20926771&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20926771[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood-2010-06-284935&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20926771">Booth et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=198660+9771704+6894075+1847089+20926771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of X-linked/Autosomal Lymphoproliferative Syndrome</em></strong></p><p>
See XLP2 (<a href="/entry/300635">300635</a>), caused by mutation in the XIAP gene (<a href="/entry/300079">300079</a>), also on Xq25; LPFS1 (<a href="/entry/613011">613011</a>), caused by mutation in the ITK gene (<a href="/entry/186973">186973</a>) on chromosome 5q33; LPFS2 (<a href="/entry/615122">615122</a>), caused by mutation in the CD27 gene (<a href="/entry/186711">186711</a>) on chromosome 12p13; and LPFS3 (<a href="/entry/618261">618261</a>), caused by mutation in the CD70 gene (TNFSF7; <a href="/entry/602840">602840</a>) on chromosome 19p13.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>Purtilo et al. (<a href="#23" class="mim-tip-reference" title="Purtilo, D. T., Cassel, C. K., Yang, J. P. S. &lt;strong&gt;Fatal infectious mononucleosis in familial lymphohistiocytosis. (Letter)&lt;/strong&gt; New Eng. J. Med. 291: 736 only, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4852784/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4852784&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/nejm197410032911415&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4852784">1974</a>, <a href="#22" class="mim-tip-reference" title="Purtilo, D. T., Cassel, C. K., Yang, J. P. S., Harper, R., Stephenson, S. R., Landing, B. H., Vewter, G. F. &lt;strong&gt;X-linked recessive progressive combined variable immunodeficiency (Duncan&#x27;s disease).&lt;/strong&gt; Lancet 305: 935-941, 1975. Note: Originally Volume I.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/48119/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;48119&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(75)92004-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="48119">1975</a>) reported a kindred by the name of Duncan in which 6 males died between the ages of 2 and 19 years from a lymphoproliferative disease. The subtle, progressive combined variable immunodeficiency disease was characterized by benign or malignant proliferation of lymphocytes and histiocytosis, as well as alterations in concentrations of serum immunoglobulins. In at least 3 of 6 boys, infectious mononucleosis occurred during or preceding the terminal events. Fever, pharyngitis, lymphadenopathy, hepatosplenomegaly, atypical lymphocytosis, and a spectrum ranging from agammaglobulinemia to polyclonal hypergammaglobulinemia occurred. At necropsy, the thymus glands and thymic-dependent areas in the lymph nodes and spleen were depleted of lymphocytes. Hematopoietic organs, viscera, and central nervous system were diffusely infiltrated by lymphocytes, plasma cells, and histiocytes, some containing erythrocytes. Two of the 6 males, half sibs, had lymphomas of the ileum and central nervous system. The authors raised the possibility that 'the Epstein-Barr virus or other viruses triggered the fatal proliferation of lymphocytes and that progressive attrition of T-cell function allowed uncontrolled lymphoproliferation.' In addition to the kindred described by Purtilo and his colleagues, the kindred in which 4 young male cousins died of infectious mononucleosis, as reported by <a href="#2" class="mim-tip-reference" title="Bar, R. S., DeLor, C. J., Clausen, K. P., Hurtubise, P., Henle, W., Hewetson, J. F. &lt;strong&gt;Fatal infectious mononucleosis in a family.&lt;/strong&gt; New Eng. J. Med. 290: 363-367, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4358992/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4358992&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM197402142900704&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4358992">Bar et al. (1974)</a>, and the kindred with agammaglobulinemia developing after infectious mononucleosis in 3 maternal male cousins, as reported by <a href="#20" class="mim-tip-reference" title="Provisor, A. J., Iacuone, J. J., Chilcote, R. R., Neiburger, R. G., Crussi, F. G., Baehner, R. L. &lt;strong&gt;Acquired agammaglobulinemia after a life-threatening illness with clinical and laboratory features of infectious mononucleosis in three related male children.&lt;/strong&gt; New Eng. J. Med. 293: 62-65, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/165416/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;165416&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM197507102930202&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="165416">Provisor et al. (1975)</a>, may be examples of Duncan disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=48119+4358992+4852784+165416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Hamilton, J. K., Paquin, L. A., Sullivan, J. L., Maurer, H. S., Cruzi, F. G., Provisor, A. J., Steuber, C. P., Hawkins, E., Yawn, D., Cornet, J., Clausen, K., Finkelstein, G. Z., Landing, B., Grunnet, M., Purtilo, D. T. &lt;strong&gt;X-linked lymphoproliferative syndrome registry report.&lt;/strong&gt; J. Pediat. 96: 669-673, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7188959/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7188959&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(80)80735-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7188959">Hamilton et al. (1980)</a> abbreviated the designation of this disease to XLP (X-linked lymphoproliferative) syndrome. They reported studies of 59 affected males in 7 unrelated kindreds ascertained through an XLP registry. Thirty-four patients died of infectious mononucleosis, 8 had fatal infectious mononucleosis with immunoblastic sarcoma, 9 had depressed immunity following Epstein-Barr virus infection, and 8 developed lymphoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7188959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Purtilo, D. T., Sakamoto, K., Barnabei, V., Seeley, J., Bechtold, T., Rogers, G., Yetz, J., Harada, S., the XLP collaborators. &lt;strong&gt;Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): update on studies of the registry.&lt;/strong&gt; Am. J. Med. 73: 49-56, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6283885/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6283885&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(82)90923-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6283885">Purtilo et al. (1982)</a> reviewed 100 cases of XLP in 25 kindreds, and suggested 4 major interrelated phenotypes: infectious mononucleosis (IM), malignant B-cell lymphoma (ML), aplastic anemia (AA), and hypogammaglobulinemia (HGG). Eighty-one of the patients died; 2 were asymptomatic but showed immunodeficiency to EBV; 75 had IM and, concurrently, 17 of this group had AA; all with AA died within a week. On the other hand, AA did not accompany HGG or ML. In 9, IM appeared to evolve into ML; however, most patients with ML showed no obvious antecedent IM. In 1, IM occurred after recurrent ML. Twenty-six of 35 lymphomas were in the terminal ileum. Heterozygous women (mothers of boys with XLP) showed abnormally elevated titers of antibodies to EBV. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6283885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Sullivan, J. L., Byron, K. S., Brewster, F. E., Purtilo, D. T. &lt;strong&gt;Deficient natural killer cell activity in X-linked lymphoproliferative syndrome.&lt;/strong&gt; Science 210: 543-545, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6158759/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6158759&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.6158759&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6158759">Sullivan et al. (1980)</a> found deficient activity of natural killer (NK) cells from patients with XLP. <a href="#43" class="mim-tip-reference" title="Sullivan, J. L., Byron, K. S., Brewster, F. E., Baker, S. M., Ochs, H. D. &lt;strong&gt;X-linked lymphoproliferative syndrome: natural history of the immunodeficiency.&lt;/strong&gt; J. Clin. Invest. 71: 1765-1778, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6306053/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6306053&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/jci110932&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6306053">Sullivan et al. (1983)</a> studied 2 males with XLP before and during acute fatal Epstein-Barr virus infection. Before EBV infection, both showed normal cellular and humoral immunity. Death in both cases was caused by liver failure: one developed extensive hepatic necrosis; the other developed massive infiltration of the liver with EBV-infected immunoblasts after aggressive immunosuppressive therapy. <a href="#43" class="mim-tip-reference" title="Sullivan, J. L., Byron, K. S., Brewster, F. E., Baker, S. M., Ochs, H. D. &lt;strong&gt;X-linked lymphoproliferative syndrome: natural history of the immunodeficiency.&lt;/strong&gt; J. Clin. Invest. 71: 1765-1778, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6306053/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6306053&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/jci110932&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6306053">Sullivan et al. (1983)</a> proposed that an aberrant immune response triggered by acute EBV infection results in unregulated anomalous killer and natural killer cell activity against EBV infected and uninfected cells. They further suggested that the global cellular immune defects in males with XLP who survive EBV infection represent an epiphenomenon. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6306053+6158759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Purtilo, D. T., Grierson, H. L. &lt;strong&gt;Methods of detection of new families with X-linked lymphoproliferative disease.&lt;/strong&gt; Cancer Genet. Cytogenet. 51: 143-153, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1847089/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1847089&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0165-4608(91)90127-g&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1847089">Purtilo and Grierson (1991)</a> reported that during the previous decade 240 males with XLP within 59 unrelated kindreds had been identified worldwide. One-half of the patients had developed fatal infectious mononucleosis at an average age of about 2.5 years, and death occurred on average only 33 days following onset of illness. About one-third had acquired hypogammaglobulinemia and another one-fourth had developed malignant lymphoma, most of which were of the Burkitt type involving the ileocecal region. Although hypogammaglobulinemia and malignant lymphoma were associated with longer survivals, no patient had been documented as living into the fifth decade of life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1847089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Seemayer, T. A., Gross, T. G., Egeler, R. M., Pirruccello, S. J., Davis, D. J., Kelly, C. M., Okano, M., Lanyi, A., Sumegi, J. &lt;strong&gt;X-linked lymphoproliferative disease: twenty-five years after the discovery.&lt;/strong&gt; Pediat. Res. 38: 471-478, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8559596/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8559596&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1203/00006450-199510000-00001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8559596">Seemayer et al. (1995)</a> reviewed XLP 25 years after Purtilo's first observations in 1969. Purtilo established a registry in 1980 to serve as a worldwide resource for the diagnosis, treatment, and research of this condition. After Purtilo's death in late 1992, the registry and research unit continued to function as a worldwide consultative service. By 1995, some 272 affected members of 80 kindreds had been identified. Approximately 10% of the boys who inherited the mutated XLP gene were immunologically abnormal, even before evidence of EBV exposure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8559596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Coffey, A. J., Brooksbank, R. A., Brandau, O., Oohashi, T., Howell, G. R., Bye, J. M., Cahn, A. P., Durham, J., Heath, P., Wray, P., Pavitt, R., Wilkinson, J., and 31 others. &lt;strong&gt;Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.&lt;/strong&gt; Nature Genet. 20: 129-135, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9771704/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9771704&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/2424&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9771704">Coffey et al. (1998)</a> noted that the average age of disease onset in XLP is 2.5 years, with 100% mortality by the age of 40 years. Following infection with EBV, patients mount a vigorous, uncontrolled polyclonal expansion of T and B cells. The primary cause of death is hepatic necrosis and bone marrow failure. The extensive tissue destruction of the liver and bone marrow appears to stem from the uncontrolled cytotoxic T-cell response. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9771704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Systemic vasculitis is an uncommon manifestation of XLP. <a href="#6" class="mim-tip-reference" title="Dutz, J. P., Benoit, L., Wang, X., Demetrick, D. J., Junker, A., de Sa, D., Tan, R. &lt;strong&gt;Lymphocytic vasculitis in X-linked lymphoproliferative disease.&lt;/strong&gt; Blood 97: 95-100, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11133747/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11133747&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood.v97.1.95&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11133747">Dutz et al. (2001)</a> described a patient who died as a result of chronic systemic vasculitis and fulfilled clinical criteria for the diagnosis of XLP. Sequencing of the SH2D1A gene revealed a novel point mutation affecting the SH2 domain. The patient presented with virus-associated hemophagocytic syndrome, and later chorioretinitis, bronchiectasis, and hypogammaglobulinemia developed. He further developed mononeuritis and fatal respiratory failure. Evidence of widespread small and medium vessel vasculitis was noted at autopsy with involvement of retinal, cerebral, and coronary arteries as well as the segmental vessels of the kidneys, testes, and pancreas. Immunohistochemical analysis showed that the vessel wall infiltrates consisted primarily of CD8+ T cells, implying a cytotoxic T-lymphocyte response to antigen. Epstein-Barr virus DNA was detected by PCR in arterial wall tissue microdissected from infiltrated vessels, suggesting that the CD8+ T cells were targeting EBV antigens within the endothelium. <a href="#6" class="mim-tip-reference" title="Dutz, J. P., Benoit, L., Wang, X., Demetrick, D. J., Junker, A., de Sa, D., Tan, R. &lt;strong&gt;Lymphocytic vasculitis in X-linked lymphoproliferative disease.&lt;/strong&gt; Blood 97: 95-100, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11133747/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11133747&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood.v97.1.95&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11133747">Dutz et al. (2001)</a> proposed that functional inactivation of the SH2D1A gene impairs the immunologic response to EBV, resulting in systemic vasculitis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11133747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#47" class="mim-tip-reference" title="Verhelst, H., Van Coster, R., Bockaert, N., Laureys, G., Latour, S., Fischer, A., Haerynck, F. &lt;strong&gt;Limbic encephalitis as presentation of a SAP deficiency.&lt;/strong&gt; Neurology 69: 218-219, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17620557/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17620557&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000265597.56202.6c&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17620557">Verhelst et al. (2007)</a> reported a boy with SAP deficiency who developed limbic encephalitis. He was diagnosed and treated for cervical B-cell non-Hodgkin lymphoma at age 9 years. At age 15, during hospitalization for pneumonia, blood tests revealed hypogammaglobulinemia for the first time. At age 16, he presented with seizures, decreased alertness, short-term memory loss, and hemiparesis. MRI and cerebral biopsy showed vasculitis with infiltration of T lymphocytes and granulomas. Despite aggressive treatment, he showed further deterioration and died 10 months later. There was absence of SAP protein on immunostaining of the patient's lymphocytes, but no mutation was identified in the SH2D1A gene. There was no family history of a similar disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17620557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Booth, C., Gilmour, K. C., Veys, P., Gennery, A. R., Slatter, M. A., Chapel, H., Heath, P. T., Steward, C. G., Smith, O., O&#x27;Meara, A., Kerrigan, H., Mahlaoui N., and 36 others. &lt;strong&gt;X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.&lt;/strong&gt; Blood 117: 53-62, 2011. Note: Erratum: Blood 118: 5060 only, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20926771/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20926771&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20926771[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1182/blood-2010-06-284935&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20926771">Booth et al. (2011)</a> performed a retrospective analysis of 91 patients with genetically confirmed XLP1 ascertained worldwide, including 43 who had hematopoietic stem cell transplant (HSCT) and 48 without transplant. The most common presenting feature was hemophagocytic lymphohistiocytosis (HLH), which occurred in 39.6% of patients, and the most common overall feature was dysgammaglobulinemia, which occurred in 50% of patients at some point during the illness. Twenty-two patients had malignant lymphoproliferative disease, including 18 with B-cell non-Hodgkin lymphoma. Fifty-one (64.6%) of 79 patients tested were EBV-positive. There was no significant difference in mortality between those with and without documented EBV infection, but those with EBV infection had a higher frequency of HLH. The mortality for patients presenting with HLH was 65.6%, with a median age at presentation of 3 years, 2 months. Overall survival after transplant was 81.4%; however, survival fell to 50% in patients with HLH as a feature of disease. Untransplanted patients had an overall survival of 62.5% with the majority on immunoglobulin replacement therapy, but the outcome for those untransplanted after HLH was extremely poor, at only 18.8%. Overall, the study indicated that hematopoietic stem cell transplant should be undertaken in all XLP1 patients with HLH, because outcome without transplant is extremely poor, whereas the outcome of HSCT for other manifestations of XLP1 is very good. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20926771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="diagnosis" class="mim-anchor"></a>
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDiagnosisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<div id="mimDiagnosisFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#25" class="mim-tip-reference" title="Purtilo, D. T., Grierson, H. L. &lt;strong&gt;Methods of detection of new families with X-linked lymphoproliferative disease.&lt;/strong&gt; Cancer Genet. Cytogenet. 51: 143-153, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1847089/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1847089&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0165-4608(91)90127-g&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1847089">Purtilo and Grierson (1991)</a> concluded that the diagnosis of XLP in affected males and female carriers was 99% accurate based on results of linkage to DXS42 RFLPs (lod = 19.4) and 95% accurate with RFLP probes to DXS37 (lod = 11.8). By linkage analysis, they detected males with the XLP gene before EBV infection occurred. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1847089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using RFLP analysis, <a href="#7" class="mim-tip-reference" title="Grierson, H. L., Skare, J., Church, J., Silberman, T., Davis, J. R., Kobrinsky, N., McGregor, R., Israels, S., McCarty, J., Andrews, L. G., Blecha, T., Erdman, S., Obringer, A., Scharnhorst, D., Purtilo, D. T. &lt;strong&gt;Evaluation of families wherein a single male manifests a phenotype of X-linked lymphoproliferative disease (XLP).&lt;/strong&gt; Am. J. Med. Genet. 47: 458-463, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8256804/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8256804&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320470404&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8256804">Grierson et al. (1993)</a> evaluated 10 families in which a single male had died of infectious mononucleosis. The authors suggested that, in such families, Epstein-Barr virus-seronegative males must be considered at risk for XLP and should be identified pre-EBV infection in order to maximize survival. One family in the study was determined to have XLP; 3 other families in the study had carriers of XLP, and 3 families were determined not to have XLP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8256804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
<a href="#38" class="mim-tip-reference" title="Skare, J., Madan, S., Glaser, J., Purtilo, D., Nitowsky, H., Pulijaal, V., Milunsky, A. &lt;strong&gt;First prenatal diagnosis of X-linked lymphoproliferative disease.&lt;/strong&gt; Am. J. Med. Genet. 44: 79-81, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1355632/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1355632&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440119&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1355632">Skare et al. (1992)</a> made the diagnosis of XLP prenatally by analyzing closely linked RFLP markers of cells obtained at amniocentesis at 15 weeks' gestation. By use of DNA markers applied to chorionic villus sampling (CVS) material, <a href="#18" class="mim-tip-reference" title="Mulley, J. C., Turner, A. M., Gedeon, A. K., Berdoukas, V. A., Huang, T. H. M., Ledbetter, D. H., Grierson, H., Purtilo, D. T. &lt;strong&gt;X-linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male.&lt;/strong&gt; Clin. Genet. 42: 76-79, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1358486/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1358486&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1992.tb03143.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1358486">Mulley et al. (1992)</a> identified with high reliability an unaffected male fetus, brother of an affected male. By HLA-DR typing of the CVS, they also showed that the fetus was DR-identical to the affected sib. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1355632+1358486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalManagement" class="mim-anchor"></a>
<h4 href="#mimClinicalManagementFold" id="mimClinicalManagementToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalManagementToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<div id="mimClinicalManagementFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#49" class="mim-tip-reference" title="Williams, L. L., Rooney, C. M., Conley, M. E., Brenner, M. K., Krance, R. A., Heslop, H. E. &lt;strong&gt;Correction of Duncan&#x27;s syndrome by allogeneic bone marrow transplantation.&lt;/strong&gt; Lancet 342: 587-588, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8102723/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8102723&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(93)91413-g&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8102723">Williams et al. (1993)</a> reported successful bone marrow transplantation in an 11-year-old boy with Duncan syndrome, with restoration of an apparently normal host immune response to EBV. They presented this as evidence that the primary abnormality in this disorder resides in bone marrow-derived cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8102723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#48" class="mim-tip-reference" title="Vowels, M. R., Lam-Po-Tang, R., Berdoukas, V., Ford, D., Thierry, D., Purtilo, D., Gluckman, E. &lt;strong&gt;Correction of X-linked lymphoproliferative disease by transplantation of cord-blood stem cells.&lt;/strong&gt; New Eng. J. Med. 329: 1623-1625, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8232431/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8232431&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199311253292205&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8232431">Vowels et al. (1993)</a> described a boy with this disorder in whom transplantation of cord-blood stem cells from an HLA-identical sib resulted in correction of the genetic defect and the hypogammaglobulinemia. Cord blood collected at birth contains 5 to 10 times more marrow progenitor cells than the peripheral blood of older infants or children, and the volume of blood and nucleated cells that can be collected is substantial. The authors noted that cord blood had successfully been transplanted into patients with aplastic anemia and leukemia, resulting in repopulation of the bone marrow and immune systems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8232431" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Arkwright, P. D., Makin, G., Will, A. M., Ayres, M., Gokhale, D. A., Fergusson, W. D., Taylor, G. M. &lt;strong&gt;X linked lymphoproliferative disease in a United Kingdom family.&lt;/strong&gt; Arch. Dis. Child. 79: 52-55, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9771253/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9771253&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.79.1.52&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9771253">Arkwright et al. (1998)</a> reported a sibship of 4 males born to unrelated parents, 3 of whom had X-linked lymphoproliferative disease. The proband was born at 33 weeks' gestation and developed neonatal varicella zoster infection complicated by tibial osteomyelitis. At 18 months of age, he developed infectious mononucleosis complicated by hepatitis and aplastic anemia. The latter responded well to oral corticosteroids, broad-spectrum antibiotics, and acyclovir. He later developed hypoglobulinemia and required regular intravenous infusions of immunoglobulin. An older brother was healthy until the age of 7, when he developed a fulminant cytomegalovirus infection (hemophagocytic lymphohistiocytosis). This responded to etoposide-based chemotherapy and a successful allogenic bone marrow transplant from his normal sib. At 4 months of age, another brother was shown by RFLP and microsatellite markers flanking the XLP locus to have inherited the high-risk haplotype. Although healthy, he was receiving prophylactic intravenous immunoglobulin infusions. This sibship demonstrated the varied clinical manifestations of X-linked lymphoproliferative disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9771253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Schuster, V., Kreth, H. W. &lt;strong&gt;X-linked lymphoproliferative disease. In: Ochs, H. D.; Smith, C. I. E.; Puck, J. M. (eds.): Primary Immunodeficiency Diseases: A Molecular and Genetic Approach.&lt;/strong&gt; New York: Oxford University Press 1999. Pp. 222-232."None>Schuster and Kreth (1999)</a> stated that the only means available to prevent EBV- and non-EBV-related complications in later life is early transplantation of allogeneic hematopoietic stem cells, i.e., cord blood or bone marrow (<a href="#48" class="mim-tip-reference" title="Vowels, M. R., Lam-Po-Tang, R., Berdoukas, V., Ford, D., Thierry, D., Purtilo, D., Gluckman, E. &lt;strong&gt;Correction of X-linked lymphoproliferative disease by transplantation of cord-blood stem cells.&lt;/strong&gt; New Eng. J. Med. 329: 1623-1625, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8232431/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8232431&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199311253292205&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8232431">Vowels et al., 1993</a>; <a href="#49" class="mim-tip-reference" title="Williams, L. L., Rooney, C. M., Conley, M. E., Brenner, M. K., Krance, R. A., Heslop, H. E. &lt;strong&gt;Correction of Duncan&#x27;s syndrome by allogeneic bone marrow transplantation.&lt;/strong&gt; Lancet 342: 587-588, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8102723/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8102723&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(93)91413-g&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8102723">Williams et al., 1993</a>). The age of the patient at the time of transplantation appeared to be critical. Whereas 4 of 8 XLPD patients who underwent stem cell transplantation before the age of 15 years were alive and well for more than 2 years posttransplantation, all 4 boys older than 15 years of age at the time of transplantation died within 90 days of complications. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8232431+8102723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>Skare et al. (<a href="#39" class="mim-tip-reference" title="Skare, J., Milunsky, A., Byron, K., Sullivan, J. &lt;strong&gt;The mutation causing X-linked lymphoproliferative syndrome lies in Xq26. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 41: A185 only, 1987."None>1987</a>, <a href="#35" class="mim-tip-reference" title="Skare, J. C., Milunsky, A., Byron, K. S., Sullivan, J. L. &lt;strong&gt;Mapping the X-linked lymphoproliferative syndrome.&lt;/strong&gt; Proc. Nat. Acad. Sci. 84: 2015-2018, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2882515/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2882515&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.84.7.2015&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2882515">1987</a>) demonstrated linkage of XLP with marker DXS42, which maps to Xq24-q27 (lod score of 5.26). Haplotype analysis refined the XLP locus distal to DXS42 and proximal to DXS99. <a href="#34" class="mim-tip-reference" title="Skare, J. C., Grierson, H. L., Sullivan, J. L., Nussbaum, R. L., Purtilo, D. T., Sylla, B. S., Lenoir, G. M., Reilly, D. S., White, B. N., Milunsky, A. &lt;strong&gt;Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37.&lt;/strong&gt; Hum. Genet. 82: 354-358, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2567696/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2567696&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00273997&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2567696">Skare et al. (1989)</a> extended the linkage information on the family they reported in 1987 and studied 6 additional families, all of which corroborated the close linkage to DXS42 (1% recombination; lod = 17.5) and DXS37 (maximum lod = 13.3 at theta = 0.0.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2882515+2567696" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Hayoz, D., Lenoir, G. M., Nicole, A., Pugin, P., Regamey, C. &lt;strong&gt;X-linked lymphoproliferative syndrome: identification of a large family in Switzerland.&lt;/strong&gt; Am. J. Med. 84: 529-534, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3348254/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3348254&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(88)90278-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3348254">Hayoz et al. (1988)</a> identified a large, extensively affected Swiss family with XLP, ascertained through a patient with acquired hypogammaglobulinemia associated with a mononucleosis syndrome at the age of 18 years; the patient died at 19. In this family, a new mutation in the F8 gene (<a href="/entry/300841">300841</a>) causing hemophilia A (<a href="/entry/306700">306700</a>) had occurred, resulting in a woman who was a carrier of both genes. She had a son with hemophilia, a daughter who was a carrier of both disorders, and a son who was free of both disorders. The doubly-heterozygous daughter had 1 son with XLPD and 1 son who was doubly affected. The observations suggested that the hemophilia A locus and the XLPD locus are far apart, a conclusion that was supported by other mapping data. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3348254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Harris, A., Lenoir, G. M., Lankester, S. A. &lt;strong&gt;X-linked lymphoproliferative disease: linkage studies using DNA probes.&lt;/strong&gt; Clin. Genet. 33: 162-168, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2896078/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2896078&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1988.tb03432.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2896078">Harris et al. (1988)</a> excluded linkage of XLP to 28 X-linked probes. <a href="#10" class="mim-tip-reference" title="Harris, A., Docherty, Z. &lt;strong&gt;X-linked lymphoproliferative disease: a karyotype analysis.&lt;/strong&gt; Cytogenet. Cell Genet. 47: 92-94, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2833379/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2833379&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000132516&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2833379">Harris and Docherty (1988)</a> found no particular chromosomal abnormalities in this disorder. One of their patients was found to have the Klinefelter syndrome, having inherited 2 copies of his maternal XLPD-carrying X chromosome. <a href="#50" class="mim-tip-reference" title="Wyandt, H. E., Skare, J. C., Grierson, H. L., Purtilo, D. T., Milunsky, A. &lt;strong&gt;Detection of a chromosomal deletion of Xq25 in an affected male with X-linked lymphoproliferative disease. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 45 (suppl.): A108 only, 1989."None>Wyandt et al. (1989)</a> found deletion of part of band Xq25 in a male with this disorder; others found the same deletion in the mother and a sister. <a href="#37" class="mim-tip-reference" title="Skare, J., Grierson, H., Wyandt, H., Sanger, W., Milunsky, J., Purtilo, D., Sullivan, J., Milunsky, A. &lt;strong&gt;Genetics of the X-linked lymphoproliferative syndrome. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 45 (suppl.): A161 only, 1989."None>Skare et al. (1989)</a> reported family linkage studies of the XLP-causing gene with several Xq DNA markers. They also reported 1 male of 14 unrelated affected persons who had a deletion in Xq which was thought to involve about one-half of Xq25. This male retained sequences at all 5 loci that had been found to be closely linked to XLP, but lacked DXS6 which by somatic hybrid mapping had been assigned to Xq26-qter. In a large Swiss family with XLP, <a href="#46" class="mim-tip-reference" title="Sylla, B. S., Wang, Q., Hayoz, D., Lathrop, G. M., Lenoir, G. M. &lt;strong&gt;Multipoint linkage mapping of the Xq25-q26 region in a family affected by the X-linked lymphoproliferative syndrome.&lt;/strong&gt; Clin. Genet. 36: 459-462, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2574086/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2574086&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1989.tb03377.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2574086">Sylla et al. (1989)</a> demonstrated linkage of XLP to marker DXS37, which is located in Xq25-q26. Multipoint linkage analysis showed that the XLP locus is distal to DXS11 but proximal to HPRT (<a href="/entry/308000">308000</a>). <a href="#31" class="mim-tip-reference" title="Sanger, W. G., Grierson, H. L., Skare, J., Wyandt, H., Pirruccello, S., Fordyce, R., Purtilo, D. T. &lt;strong&gt;Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP).&lt;/strong&gt; Cancer Genet. Cytogenet. 47: 163-169, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1972651/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1972651&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0165-4608(90)90026-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1972651">Sanger et al. (1990)</a> demonstrated an interstitial deletion involving a portion of Xq25 in an affected male as well as in 1 sister and their mother. Using blot hybridization, <a href="#40" class="mim-tip-reference" title="Skare, J., Wu, B.-L., Madan, S., Pulijaal, V., Purtilo, D., Haber, D., Nelson, D., Sylla, B., Grierson, H., Nitowsky, H., Glaser, J., Wissink, J., White, B., Holden, J., Housman, D., Lenoir, G., Wyandt, H., Milunsky, A. &lt;strong&gt;Characterization of three overlapping deletions causing X-linked lymphoproliferative disease.&lt;/strong&gt; Genomics 16: 254-255, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8387453/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8387453&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1993.1169&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8387453">Skare et al. (1993)</a> identified 3 XLP males with deletions of Xq25 encompassing marker DXS739. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2833379+1972651+2896078+2574086+8387453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In 9 unrelated patients with X-linked lymphoproliferative syndrome, <a href="#5" class="mim-tip-reference" title="Coffey, A. J., Brooksbank, R. A., Brandau, O., Oohashi, T., Howell, G. R., Bye, J. M., Cahn, A. P., Durham, J., Heath, P., Wray, P., Pavitt, R., Wilkinson, J., and 31 others. &lt;strong&gt;Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.&lt;/strong&gt; Nature Genet. 20: 129-135, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9771704/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9771704&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/2424&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9771704">Coffey et al. (1998)</a> identified mutations in the SH2D1A gene (<a href="/entry/300490#0001">300490.0001</a>-<a href="/entry/300490#0009">300490.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9771704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 brothers with early-onset non-Hodgkin lymphoma, but no clinical or laboratory evidence of EBV infection, <a href="#4" class="mim-tip-reference" title="Brandau, O., Schuster, V., Weiss, M., Hellebrand, H., Fink, F. M., Kreczy, A., Friedrich, W., Strahm, B., Niemeyer, C., Belohradsky, B. H., Meindl, A. &lt;strong&gt;Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).&lt;/strong&gt; Hum. Molec. Genet. 8: 2407-2413, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10556288/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10556288&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/8.13.2407&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10556288">Brandau et al. (1999)</a> identified a deletion of exon 1 of the SH2D1A gene (<a href="/entry/300490#0010">300490.0010</a>). Other SH2D1A mutations were identified in 2 additional unrelated patients without evidence of EBV infection; 1 had non-Hodgkin lymphoma and 1 had signs of dysgammaglobulinemia. Development of dysgammaglobulinemia and lymphoma without evidence of prior EBV infection in 4 patients suggested that EBV is unrelated to these particular phenotypes, in contrast to fulminant or fatal infectious mononucleosis. No SH2D1A mutations were found in 3 families in which clinical features were suggestive of XLP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10556288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#45" class="mim-tip-reference" title="Sumegi, J., Gross, T. G., Seemayer, T. A. &lt;strong&gt;The molecular genetics of X-linked lymphoproliferative (Duncan&#x27;s) disease.&lt;/strong&gt; Cancer J. Sci. Am. 5: 57-62, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10198724/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10198724&lt;/a&gt;]" pmid="10198724">Sumegi et al. (1999)</a> reviewed the molecular basis of Duncan disease. They tabulated 15 mutations in the SH2D1A gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10198724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="heterogeneity" class="mim-anchor"></a>
<h4 href="#mimHeterogeneityFold" id="mimHeterogeneityToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimHeterogeneityToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Heterogeneity</strong>
</span>
</h4>
</div>
<div id="mimHeterogeneityFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#30" class="mim-tip-reference" title="Rigaud, S., Fondaneche, M.-C., Lambert, N., Pasquier, B., Mateo, V., Soulas, P., Galicier, L., Le Deist, F., Rieux-Laucat, F., Revy, P., Fischer, A., de Saint Basile, G., Latour, S. &lt;strong&gt;XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.&lt;/strong&gt; Nature 444: 110-114, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17080092/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17080092&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature05257&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17080092">Rigaud et al. (2006)</a> studied a cohort of 18 families with an inherited disease diagnosed as X-linked lymphoproliferative syndrome. Among them, 15 were found to harbor mutations in the SH2D1A gene. However, in affected individuals from 3 families, <a href="#30" class="mim-tip-reference" title="Rigaud, S., Fondaneche, M.-C., Lambert, N., Pasquier, B., Mateo, V., Soulas, P., Galicier, L., Le Deist, F., Rieux-Laucat, F., Revy, P., Fischer, A., de Saint Basile, G., Latour, S. &lt;strong&gt;XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.&lt;/strong&gt; Nature 444: 110-114, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17080092/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17080092&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature05257&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17080092">Rigaud et al. (2006)</a> failed to detect mutations in the SH2D1A gene or any of its regulatory regions. Unlike SAP-deficient patients with XLP, these patients often had splenomegaly, noticed as their first clinical manifestation of this condition. Further investigations demonstrated that in these 3 families, XLP was caused by insufficiency of XIAP (<a href="/entry/300079">300079</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17080092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="pathogenesis" class="mim-anchor"></a>
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimPathogenesisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
</div>
<div id="mimPathogenesisFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#19" class="mim-tip-reference" title="Nichols, K. E., Hom, J., Gong, S.-Y., Ganguly, A., Ma, C. S., Cannons, J. L., Tangye, S. G., Schwartzberg, P. L., Koretzky, G. A., Stein, P. L. &lt;strong&gt;Regulation of NKT cell development by SAP, the protein defective in XLP.&lt;/strong&gt; Nature Med. 11: 340-345, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15711562/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15711562&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nm1189&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15711562">Nichols et al. (2005)</a> observed that Sh2d1a -/- mice lacked NKT cells in the thymus and peripheral organs. The defect in NKT cell ontogeny was hematopoietic cell-autonomous and could be rescued by reconstitution of Sh2d1a expression within Sh2d1a -/- bone marrow cells. <a href="#19" class="mim-tip-reference" title="Nichols, K. E., Hom, J., Gong, S.-Y., Ganguly, A., Ma, C. S., Cannons, J. L., Tangye, S. G., Schwartzberg, P. L., Koretzky, G. A., Stein, P. L. &lt;strong&gt;Regulation of NKT cell development by SAP, the protein defective in XLP.&lt;/strong&gt; Nature Med. 11: 340-345, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15711562/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15711562&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nm1189&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15711562">Nichols et al. (2005)</a> also studied 17 individuals with XLP and differing SH2D1A genotypes. All 17 lacked NKT cells, and a female XLP carrier showed completely skewed X chromosome inactivation within NKT cells, but not T or B cells. <a href="#19" class="mim-tip-reference" title="Nichols, K. E., Hom, J., Gong, S.-Y., Ganguly, A., Ma, C. S., Cannons, J. L., Tangye, S. G., Schwartzberg, P. L., Koretzky, G. A., Stein, P. L. &lt;strong&gt;Regulation of NKT cell development by SAP, the protein defective in XLP.&lt;/strong&gt; Nature Med. 11: 340-345, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15711562/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15711562&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nm1189&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15711562">Nichols et al. (2005)</a> concluded that SH2D1A is a crucial regulator of NKT cell ontogeny, and that the absence of NKT cells may contribute to the XLP phenotype, including abnormal antiviral and antitumor immunity and hypogammaglobulinemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15711562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Ma, C. S., Hare, N. J., Nichols, K. E., Dupre, L., Andolfi, G., Roncarolo, M.-G., Adelstein, S., Hodgkin, P. D., Tangye, S. G. &lt;strong&gt;Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells.&lt;/strong&gt; J. Clin. Invest. 115: 1049-1059, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15761493/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15761493&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15761493[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI23139&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15761493">Ma et al. (2005)</a> analyzed 14 XLP patients from 9 families and found normal B-cell development but a marked reduction in the number of memory B cells; the few detected were IgM+, revealing deficient isotype switching in vivo. However, XLP B cells underwent proliferation and differentiation in vitro as efficiently as control B cells, indicating that the block in differentiation in vivo is B-cell extrinsic. XLP CD4+ (<a href="/entry/186940">186940</a>) T cells did not efficiently differentiate into IL10+ (<a href="/entry/124092">124092</a>) effector cells or provide optimal B-cell help in vitro; provision of exogenous IL10 or ectopic expression of SH2D1A, which increased IL10 production by T cells, improved the B-cell help. <a href="#16" class="mim-tip-reference" title="Ma, C. S., Hare, N. J., Nichols, K. E., Dupre, L., Andolfi, G., Roncarolo, M.-G., Adelstein, S., Hodgkin, P. D., Tangye, S. G. &lt;strong&gt;Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells.&lt;/strong&gt; J. Clin. Invest. 115: 1049-1059, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15761493/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15761493&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15761493[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI23139&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15761493">Ma et al. (2005)</a> suggested that insufficient IL10 production may contribute to hypogammaglobulinemia in XLP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15761493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using immunohistochemistry and flow cytometric analysis, <a href="#17" class="mim-tip-reference" title="Ma, C. S., Pittaluga, S., Avery, D. T., Hare, N. J., Maric, I., Klion, A. D., Nichols, K. E., Tangye, S. G. &lt;strong&gt;Selective generation of functional somatically mutated IgM+CD27+, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative disease.&lt;/strong&gt; J. Clin. Invest. 116: 322-333, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16424938/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16424938&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16424938[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI25720&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16424938">Ma et al. (2006)</a> found that IgM-positive/CD27 (TNFRSF7; <a href="/entry/186711">186711</a>)-positive B cells from XLP patients were morphologically and functionally similar to those from normal donors. The authors suggested that production of affinity-matured IgM by these cells may protect against pathogens to which a normal immune response is elicited in XLP patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16424938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By studying T-cell receptor (TCR; see <a href="/entry/186740">186740</a>) restimulation of preactivated T cells from EBV-naive XLP patients after prolonged exposure to IL2 (<a href="/entry/147680">147680</a>), <a href="#41" class="mim-tip-reference" title="Snow, A. L., Marsh, R. A., Krummey, S. M., Roehrs, P., Young, L. R., Zhang, K., van Hoff, J., Dhar, D., Nichols, K. E., Filipovich, A. H., Su, H. C., Bleesing, J. J., Lenardo, M. J. &lt;strong&gt;Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency.&lt;/strong&gt; J. Clin. Invest. 119: 2976-2989, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19759517/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19759517&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19759517[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI39518&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19759517">Snow et al. (2009)</a> found that activated T cells from these patients were specifically and substantially less sensitive to restimulation-induced cell death (RICD). Silencing SAP or NTBA (SLAMF6; <a href="/entry/606446">606446</a>) expression recapitulated resistance to RICD in normal T cells, indicating that both molecules are necessary for optimal TCR-induced apoptosis. TCR restimulation triggered increased recruitment of SAP to NTBA, and these proteins functioned to augment TCR-induced signal strength and induction of downstream proapoptotic target genes, including FASL (TNFSF6; <a href="/entry/134638">134638</a>) and BIM (BCL2L11; <a href="/entry/603827">603827</a>). <a href="#41" class="mim-tip-reference" title="Snow, A. L., Marsh, R. A., Krummey, S. M., Roehrs, P., Young, L. R., Zhang, K., van Hoff, J., Dhar, D., Nichols, K. E., Filipovich, A. H., Su, H. C., Bleesing, J. J., Lenardo, M. J. &lt;strong&gt;Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency.&lt;/strong&gt; J. Clin. Invest. 119: 2976-2989, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19759517/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19759517&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19759517[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI39518&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19759517">Snow et al. (2009)</a> proposed that XLP patients are inherently susceptible to antigen-induced lymphoproliferative disease and fulminant infectious mononucleosis due to compromised RICD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19759517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="history" class="mim-anchor"></a>
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimHistoryToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<div id="mimHistoryFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#32" class="mim-tip-reference" title="Schuster, V., Kreth, H. W. &lt;strong&gt;X-linked lymphoproliferative disease. In: Ochs, H. D.; Smith, C. I. E.; Puck, J. M. (eds.): Primary Immunodeficiency Diseases: A Molecular and Genetic Approach.&lt;/strong&gt; New York: Oxford University Press 1999. Pp. 222-232."None>Schuster and Kreth (1999)</a> attributed the first report of a family with XLP to <a href="#8" class="mim-tip-reference" title="Hambleton, G., Cottom, D. G. &lt;strong&gt;Familial lymphoma.&lt;/strong&gt; Proc. Roy. Soc. Med. 62: 1095 only, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5395225/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5395225&lt;/a&gt;]" pmid="5395225">Hambleton and Cottom (1969)</a>, who described a family in which 2 brothers suffered from hypogammaglobulinemia and malignant lymphoma following infectious mononucleosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5395225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>See Also:</strong>
</span>
</h4>
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<a href="#Levine1982" class="mim-tip-reference" title="Levine, P. H., Kamaraju, L. S., Connelly, R. R., Berard, C. W., Dorfman, R. F., Magrath, I., Easton, J. M. &lt;strong&gt;The American Burkitt&#x27;s Lymphoma Registry: eight years&#x27; experience.&lt;/strong&gt; Cancer 49: 1016-1022, 1982.">Levine et al. (1982)</a>; <a href="#Loeffel1985" class="mim-tip-reference" title="Loeffel, S., Chang, C.-H., Heyn, R., Harada, S., Lipscomb, H., Sinangil, F., Volsky, D. J., McClain, K., Ochs, H., Purtilo, D. T. &lt;strong&gt;Necrotizing lymphoid vasculitis in X-linked lymphoproliferative syndrome.&lt;/strong&gt; Arch. Path. Lab. Med. 109: 546-550, 1985.">Loeffel et al. (1985)</a>; <a href="#Lyon1983" class="mim-tip-reference" title="Lyon, M. F., Loutit, J. F. &lt;strong&gt;X-linked factor in acquired immunodeficiency syndrome? (Letter)&lt;/strong&gt; Lancet 321: 768 only, 1983. Note: Originally Volume I.">Lyon and Loutit (1983)</a>; <a href="#Purtilo1978" class="mim-tip-reference" title="Purtilo, D. T., Bhawan, J., Hutt, L. M., De Nicola, L., Szymanski, I., Yang, J. P. S., Boto, W., Naier, R., Thorley-Lawson, D. &lt;strong&gt;Epstein-Barr virus in the X-linked recessive lymphoproliferative syndrome.&lt;/strong&gt; Lancet 311: 798-801, 1978. Note: Originally Volume I.">Purtilo et al. (1978)</a>; <a href="#Purtilo1977" class="mim-tip-reference" title="Purtilo, D. T., Yang, J. P. S., Allegra, S., DeFlorio, D., Hutt, L. M., Soltani, M., Vawter, G. F. &lt;strong&gt;Hematopathology and pathogenesis of the X-linked recessive lymphoproliferative syndrome.&lt;/strong&gt; Am. J. Med. 62: 225-233, 1977.">Purtilo et al. (1977)</a>; <a href="#Purtilo1976" class="mim-tip-reference" title="Purtilo, D. T. &lt;strong&gt;Pathogenesis and phenotypes of an X-linked recessive lymphoproliferative syndrome.&lt;/strong&gt; Lancet 308: 882-885, 1976. Note: Originally Volume II.">Purtilo (1976)</a>; <a href="#Skare1989" class="mim-tip-reference" title="Skare, J., Grierson, H., Wyandt, H., Sanger, W., Milunsky, J., Purtilo, D., Sullivan, J., Milunsky, A. &lt;strong&gt;Genetics of the X-linked lymphoproliferative syndrome. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 45 (suppl.): A161 only, 1989.">Skare
et al. (1989)</a>; <a href="#Steinherz1985" class="mim-tip-reference" title="Steinherz, R., Levy, Y., Litwin, A., Nitzan, M., Friedman, E., Levin, S. &lt;strong&gt;X-linked lymphoproliferative syndrome: a new kindred with variable phenotypic expression.&lt;/strong&gt; Am. J. Dis. Child. 139: 191-193, 1985.">Steinherz et al. (1985)</a>
</span>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Arkwright1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Arkwright, P. D., Makin, G., Will, A. M., Ayres, M., Gokhale, D. A., Fergusson, W. D., Taylor, G. M.
<strong>X linked lymphoproliferative disease in a United Kingdom family.</strong>
Arch. Dis. Child. 79: 52-55, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9771253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9771253</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9771253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/adc.79.1.52" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Bar1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bar, R. S., DeLor, C. J., Clausen, K. P., Hurtubise, P., Henle, W., Hewetson, J. F.
<strong>Fatal infectious mononucleosis in a family.</strong>
New Eng. J. Med. 290: 363-367, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4358992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4358992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4358992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM197402142900704" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Booth2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Booth, C., Gilmour, K. C., Veys, P., Gennery, A. R., Slatter, M. A., Chapel, H., Heath, P. T., Steward, C. G., Smith, O., O'Meara, A., Kerrigan, H., Mahlaoui N., and 36 others.
<strong>X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.</strong>
Blood 117: 53-62, 2011. Note: Erratum: Blood 118: 5060 only, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20926771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20926771</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20926771[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20926771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1182/blood-2010-06-284935" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Brandau1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Brandau, O., Schuster, V., Weiss, M., Hellebrand, H., Fink, F. M., Kreczy, A., Friedrich, W., Strahm, B., Niemeyer, C., Belohradsky, B. H., Meindl, A.
<strong>Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).</strong>
Hum. Molec. Genet. 8: 2407-2413, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10556288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10556288</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10556288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/8.13.2407" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Coffey1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Coffey, A. J., Brooksbank, R. A., Brandau, O., Oohashi, T., Howell, G. R., Bye, J. M., Cahn, A. P., Durham, J., Heath, P., Wray, P., Pavitt, R., Wilkinson, J., and 31 others.
<strong>Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.</strong>
Nature Genet. 20: 129-135, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9771704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9771704</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9771704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/2424" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Dutz2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dutz, J. P., Benoit, L., Wang, X., Demetrick, D. J., Junker, A., de Sa, D., Tan, R.
<strong>Lymphocytic vasculitis in X-linked lymphoproliferative disease.</strong>
Blood 97: 95-100, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11133747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11133747</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11133747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1182/blood.v97.1.95" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Grierson1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Grierson, H. L., Skare, J., Church, J., Silberman, T., Davis, J. R., Kobrinsky, N., McGregor, R., Israels, S., McCarty, J., Andrews, L. G., Blecha, T., Erdman, S., Obringer, A., Scharnhorst, D., Purtilo, D. T.
<strong>Evaluation of families wherein a single male manifests a phenotype of X-linked lymphoproliferative disease (XLP).</strong>
Am. J. Med. Genet. 47: 458-463, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8256804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8256804</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8256804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320470404" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Hambleton1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hambleton, G., Cottom, D. G.
<strong>Familial lymphoma.</strong>
Proc. Roy. Soc. Med. 62: 1095 only, 1969.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5395225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5395225</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5395225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Hamilton1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hamilton, J. K., Paquin, L. A., Sullivan, J. L., Maurer, H. S., Cruzi, F. G., Provisor, A. J., Steuber, C. P., Hawkins, E., Yawn, D., Cornet, J., Clausen, K., Finkelstein, G. Z., Landing, B., Grunnet, M., Purtilo, D. T.
<strong>X-linked lymphoproliferative syndrome registry report.</strong>
J. Pediat. 96: 669-673, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7188959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7188959</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7188959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(80)80735-9" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Harris1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Harris, A., Docherty, Z.
<strong>X-linked lymphoproliferative disease: a karyotype analysis.</strong>
Cytogenet. Cell Genet. 47: 92-94, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2833379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2833379</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2833379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000132516" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Harris1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Harris, A., Lenoir, G. M., Lankester, S. A.
<strong>X-linked lymphoproliferative disease: linkage studies using DNA probes.</strong>
Clin. Genet. 33: 162-168, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2896078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2896078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2896078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb03432.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Hayoz1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hayoz, D., Lenoir, G. M., Nicole, A., Pugin, P., Regamey, C.
<strong>X-linked lymphoproliferative syndrome: identification of a large family in Switzerland.</strong>
Am. J. Med. 84: 529-534, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3348254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3348254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3348254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9343(88)90278-1" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Levine1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Levine, P. H., Kamaraju, L. S., Connelly, R. R., Berard, C. W., Dorfman, R. F., Magrath, I., Easton, J. M.
<strong>The American Burkitt's Lymphoma Registry: eight years' experience.</strong>
Cancer 49: 1016-1022, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7059918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7059918</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7059918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/1097-0142(19820301)49:5&lt;1016::aid-cncr2820490527&gt;3.0.co;2-h" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Loeffel1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Loeffel, S., Chang, C.-H., Heyn, R., Harada, S., Lipscomb, H., Sinangil, F., Volsky, D. J., McClain, K., Ochs, H., Purtilo, D. T.
<strong>Necrotizing lymphoid vasculitis in X-linked lymphoproliferative syndrome.</strong>
Arch. Path. Lab. Med. 109: 546-550, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2986573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2986573</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2986573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Lyon1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lyon, M. F., Loutit, J. F.
<strong>X-linked factor in acquired immunodeficiency syndrome? (Letter)</strong>
Lancet 321: 768 only, 1983. Note: Originally Volume I.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6132113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6132113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6132113" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0140-6736(83)92059-7" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Ma2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ma, C. S., Hare, N. J., Nichols, K. E., Dupre, L., Andolfi, G., Roncarolo, M.-G., Adelstein, S., Hodgkin, P. D., Tangye, S. G.
<strong>Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells.</strong>
J. Clin. Invest. 115: 1049-1059, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15761493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15761493</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15761493[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15761493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI23139" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Ma2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ma, C. S., Pittaluga, S., Avery, D. T., Hare, N. J., Maric, I., Klion, A. D., Nichols, K. E., Tangye, S. G.
<strong>Selective generation of functional somatically mutated IgM+CD27+, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative disease.</strong>
J. Clin. Invest. 116: 322-333, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16424938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16424938</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16424938[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16424938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI25720" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Mulley1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mulley, J. C., Turner, A. M., Gedeon, A. K., Berdoukas, V. A., Huang, T. H. M., Ledbetter, D. H., Grierson, H., Purtilo, D. T.
<strong>X-linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male.</strong>
Clin. Genet. 42: 76-79, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1358486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1358486</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1358486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03143.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Nichols2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nichols, K. E., Hom, J., Gong, S.-Y., Ganguly, A., Ma, C. S., Cannons, J. L., Tangye, S. G., Schwartzberg, P. L., Koretzky, G. A., Stein, P. L.
<strong>Regulation of NKT cell development by SAP, the protein defective in XLP.</strong>
Nature Med. 11: 340-345, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15711562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15711562</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15711562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/nm1189" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Provisor1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Provisor, A. J., Iacuone, J. J., Chilcote, R. R., Neiburger, R. G., Crussi, F. G., Baehner, R. L.
<strong>Acquired agammaglobulinemia after a life-threatening illness with clinical and laboratory features of infectious mononucleosis in three related male children.</strong>
New Eng. J. Med. 293: 62-65, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/165416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">165416</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=165416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM197507102930202" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Purtilo1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Purtilo, D. T., Bhawan, J., Hutt, L. M., De Nicola, L., Szymanski, I., Yang, J. P. S., Boto, W., Naier, R., Thorley-Lawson, D.
<strong>Epstein-Barr virus in the X-linked recessive lymphoproliferative syndrome.</strong>
Lancet 311: 798-801, 1978. Note: Originally Volume I.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/85816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">85816</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=85816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0140-6736(78)92999-9" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Purtilo1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Purtilo, D. T., Cassel, C. K., Yang, J. P. S., Harper, R., Stephenson, S. R., Landing, B. H., Vewter, G. F.
<strong>X-linked recessive progressive combined variable immunodeficiency (Duncan's disease).</strong>
Lancet 305: 935-941, 1975. Note: Originally Volume I.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/48119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">48119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=48119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0140-6736(75)92004-8" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Purtilo1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Purtilo, D. T., Cassel, C. K., Yang, J. P. S.
<strong>Fatal infectious mononucleosis in familial lymphohistiocytosis. (Letter)</strong>
New Eng. J. Med. 291: 736 only, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4852784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4852784</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4852784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/nejm197410032911415" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Purtilo1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Purtilo, D. T., DeFlorio, D., Jr., Hutt, L. M., Bhawan, J., Yang, J. P. S., Otto, R. L., Edwards, W.
<strong>Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome.</strong>
New Eng. J. Med. 297: 1077-1081, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/198660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">198660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=198660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM197711172972001" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Purtilo1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Purtilo, D. T., Grierson, H. L.
<strong>Methods of detection of new families with X-linked lymphoproliferative disease.</strong>
Cancer Genet. Cytogenet. 51: 143-153, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1847089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1847089</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1847089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0165-4608(91)90127-g" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Purtilo1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Purtilo, D. T., Sakamoto, K., Barnabei, V., Seeley, J., Bechtold, T., Rogers, G., Yetz, J., Harada, S., the XLP collaborators.
<strong>Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): update on studies of the registry.</strong>
Am. J. Med. 73: 49-56, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6283885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6283885</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6283885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9343(82)90923-8" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Purtilo1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Purtilo, D. T., Yang, J. P. S., Allegra, S., DeFlorio, D., Hutt, L. M., Soltani, M., Vawter, G. F.
<strong>Hematopathology and pathogenesis of the X-linked recessive lymphoproliferative syndrome.</strong>
Am. J. Med. 62: 225-233, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/835602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">835602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=835602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9343(77)90318-7" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="Purtilo1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Purtilo, D. T.
<strong>Pathogenesis and phenotypes of an X-linked recessive lymphoproliferative syndrome.</strong>
Lancet 308: 882-885, 1976. Note: Originally Volume II.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/62116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">62116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=62116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0140-6736(76)90542-0" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="29" class="mim-anchor"></a>
<a id="Purtilo1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Purtilo, D. T.
<strong>X-linked lymphoproliferative syndrome: an immunodeficiency disorder with acquired agammaglobulinemia, fatal infectious mononucleosis, or malignant lymphoma.</strong>
Arch. Path. Lab. Med. 105: 119-121, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6894075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6894075</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6894075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="30" class="mim-anchor"></a>
<a id="Rigaud2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rigaud, S., Fondaneche, M.-C., Lambert, N., Pasquier, B., Mateo, V., Soulas, P., Galicier, L., Le Deist, F., Rieux-Laucat, F., Revy, P., Fischer, A., de Saint Basile, G., Latour, S.
<strong>XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.</strong>
Nature 444: 110-114, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17080092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17080092</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17080092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/nature05257" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="31" class="mim-anchor"></a>
<a id="Sanger1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sanger, W. G., Grierson, H. L., Skare, J., Wyandt, H., Pirruccello, S., Fordyce, R., Purtilo, D. T.
<strong>Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP).</strong>
Cancer Genet. Cytogenet. 47: 163-169, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1972651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1972651</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1972651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0165-4608(90)90026-7" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="32" class="mim-anchor"></a>
<a id="Schuster1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schuster, V., Kreth, H. W.
<strong>X-linked lymphoproliferative disease. In: Ochs, H. D.; Smith, C. I. E.; Puck, J. M. (eds.): Primary Immunodeficiency Diseases: A Molecular and Genetic Approach.</strong>
New York: Oxford University Press 1999. Pp. 222-232.
</p>
</div>
</li>
<li>
<a id="33" class="mim-anchor"></a>
<a id="Seemayer1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Seemayer, T. A., Gross, T. G., Egeler, R. M., Pirruccello, S. J., Davis, D. J., Kelly, C. M., Okano, M., Lanyi, A., Sumegi, J.
<strong>X-linked lymphoproliferative disease: twenty-five years after the discovery.</strong>
Pediat. Res. 38: 471-478, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8559596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8559596</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8559596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1203/00006450-199510000-00001" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="34" class="mim-anchor"></a>
<a id="Skare1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Skare, J. C., Grierson, H. L., Sullivan, J. L., Nussbaum, R. L., Purtilo, D. T., Sylla, B. S., Lenoir, G. M., Reilly, D. S., White, B. N., Milunsky, A.
<strong>Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37.</strong>
Hum. Genet. 82: 354-358, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2567696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2567696</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2567696" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00273997" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="35" class="mim-anchor"></a>
<a id="Skare1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Skare, J. C., Milunsky, A., Byron, K. S., Sullivan, J. L.
<strong>Mapping the X-linked lymphoproliferative syndrome.</strong>
Proc. Nat. Acad. Sci. 84: 2015-2018, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2882515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2882515</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2882515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.84.7.2015" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="36" class="mim-anchor"></a>
<a id="Skare1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Skare, J. C., Sullivan, J. L., Milunsky, A.
<strong>Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq.</strong>
Hum. Genet. 82: 349-353, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2567695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2567695</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2567695" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00273996" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="37" class="mim-anchor"></a>
<a id="Skare1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Skare, J., Grierson, H., Wyandt, H., Sanger, W., Milunsky, J., Purtilo, D., Sullivan, J., Milunsky, A.
<strong>Genetics of the X-linked lymphoproliferative syndrome. (Abstract)</strong>
Am. J. Hum. Genet. 45 (suppl.): A161 only, 1989.
</p>
</div>
</li>
<li>
<a id="38" class="mim-anchor"></a>
<a id="Skare1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Skare, J., Madan, S., Glaser, J., Purtilo, D., Nitowsky, H., Pulijaal, V., Milunsky, A.
<strong>First prenatal diagnosis of X-linked lymphoproliferative disease.</strong>
Am. J. Med. Genet. 44: 79-81, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1355632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1355632</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1355632" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320440119" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="39" class="mim-anchor"></a>
<a id="Skare1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Skare, J., Milunsky, A., Byron, K., Sullivan, J.
<strong>The mutation causing X-linked lymphoproliferative syndrome lies in Xq26. (Abstract)</strong>
Am. J. Hum. Genet. 41: A185 only, 1987.
</p>
</div>
</li>
<li>
<a id="40" class="mim-anchor"></a>
<a id="Skare1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Skare, J., Wu, B.-L., Madan, S., Pulijaal, V., Purtilo, D., Haber, D., Nelson, D., Sylla, B., Grierson, H., Nitowsky, H., Glaser, J., Wissink, J., White, B., Holden, J., Housman, D., Lenoir, G., Wyandt, H., Milunsky, A.
<strong>Characterization of three overlapping deletions causing X-linked lymphoproliferative disease.</strong>
Genomics 16: 254-255, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8387453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8387453</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8387453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.1993.1169" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="41" class="mim-anchor"></a>
<a id="Snow2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Snow, A. L., Marsh, R. A., Krummey, S. M., Roehrs, P., Young, L. R., Zhang, K., van Hoff, J., Dhar, D., Nichols, K. E., Filipovich, A. H., Su, H. C., Bleesing, J. J., Lenardo, M. J.
<strong>Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency.</strong>
J. Clin. Invest. 119: 2976-2989, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19759517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19759517</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19759517[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19759517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI39518" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="42" class="mim-anchor"></a>
<a id="Steinherz1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Steinherz, R., Levy, Y., Litwin, A., Nitzan, M., Friedman, E., Levin, S.
<strong>X-linked lymphoproliferative syndrome: a new kindred with variable phenotypic expression.</strong>
Am. J. Dis. Child. 139: 191-193, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3883747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3883747</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3883747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1985.02140040093036" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="43" class="mim-anchor"></a>
<a id="Sullivan1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sullivan, J. L., Byron, K. S., Brewster, F. E., Baker, S. M., Ochs, H. D.
<strong>X-linked lymphoproliferative syndrome: natural history of the immunodeficiency.</strong>
J. Clin. Invest. 71: 1765-1778, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6306053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6306053</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6306053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/jci110932" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="44" class="mim-anchor"></a>
<a id="Sullivan1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sullivan, J. L., Byron, K. S., Brewster, F. E., Purtilo, D. T.
<strong>Deficient natural killer cell activity in X-linked lymphoproliferative syndrome.</strong>
Science 210: 543-545, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6158759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6158759</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6158759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.6158759" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="45" class="mim-anchor"></a>
<a id="Sumegi1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sumegi, J., Gross, T. G., Seemayer, T. A.
<strong>The molecular genetics of X-linked lymphoproliferative (Duncan's) disease.</strong>
Cancer J. Sci. Am. 5: 57-62, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10198724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10198724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10198724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="46" class="mim-anchor"></a>
<a id="Sylla1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sylla, B. S., Wang, Q., Hayoz, D., Lathrop, G. M., Lenoir, G. M.
<strong>Multipoint linkage mapping of the Xq25-q26 region in a family affected by the X-linked lymphoproliferative syndrome.</strong>
Clin. Genet. 36: 459-462, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2574086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2574086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2574086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1989.tb03377.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="47" class="mim-anchor"></a>
<a id="Verhelst2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Verhelst, H., Van Coster, R., Bockaert, N., Laureys, G., Latour, S., Fischer, A., Haerynck, F.
<strong>Limbic encephalitis as presentation of a SAP deficiency.</strong>
Neurology 69: 218-219, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17620557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17620557</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17620557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000265597.56202.6c" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="48" class="mim-anchor"></a>
<a id="Vowels1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vowels, M. R., Lam-Po-Tang, R., Berdoukas, V., Ford, D., Thierry, D., Purtilo, D., Gluckman, E.
<strong>Correction of X-linked lymphoproliferative disease by transplantation of cord-blood stem cells.</strong>
New Eng. J. Med. 329: 1623-1625, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8232431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8232431</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8232431" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM199311253292205" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="49" class="mim-anchor"></a>
<a id="Williams1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Williams, L. L., Rooney, C. M., Conley, M. E., Brenner, M. K., Krance, R. A., Heslop, H. E.
<strong>Correction of Duncan's syndrome by allogeneic bone marrow transplantation.</strong>
Lancet 342: 587-588, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8102723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8102723</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8102723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0140-6736(93)91413-g" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="50" class="mim-anchor"></a>
<a id="Wyandt1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wyandt, H. E., Skare, J. C., Grierson, H. L., Purtilo, D. T., Milunsky, A.
<strong>Detection of a chromosomal deletion of Xq25 in an affected male with X-linked lymphoproliferative disease. (Abstract)</strong>
Am. J. Hum. Genet. 45 (suppl.): A108 only, 1989.
</p>
</div>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="contributors" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="mim-text-font">
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 7/20/2011
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseContributors">
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Paul J. Converse - updated : 8/30/2010<br>Cassandra L. Kniffin - updated : 11/30/2007<br>Ada Hamosh - updated : 1/10/2007<br>Paul J. Converse - updated : 9/7/2006<br>Marla J. F. O'Neill - updated : 7/8/2005<br>Marla J. F. O'Neill - updated : 3/29/2005<br>Cassandra L. Kniffin - reorganized : 5/26/2004<br>Marla J. F. O'Neill - updated : 4/5/2004<br>Paul J. Converse - updated : 9/10/2003<br>Victor A. McKusick - updated : 8/29/2003<br>Paul J. Converse - updated : 1/15/2003<br>Victor A. McKusick - updated : 11/9/2001<br>Victor A. McKusick - updated : 9/12/2001<br>Victor A. McKusick - updated : 8/1/2001<br>Paul J. Converse - updated : 7/17/2001<br>Victor A. McKusick - updated : 4/3/2001<br>Paul J. Converse - updated : 1/23/2001<br>Victor A. McKusick - updated : 1/5/2001<br>Victor A. McKusick - updated : 11/14/2000<br>Victor A. McKusick - updated : 8/16/2000<br>Victor A. McKusick - updated : 6/1/2000<br>Victor A. McKusick - updated : 12/6/1999<br>Stylianos E. Antonarakis - updated : 11/19/1999<br>Victor A. McKusick - updated : 9/23/1999<br>Paul Brennan - updated : 2/15/1999<br>Victor A. McKusick - updated : 9/29/1998<br>Victor A. McKusick - updated : 9/24/1998
</span>
</div>
</div>
</div>
<div>
<a id="creationDate" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 6/4/1986
</span>
</div>
</div>
</div>
<div>
<a id="editHistory" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
carol : 05/03/2022
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseEditHistory">
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
alopez : 01/09/2019<br>ckniffin : 12/20/2018<br>carol : 06/27/2017<br>carol : 03/20/2013<br>ckniffin : 3/19/2013<br>terry : 8/22/2012<br>wwang : 7/27/2011<br>ckniffin : 7/20/2011<br>carol : 4/7/2011<br>mgross : 10/4/2010<br>terry : 8/30/2010<br>terry : 3/31/2009<br>mgross : 2/5/2008<br>wwang : 12/7/2007<br>ckniffin : 11/30/2007<br>mgross : 11/5/2007<br>terry : 11/2/2007<br>alopez : 1/16/2007<br>terry : 1/10/2007<br>mgross : 9/7/2006<br>wwang : 7/20/2005<br>wwang : 7/14/2005<br>terry : 7/8/2005<br>wwang : 3/30/2005<br>wwang : 3/29/2005<br>terry : 6/3/2004<br>carol : 5/26/2004<br>ckniffin : 4/14/2004<br>carol : 4/5/2004<br>alopez : 3/17/2004<br>mgross : 9/10/2003<br>mgross : 9/10/2003<br>tkritzer : 9/5/2003<br>terry : 8/29/2003<br>mgross : 1/15/2003<br>carol : 11/28/2001<br>mcapotos : 11/27/2001<br>terry : 11/9/2001<br>mcapotos : 9/18/2001<br>mcapotos : 9/12/2001<br>mcapotos : 8/16/2001<br>mcapotos : 8/10/2001<br>mcapotos : 8/9/2001<br>mcapotos : 8/7/2001<br>terry : 8/1/2001<br>mgross : 7/17/2001<br>cwells : 4/9/2001<br>cwells : 4/4/2001<br>mcapotos : 4/3/2001<br>mcapotos : 4/3/2001<br>mcapotos : 2/13/2001<br>mgross : 1/23/2001<br>mcapotos : 1/17/2001<br>mcapotos : 1/11/2001<br>terry : 1/5/2001<br>carol : 12/7/2000<br>terry : 11/14/2000<br>terry : 11/14/2000<br>carol : 10/20/2000<br>carol : 8/21/2000<br>terry : 8/16/2000<br>mcapotos : 6/15/2000<br>mcapotos : 6/14/2000<br>terry : 6/1/2000<br>mgross : 4/13/2000<br>mgross : 12/13/1999<br>mgross : 12/10/1999<br>mgross : 12/10/1999<br>terry : 12/6/1999<br>mgross : 11/19/1999<br>carol : 10/7/1999<br>mgross : 10/7/1999<br>terry : 9/23/1999<br>alopez : 2/15/1999<br>carol : 2/5/1999<br>carol : 11/17/1998<br>terry : 11/10/1998<br>dkim : 10/13/1998<br>alopez : 9/29/1998<br>terry : 9/29/1998<br>alopez : 9/24/1998<br>alopez : 9/24/1998<br>alopez : 9/24/1998<br>alopez : 9/24/1998<br>joanna : 9/24/1998<br>dkim : 7/21/1998<br>alopez : 7/29/1997<br>alopez : 7/8/1997<br>mark : 11/10/1995<br>terry : 11/9/1995<br>mimadm : 5/4/1994<br>warfield : 3/14/1994<br>carol : 11/29/1993<br>carol : 11/3/1993
</span>
</div>
</div>
</div>
</div>
</div>
</div>
<div class="container visible-print-block">
<div class="row">
<div class="col-md-8 col-md-offset-1">
<div>
<div>
<h3>
<span class="mim-font">
<strong>#</strong> 308240
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<div >
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
XLP<br />
LYMPHOPROLIFERATIVE DISEASE, X-LINKED; XLPD<br />
LYP<br />
DUNCAN DISEASE<br />
EPSTEIN-BARR VIRUS INFECTION, FAMILIAL FATAL<br />
EBV INFECTION, SEVERE, SUSCEPTIBILITY TO; EBVS<br />
INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO<br />
IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE<br />
IMMUNODEFICIENCY 5; IMD5<br />
PURTILO SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 1162828001; &nbsp;
<strong>ORPHA:</strong> 2442, 538931; &nbsp;
<strong>DO:</strong> 0060705; &nbsp;
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
Xq25
</span>
</td>
<td>
<span class="mim-font">
Lymphoproliferative syndrome, X-linked, 1
</span>
</td>
<td>
<span class="mim-font">
308240
</span>
</td>
<td>
<span class="mim-font">
X-linked recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
SH2D1A
</span>
</td>
<td>
<span class="mim-font">
300490
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because X-linked lymphoproliferative syndrome-1 (XLP1) is caused by mutation in the SH2D1A gene (300490), encoding SLAM-associated protein (SAP), on chromosome Xq25.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>X-linked lymphoproliferative syndrome, or Duncan disease, is a primary immunodeficiency characterized by severe immune dysregulation often after viral infection, typically with Epstein-Barr virus (EBV). It is a complex phenotype manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis (HLH), and/or malignant lymphoma. Other features may include aplastic anemia, red cell aplasia, and lymphomatoid granulomatosis (Purtilo et al., 1977; Purtilo, 1981; Purtilo and Grierson, 1991; Coffey et al., 1998; Booth et al., 2011). </p><p><strong><em>Genetic Heterogeneity of X-linked/Autosomal Lymphoproliferative Syndrome</em></strong></p><p>
See XLP2 (300635), caused by mutation in the XIAP gene (300079), also on Xq25; LPFS1 (613011), caused by mutation in the ITK gene (186973) on chromosome 5q33; LPFS2 (615122), caused by mutation in the CD27 gene (186711) on chromosome 12p13; and LPFS3 (618261), caused by mutation in the CD70 gene (TNFSF7; 602840) on chromosome 19p13.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Purtilo et al. (1974, 1975) reported a kindred by the name of Duncan in which 6 males died between the ages of 2 and 19 years from a lymphoproliferative disease. The subtle, progressive combined variable immunodeficiency disease was characterized by benign or malignant proliferation of lymphocytes and histiocytosis, as well as alterations in concentrations of serum immunoglobulins. In at least 3 of 6 boys, infectious mononucleosis occurred during or preceding the terminal events. Fever, pharyngitis, lymphadenopathy, hepatosplenomegaly, atypical lymphocytosis, and a spectrum ranging from agammaglobulinemia to polyclonal hypergammaglobulinemia occurred. At necropsy, the thymus glands and thymic-dependent areas in the lymph nodes and spleen were depleted of lymphocytes. Hematopoietic organs, viscera, and central nervous system were diffusely infiltrated by lymphocytes, plasma cells, and histiocytes, some containing erythrocytes. Two of the 6 males, half sibs, had lymphomas of the ileum and central nervous system. The authors raised the possibility that 'the Epstein-Barr virus or other viruses triggered the fatal proliferation of lymphocytes and that progressive attrition of T-cell function allowed uncontrolled lymphoproliferation.' In addition to the kindred described by Purtilo and his colleagues, the kindred in which 4 young male cousins died of infectious mononucleosis, as reported by Bar et al. (1974), and the kindred with agammaglobulinemia developing after infectious mononucleosis in 3 maternal male cousins, as reported by Provisor et al. (1975), may be examples of Duncan disease. </p><p>Hamilton et al. (1980) abbreviated the designation of this disease to XLP (X-linked lymphoproliferative) syndrome. They reported studies of 59 affected males in 7 unrelated kindreds ascertained through an XLP registry. Thirty-four patients died of infectious mononucleosis, 8 had fatal infectious mononucleosis with immunoblastic sarcoma, 9 had depressed immunity following Epstein-Barr virus infection, and 8 developed lymphoma. </p><p>Purtilo et al. (1982) reviewed 100 cases of XLP in 25 kindreds, and suggested 4 major interrelated phenotypes: infectious mononucleosis (IM), malignant B-cell lymphoma (ML), aplastic anemia (AA), and hypogammaglobulinemia (HGG). Eighty-one of the patients died; 2 were asymptomatic but showed immunodeficiency to EBV; 75 had IM and, concurrently, 17 of this group had AA; all with AA died within a week. On the other hand, AA did not accompany HGG or ML. In 9, IM appeared to evolve into ML; however, most patients with ML showed no obvious antecedent IM. In 1, IM occurred after recurrent ML. Twenty-six of 35 lymphomas were in the terminal ileum. Heterozygous women (mothers of boys with XLP) showed abnormally elevated titers of antibodies to EBV. </p><p>Sullivan et al. (1980) found deficient activity of natural killer (NK) cells from patients with XLP. Sullivan et al. (1983) studied 2 males with XLP before and during acute fatal Epstein-Barr virus infection. Before EBV infection, both showed normal cellular and humoral immunity. Death in both cases was caused by liver failure: one developed extensive hepatic necrosis; the other developed massive infiltration of the liver with EBV-infected immunoblasts after aggressive immunosuppressive therapy. Sullivan et al. (1983) proposed that an aberrant immune response triggered by acute EBV infection results in unregulated anomalous killer and natural killer cell activity against EBV infected and uninfected cells. They further suggested that the global cellular immune defects in males with XLP who survive EBV infection represent an epiphenomenon. </p><p>Purtilo and Grierson (1991) reported that during the previous decade 240 males with XLP within 59 unrelated kindreds had been identified worldwide. One-half of the patients had developed fatal infectious mononucleosis at an average age of about 2.5 years, and death occurred on average only 33 days following onset of illness. About one-third had acquired hypogammaglobulinemia and another one-fourth had developed malignant lymphoma, most of which were of the Burkitt type involving the ileocecal region. Although hypogammaglobulinemia and malignant lymphoma were associated with longer survivals, no patient had been documented as living into the fifth decade of life. </p><p>Seemayer et al. (1995) reviewed XLP 25 years after Purtilo's first observations in 1969. Purtilo established a registry in 1980 to serve as a worldwide resource for the diagnosis, treatment, and research of this condition. After Purtilo's death in late 1992, the registry and research unit continued to function as a worldwide consultative service. By 1995, some 272 affected members of 80 kindreds had been identified. Approximately 10% of the boys who inherited the mutated XLP gene were immunologically abnormal, even before evidence of EBV exposure. </p><p>Coffey et al. (1998) noted that the average age of disease onset in XLP is 2.5 years, with 100% mortality by the age of 40 years. Following infection with EBV, patients mount a vigorous, uncontrolled polyclonal expansion of T and B cells. The primary cause of death is hepatic necrosis and bone marrow failure. The extensive tissue destruction of the liver and bone marrow appears to stem from the uncontrolled cytotoxic T-cell response. </p><p>Systemic vasculitis is an uncommon manifestation of XLP. Dutz et al. (2001) described a patient who died as a result of chronic systemic vasculitis and fulfilled clinical criteria for the diagnosis of XLP. Sequencing of the SH2D1A gene revealed a novel point mutation affecting the SH2 domain. The patient presented with virus-associated hemophagocytic syndrome, and later chorioretinitis, bronchiectasis, and hypogammaglobulinemia developed. He further developed mononeuritis and fatal respiratory failure. Evidence of widespread small and medium vessel vasculitis was noted at autopsy with involvement of retinal, cerebral, and coronary arteries as well as the segmental vessels of the kidneys, testes, and pancreas. Immunohistochemical analysis showed that the vessel wall infiltrates consisted primarily of CD8+ T cells, implying a cytotoxic T-lymphocyte response to antigen. Epstein-Barr virus DNA was detected by PCR in arterial wall tissue microdissected from infiltrated vessels, suggesting that the CD8+ T cells were targeting EBV antigens within the endothelium. Dutz et al. (2001) proposed that functional inactivation of the SH2D1A gene impairs the immunologic response to EBV, resulting in systemic vasculitis. </p><p>Verhelst et al. (2007) reported a boy with SAP deficiency who developed limbic encephalitis. He was diagnosed and treated for cervical B-cell non-Hodgkin lymphoma at age 9 years. At age 15, during hospitalization for pneumonia, blood tests revealed hypogammaglobulinemia for the first time. At age 16, he presented with seizures, decreased alertness, short-term memory loss, and hemiparesis. MRI and cerebral biopsy showed vasculitis with infiltration of T lymphocytes and granulomas. Despite aggressive treatment, he showed further deterioration and died 10 months later. There was absence of SAP protein on immunostaining of the patient's lymphocytes, but no mutation was identified in the SH2D1A gene. There was no family history of a similar disorder. </p><p>Booth et al. (2011) performed a retrospective analysis of 91 patients with genetically confirmed XLP1 ascertained worldwide, including 43 who had hematopoietic stem cell transplant (HSCT) and 48 without transplant. The most common presenting feature was hemophagocytic lymphohistiocytosis (HLH), which occurred in 39.6% of patients, and the most common overall feature was dysgammaglobulinemia, which occurred in 50% of patients at some point during the illness. Twenty-two patients had malignant lymphoproliferative disease, including 18 with B-cell non-Hodgkin lymphoma. Fifty-one (64.6%) of 79 patients tested were EBV-positive. There was no significant difference in mortality between those with and without documented EBV infection, but those with EBV infection had a higher frequency of HLH. The mortality for patients presenting with HLH was 65.6%, with a median age at presentation of 3 years, 2 months. Overall survival after transplant was 81.4%; however, survival fell to 50% in patients with HLH as a feature of disease. Untransplanted patients had an overall survival of 62.5% with the majority on immunoglobulin replacement therapy, but the outcome for those untransplanted after HLH was extremely poor, at only 18.8%. Overall, the study indicated that hematopoietic stem cell transplant should be undertaken in all XLP1 patients with HLH, because outcome without transplant is extremely poor, whereas the outcome of HSCT for other manifestations of XLP1 is very good. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Purtilo and Grierson (1991) concluded that the diagnosis of XLP in affected males and female carriers was 99% accurate based on results of linkage to DXS42 RFLPs (lod = 19.4) and 95% accurate with RFLP probes to DXS37 (lod = 11.8). By linkage analysis, they detected males with the XLP gene before EBV infection occurred. </p><p>Using RFLP analysis, Grierson et al. (1993) evaluated 10 families in which a single male had died of infectious mononucleosis. The authors suggested that, in such families, Epstein-Barr virus-seronegative males must be considered at risk for XLP and should be identified pre-EBV infection in order to maximize survival. One family in the study was determined to have XLP; 3 other families in the study had carriers of XLP, and 3 families were determined not to have XLP. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
Skare et al. (1992) made the diagnosis of XLP prenatally by analyzing closely linked RFLP markers of cells obtained at amniocentesis at 15 weeks' gestation. By use of DNA markers applied to chorionic villus sampling (CVS) material, Mulley et al. (1992) identified with high reliability an unaffected male fetus, brother of an affected male. By HLA-DR typing of the CVS, they also showed that the fetus was DR-identical to the affected sib. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Williams et al. (1993) reported successful bone marrow transplantation in an 11-year-old boy with Duncan syndrome, with restoration of an apparently normal host immune response to EBV. They presented this as evidence that the primary abnormality in this disorder resides in bone marrow-derived cells. </p><p>Vowels et al. (1993) described a boy with this disorder in whom transplantation of cord-blood stem cells from an HLA-identical sib resulted in correction of the genetic defect and the hypogammaglobulinemia. Cord blood collected at birth contains 5 to 10 times more marrow progenitor cells than the peripheral blood of older infants or children, and the volume of blood and nucleated cells that can be collected is substantial. The authors noted that cord blood had successfully been transplanted into patients with aplastic anemia and leukemia, resulting in repopulation of the bone marrow and immune systems. </p><p>Arkwright et al. (1998) reported a sibship of 4 males born to unrelated parents, 3 of whom had X-linked lymphoproliferative disease. The proband was born at 33 weeks' gestation and developed neonatal varicella zoster infection complicated by tibial osteomyelitis. At 18 months of age, he developed infectious mononucleosis complicated by hepatitis and aplastic anemia. The latter responded well to oral corticosteroids, broad-spectrum antibiotics, and acyclovir. He later developed hypoglobulinemia and required regular intravenous infusions of immunoglobulin. An older brother was healthy until the age of 7, when he developed a fulminant cytomegalovirus infection (hemophagocytic lymphohistiocytosis). This responded to etoposide-based chemotherapy and a successful allogenic bone marrow transplant from his normal sib. At 4 months of age, another brother was shown by RFLP and microsatellite markers flanking the XLP locus to have inherited the high-risk haplotype. Although healthy, he was receiving prophylactic intravenous immunoglobulin infusions. This sibship demonstrated the varied clinical manifestations of X-linked lymphoproliferative disease. </p><p>Schuster and Kreth (1999) stated that the only means available to prevent EBV- and non-EBV-related complications in later life is early transplantation of allogeneic hematopoietic stem cells, i.e., cord blood or bone marrow (Vowels et al., 1993; Williams et al., 1993). The age of the patient at the time of transplantation appeared to be critical. Whereas 4 of 8 XLPD patients who underwent stem cell transplantation before the age of 15 years were alive and well for more than 2 years posttransplantation, all 4 boys older than 15 years of age at the time of transplantation died within 90 days of complications. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Skare et al. (1987, 1987) demonstrated linkage of XLP with marker DXS42, which maps to Xq24-q27 (lod score of 5.26). Haplotype analysis refined the XLP locus distal to DXS42 and proximal to DXS99. Skare et al. (1989) extended the linkage information on the family they reported in 1987 and studied 6 additional families, all of which corroborated the close linkage to DXS42 (1% recombination; lod = 17.5) and DXS37 (maximum lod = 13.3 at theta = 0.0.) </p><p>Hayoz et al. (1988) identified a large, extensively affected Swiss family with XLP, ascertained through a patient with acquired hypogammaglobulinemia associated with a mononucleosis syndrome at the age of 18 years; the patient died at 19. In this family, a new mutation in the F8 gene (300841) causing hemophilia A (306700) had occurred, resulting in a woman who was a carrier of both genes. She had a son with hemophilia, a daughter who was a carrier of both disorders, and a son who was free of both disorders. The doubly-heterozygous daughter had 1 son with XLPD and 1 son who was doubly affected. The observations suggested that the hemophilia A locus and the XLPD locus are far apart, a conclusion that was supported by other mapping data. </p><p>Harris et al. (1988) excluded linkage of XLP to 28 X-linked probes. Harris and Docherty (1988) found no particular chromosomal abnormalities in this disorder. One of their patients was found to have the Klinefelter syndrome, having inherited 2 copies of his maternal XLPD-carrying X chromosome. Wyandt et al. (1989) found deletion of part of band Xq25 in a male with this disorder; others found the same deletion in the mother and a sister. Skare et al. (1989) reported family linkage studies of the XLP-causing gene with several Xq DNA markers. They also reported 1 male of 14 unrelated affected persons who had a deletion in Xq which was thought to involve about one-half of Xq25. This male retained sequences at all 5 loci that had been found to be closely linked to XLP, but lacked DXS6 which by somatic hybrid mapping had been assigned to Xq26-qter. In a large Swiss family with XLP, Sylla et al. (1989) demonstrated linkage of XLP to marker DXS37, which is located in Xq25-q26. Multipoint linkage analysis showed that the XLP locus is distal to DXS11 but proximal to HPRT (308000). Sanger et al. (1990) demonstrated an interstitial deletion involving a portion of Xq25 in an affected male as well as in 1 sister and their mother. Using blot hybridization, Skare et al. (1993) identified 3 XLP males with deletions of Xq25 encompassing marker DXS739. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 9 unrelated patients with X-linked lymphoproliferative syndrome, Coffey et al. (1998) identified mutations in the SH2D1A gene (300490.0001-300490.0009). </p><p>In 2 brothers with early-onset non-Hodgkin lymphoma, but no clinical or laboratory evidence of EBV infection, Brandau et al. (1999) identified a deletion of exon 1 of the SH2D1A gene (300490.0010). Other SH2D1A mutations were identified in 2 additional unrelated patients without evidence of EBV infection; 1 had non-Hodgkin lymphoma and 1 had signs of dysgammaglobulinemia. Development of dysgammaglobulinemia and lymphoma without evidence of prior EBV infection in 4 patients suggested that EBV is unrelated to these particular phenotypes, in contrast to fulminant or fatal infectious mononucleosis. No SH2D1A mutations were found in 3 families in which clinical features were suggestive of XLP. </p><p>Sumegi et al. (1999) reviewed the molecular basis of Duncan disease. They tabulated 15 mutations in the SH2D1A gene. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Heterogeneity</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Rigaud et al. (2006) studied a cohort of 18 families with an inherited disease diagnosed as X-linked lymphoproliferative syndrome. Among them, 15 were found to harbor mutations in the SH2D1A gene. However, in affected individuals from 3 families, Rigaud et al. (2006) failed to detect mutations in the SH2D1A gene or any of its regulatory regions. Unlike SAP-deficient patients with XLP, these patients often had splenomegaly, noticed as their first clinical manifestation of this condition. Further investigations demonstrated that in these 3 families, XLP was caused by insufficiency of XIAP (300079). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Nichols et al. (2005) observed that Sh2d1a -/- mice lacked NKT cells in the thymus and peripheral organs. The defect in NKT cell ontogeny was hematopoietic cell-autonomous and could be rescued by reconstitution of Sh2d1a expression within Sh2d1a -/- bone marrow cells. Nichols et al. (2005) also studied 17 individuals with XLP and differing SH2D1A genotypes. All 17 lacked NKT cells, and a female XLP carrier showed completely skewed X chromosome inactivation within NKT cells, but not T or B cells. Nichols et al. (2005) concluded that SH2D1A is a crucial regulator of NKT cell ontogeny, and that the absence of NKT cells may contribute to the XLP phenotype, including abnormal antiviral and antitumor immunity and hypogammaglobulinemia. </p><p>Ma et al. (2005) analyzed 14 XLP patients from 9 families and found normal B-cell development but a marked reduction in the number of memory B cells; the few detected were IgM+, revealing deficient isotype switching in vivo. However, XLP B cells underwent proliferation and differentiation in vitro as efficiently as control B cells, indicating that the block in differentiation in vivo is B-cell extrinsic. XLP CD4+ (186940) T cells did not efficiently differentiate into IL10+ (124092) effector cells or provide optimal B-cell help in vitro; provision of exogenous IL10 or ectopic expression of SH2D1A, which increased IL10 production by T cells, improved the B-cell help. Ma et al. (2005) suggested that insufficient IL10 production may contribute to hypogammaglobulinemia in XLP. </p><p>Using immunohistochemistry and flow cytometric analysis, Ma et al. (2006) found that IgM-positive/CD27 (TNFRSF7; 186711)-positive B cells from XLP patients were morphologically and functionally similar to those from normal donors. The authors suggested that production of affinity-matured IgM by these cells may protect against pathogens to which a normal immune response is elicited in XLP patients. </p><p>By studying T-cell receptor (TCR; see 186740) restimulation of preactivated T cells from EBV-naive XLP patients after prolonged exposure to IL2 (147680), Snow et al. (2009) found that activated T cells from these patients were specifically and substantially less sensitive to restimulation-induced cell death (RICD). Silencing SAP or NTBA (SLAMF6; 606446) expression recapitulated resistance to RICD in normal T cells, indicating that both molecules are necessary for optimal TCR-induced apoptosis. TCR restimulation triggered increased recruitment of SAP to NTBA, and these proteins functioned to augment TCR-induced signal strength and induction of downstream proapoptotic target genes, including FASL (TNFSF6; 134638) and BIM (BCL2L11; 603827). Snow et al. (2009) proposed that XLP patients are inherently susceptible to antigen-induced lymphoproliferative disease and fulminant infectious mononucleosis due to compromised RICD. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Schuster and Kreth (1999) attributed the first report of a family with XLP to Hambleton and Cottom (1969), who described a family in which 2 brothers suffered from hypogammaglobulinemia and malignant lymphoma following infectious mononucleosis. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Levine et al. (1982); Loeffel et al. (1985); Lyon and Loutit (1983);
Purtilo et al. (1978); Purtilo et al. (1977); Purtilo (1976); Skare
et al. (1989); Steinherz et al. (1985)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Arkwright, P. D., Makin, G., Will, A. M., Ayres, M., Gokhale, D. A., Fergusson, W. D., Taylor, G. M.
<strong>X linked lymphoproliferative disease in a United Kingdom family.</strong>
Arch. Dis. Child. 79: 52-55, 1998.
[PubMed: 9771253]
[Full Text: https://doi.org/10.1136/adc.79.1.52]
</p>
</li>
<li>
<p class="mim-text-font">
Bar, R. S., DeLor, C. J., Clausen, K. P., Hurtubise, P., Henle, W., Hewetson, J. F.
<strong>Fatal infectious mononucleosis in a family.</strong>
New Eng. J. Med. 290: 363-367, 1974.
[PubMed: 4358992]
[Full Text: https://doi.org/10.1056/NEJM197402142900704]
</p>
</li>
<li>
<p class="mim-text-font">
Booth, C., Gilmour, K. C., Veys, P., Gennery, A. R., Slatter, M. A., Chapel, H., Heath, P. T., Steward, C. G., Smith, O., O'Meara, A., Kerrigan, H., Mahlaoui N., and 36 others.
<strong>X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.</strong>
Blood 117: 53-62, 2011. Note: Erratum: Blood 118: 5060 only, 2011.
[PubMed: 20926771]
[Full Text: https://doi.org/10.1182/blood-2010-06-284935]
</p>
</li>
<li>
<p class="mim-text-font">
Brandau, O., Schuster, V., Weiss, M., Hellebrand, H., Fink, F. M., Kreczy, A., Friedrich, W., Strahm, B., Niemeyer, C., Belohradsky, B. H., Meindl, A.
<strong>Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).</strong>
Hum. Molec. Genet. 8: 2407-2413, 1999.
[PubMed: 10556288]
[Full Text: https://doi.org/10.1093/hmg/8.13.2407]
</p>
</li>
<li>
<p class="mim-text-font">
Coffey, A. J., Brooksbank, R. A., Brandau, O., Oohashi, T., Howell, G. R., Bye, J. M., Cahn, A. P., Durham, J., Heath, P., Wray, P., Pavitt, R., Wilkinson, J., and 31 others.
<strong>Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.</strong>
Nature Genet. 20: 129-135, 1998.
[PubMed: 9771704]
[Full Text: https://doi.org/10.1038/2424]
</p>
</li>
<li>
<p class="mim-text-font">
Dutz, J. P., Benoit, L., Wang, X., Demetrick, D. J., Junker, A., de Sa, D., Tan, R.
<strong>Lymphocytic vasculitis in X-linked lymphoproliferative disease.</strong>
Blood 97: 95-100, 2001.
[PubMed: 11133747]
[Full Text: https://doi.org/10.1182/blood.v97.1.95]
</p>
</li>
<li>
<p class="mim-text-font">
Grierson, H. L., Skare, J., Church, J., Silberman, T., Davis, J. R., Kobrinsky, N., McGregor, R., Israels, S., McCarty, J., Andrews, L. G., Blecha, T., Erdman, S., Obringer, A., Scharnhorst, D., Purtilo, D. T.
<strong>Evaluation of families wherein a single male manifests a phenotype of X-linked lymphoproliferative disease (XLP).</strong>
Am. J. Med. Genet. 47: 458-463, 1993.
[PubMed: 8256804]
[Full Text: https://doi.org/10.1002/ajmg.1320470404]
</p>
</li>
<li>
<p class="mim-text-font">
Hambleton, G., Cottom, D. G.
<strong>Familial lymphoma.</strong>
Proc. Roy. Soc. Med. 62: 1095 only, 1969.
[PubMed: 5395225]
</p>
</li>
<li>
<p class="mim-text-font">
Hamilton, J. K., Paquin, L. A., Sullivan, J. L., Maurer, H. S., Cruzi, F. G., Provisor, A. J., Steuber, C. P., Hawkins, E., Yawn, D., Cornet, J., Clausen, K., Finkelstein, G. Z., Landing, B., Grunnet, M., Purtilo, D. T.
<strong>X-linked lymphoproliferative syndrome registry report.</strong>
J. Pediat. 96: 669-673, 1980.
[PubMed: 7188959]
[Full Text: https://doi.org/10.1016/s0022-3476(80)80735-9]
</p>
</li>
<li>
<p class="mim-text-font">
Harris, A., Docherty, Z.
<strong>X-linked lymphoproliferative disease: a karyotype analysis.</strong>
Cytogenet. Cell Genet. 47: 92-94, 1988.
[PubMed: 2833379]
[Full Text: https://doi.org/10.1159/000132516]
</p>
</li>
<li>
<p class="mim-text-font">
Harris, A., Lenoir, G. M., Lankester, S. A.
<strong>X-linked lymphoproliferative disease: linkage studies using DNA probes.</strong>
Clin. Genet. 33: 162-168, 1988.
[PubMed: 2896078]
[Full Text: https://doi.org/10.1111/j.1399-0004.1988.tb03432.x]
</p>
</li>
<li>
<p class="mim-text-font">
Hayoz, D., Lenoir, G. M., Nicole, A., Pugin, P., Regamey, C.
<strong>X-linked lymphoproliferative syndrome: identification of a large family in Switzerland.</strong>
Am. J. Med. 84: 529-534, 1988.
[PubMed: 3348254]
[Full Text: https://doi.org/10.1016/0002-9343(88)90278-1]
</p>
</li>
<li>
<p class="mim-text-font">
Levine, P. H., Kamaraju, L. S., Connelly, R. R., Berard, C. W., Dorfman, R. F., Magrath, I., Easton, J. M.
<strong>The American Burkitt&#x27;s Lymphoma Registry: eight years&#x27; experience.</strong>
Cancer 49: 1016-1022, 1982.
[PubMed: 7059918]
[Full Text: https://doi.org/10.1002/1097-0142(19820301)49:5&lt;1016::aid-cncr2820490527&gt;3.0.co;2-h]
</p>
</li>
<li>
<p class="mim-text-font">
Loeffel, S., Chang, C.-H., Heyn, R., Harada, S., Lipscomb, H., Sinangil, F., Volsky, D. J., McClain, K., Ochs, H., Purtilo, D. T.
<strong>Necrotizing lymphoid vasculitis in X-linked lymphoproliferative syndrome.</strong>
Arch. Path. Lab. Med. 109: 546-550, 1985.
[PubMed: 2986573]
</p>
</li>
<li>
<p class="mim-text-font">
Lyon, M. F., Loutit, J. F.
<strong>X-linked factor in acquired immunodeficiency syndrome? (Letter)</strong>
Lancet 321: 768 only, 1983. Note: Originally Volume I.
[PubMed: 6132113]
[Full Text: https://doi.org/10.1016/s0140-6736(83)92059-7]
</p>
</li>
<li>
<p class="mim-text-font">
Ma, C. S., Hare, N. J., Nichols, K. E., Dupre, L., Andolfi, G., Roncarolo, M.-G., Adelstein, S., Hodgkin, P. D., Tangye, S. G.
<strong>Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells.</strong>
J. Clin. Invest. 115: 1049-1059, 2005.
[PubMed: 15761493]
[Full Text: https://doi.org/10.1172/JCI23139]
</p>
</li>
<li>
<p class="mim-text-font">
Ma, C. S., Pittaluga, S., Avery, D. T., Hare, N. J., Maric, I., Klion, A. D., Nichols, K. E., Tangye, S. G.
<strong>Selective generation of functional somatically mutated IgM+CD27+, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative disease.</strong>
J. Clin. Invest. 116: 322-333, 2006.
[PubMed: 16424938]
[Full Text: https://doi.org/10.1172/JCI25720]
</p>
</li>
<li>
<p class="mim-text-font">
Mulley, J. C., Turner, A. M., Gedeon, A. K., Berdoukas, V. A., Huang, T. H. M., Ledbetter, D. H., Grierson, H., Purtilo, D. T.
<strong>X-linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male.</strong>
Clin. Genet. 42: 76-79, 1992.
[PubMed: 1358486]
[Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03143.x]
</p>
</li>
<li>
<p class="mim-text-font">
Nichols, K. E., Hom, J., Gong, S.-Y., Ganguly, A., Ma, C. S., Cannons, J. L., Tangye, S. G., Schwartzberg, P. L., Koretzky, G. A., Stein, P. L.
<strong>Regulation of NKT cell development by SAP, the protein defective in XLP.</strong>
Nature Med. 11: 340-345, 2005.
[PubMed: 15711562]
[Full Text: https://doi.org/10.1038/nm1189]
</p>
</li>
<li>
<p class="mim-text-font">
Provisor, A. J., Iacuone, J. J., Chilcote, R. R., Neiburger, R. G., Crussi, F. G., Baehner, R. L.
<strong>Acquired agammaglobulinemia after a life-threatening illness with clinical and laboratory features of infectious mononucleosis in three related male children.</strong>
New Eng. J. Med. 293: 62-65, 1975.
[PubMed: 165416]
[Full Text: https://doi.org/10.1056/NEJM197507102930202]
</p>
</li>
<li>
<p class="mim-text-font">
Purtilo, D. T., Bhawan, J., Hutt, L. M., De Nicola, L., Szymanski, I., Yang, J. P. S., Boto, W., Naier, R., Thorley-Lawson, D.
<strong>Epstein-Barr virus in the X-linked recessive lymphoproliferative syndrome.</strong>
Lancet 311: 798-801, 1978. Note: Originally Volume I.
[PubMed: 85816]
[Full Text: https://doi.org/10.1016/s0140-6736(78)92999-9]
</p>
</li>
<li>
<p class="mim-text-font">
Purtilo, D. T., Cassel, C. K., Yang, J. P. S., Harper, R., Stephenson, S. R., Landing, B. H., Vewter, G. F.
<strong>X-linked recessive progressive combined variable immunodeficiency (Duncan&#x27;s disease).</strong>
Lancet 305: 935-941, 1975. Note: Originally Volume I.
[PubMed: 48119]
[Full Text: https://doi.org/10.1016/s0140-6736(75)92004-8]
</p>
</li>
<li>
<p class="mim-text-font">
Purtilo, D. T., Cassel, C. K., Yang, J. P. S.
<strong>Fatal infectious mononucleosis in familial lymphohistiocytosis. (Letter)</strong>
New Eng. J. Med. 291: 736 only, 1974.
[PubMed: 4852784]
[Full Text: https://doi.org/10.1056/nejm197410032911415]
</p>
</li>
<li>
<p class="mim-text-font">
Purtilo, D. T., DeFlorio, D., Jr., Hutt, L. M., Bhawan, J., Yang, J. P. S., Otto, R. L., Edwards, W.
<strong>Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome.</strong>
New Eng. J. Med. 297: 1077-1081, 1977.
[PubMed: 198660]
[Full Text: https://doi.org/10.1056/NEJM197711172972001]
</p>
</li>
<li>
<p class="mim-text-font">
Purtilo, D. T., Grierson, H. L.
<strong>Methods of detection of new families with X-linked lymphoproliferative disease.</strong>
Cancer Genet. Cytogenet. 51: 143-153, 1991.
[PubMed: 1847089]
[Full Text: https://doi.org/10.1016/0165-4608(91)90127-g]
</p>
</li>
<li>
<p class="mim-text-font">
Purtilo, D. T., Sakamoto, K., Barnabei, V., Seeley, J., Bechtold, T., Rogers, G., Yetz, J., Harada, S., the XLP collaborators.
<strong>Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): update on studies of the registry.</strong>
Am. J. Med. 73: 49-56, 1982.
[PubMed: 6283885]
[Full Text: https://doi.org/10.1016/0002-9343(82)90923-8]
</p>
</li>
<li>
<p class="mim-text-font">
Purtilo, D. T., Yang, J. P. S., Allegra, S., DeFlorio, D., Hutt, L. M., Soltani, M., Vawter, G. F.
<strong>Hematopathology and pathogenesis of the X-linked recessive lymphoproliferative syndrome.</strong>
Am. J. Med. 62: 225-233, 1977.
[PubMed: 835602]
[Full Text: https://doi.org/10.1016/0002-9343(77)90318-7]
</p>
</li>
<li>
<p class="mim-text-font">
Purtilo, D. T.
<strong>Pathogenesis and phenotypes of an X-linked recessive lymphoproliferative syndrome.</strong>
Lancet 308: 882-885, 1976. Note: Originally Volume II.
[PubMed: 62116]
[Full Text: https://doi.org/10.1016/s0140-6736(76)90542-0]
</p>
</li>
<li>
<p class="mim-text-font">
Purtilo, D. T.
<strong>X-linked lymphoproliferative syndrome: an immunodeficiency disorder with acquired agammaglobulinemia, fatal infectious mononucleosis, or malignant lymphoma.</strong>
Arch. Path. Lab. Med. 105: 119-121, 1981.
[PubMed: 6894075]
</p>
</li>
<li>
<p class="mim-text-font">
Rigaud, S., Fondaneche, M.-C., Lambert, N., Pasquier, B., Mateo, V., Soulas, P., Galicier, L., Le Deist, F., Rieux-Laucat, F., Revy, P., Fischer, A., de Saint Basile, G., Latour, S.
<strong>XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.</strong>
Nature 444: 110-114, 2006.
[PubMed: 17080092]
[Full Text: https://doi.org/10.1038/nature05257]
</p>
</li>
<li>
<p class="mim-text-font">
Sanger, W. G., Grierson, H. L., Skare, J., Wyandt, H., Pirruccello, S., Fordyce, R., Purtilo, D. T.
<strong>Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP).</strong>
Cancer Genet. Cytogenet. 47: 163-169, 1990.
[PubMed: 1972651]
[Full Text: https://doi.org/10.1016/0165-4608(90)90026-7]
</p>
</li>
<li>
<p class="mim-text-font">
Schuster, V., Kreth, H. W.
<strong>X-linked lymphoproliferative disease. In: Ochs, H. D.; Smith, C. I. E.; Puck, J. M. (eds.): Primary Immunodeficiency Diseases: A Molecular and Genetic Approach.</strong>
New York: Oxford University Press 1999. Pp. 222-232.
</p>
</li>
<li>
<p class="mim-text-font">
Seemayer, T. A., Gross, T. G., Egeler, R. M., Pirruccello, S. J., Davis, D. J., Kelly, C. M., Okano, M., Lanyi, A., Sumegi, J.
<strong>X-linked lymphoproliferative disease: twenty-five years after the discovery.</strong>
Pediat. Res. 38: 471-478, 1995.
[PubMed: 8559596]
[Full Text: https://doi.org/10.1203/00006450-199510000-00001]
</p>
</li>
<li>
<p class="mim-text-font">
Skare, J. C., Grierson, H. L., Sullivan, J. L., Nussbaum, R. L., Purtilo, D. T., Sylla, B. S., Lenoir, G. M., Reilly, D. S., White, B. N., Milunsky, A.
<strong>Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37.</strong>
Hum. Genet. 82: 354-358, 1989.
[PubMed: 2567696]
[Full Text: https://doi.org/10.1007/BF00273997]
</p>
</li>
<li>
<p class="mim-text-font">
Skare, J. C., Milunsky, A., Byron, K. S., Sullivan, J. L.
<strong>Mapping the X-linked lymphoproliferative syndrome.</strong>
Proc. Nat. Acad. Sci. 84: 2015-2018, 1987.
[PubMed: 2882515]
[Full Text: https://doi.org/10.1073/pnas.84.7.2015]
</p>
</li>
<li>
<p class="mim-text-font">
Skare, J. C., Sullivan, J. L., Milunsky, A.
<strong>Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq.</strong>
Hum. Genet. 82: 349-353, 1989.
[PubMed: 2567695]
[Full Text: https://doi.org/10.1007/BF00273996]
</p>
</li>
<li>
<p class="mim-text-font">
Skare, J., Grierson, H., Wyandt, H., Sanger, W., Milunsky, J., Purtilo, D., Sullivan, J., Milunsky, A.
<strong>Genetics of the X-linked lymphoproliferative syndrome. (Abstract)</strong>
Am. J. Hum. Genet. 45 (suppl.): A161 only, 1989.
</p>
</li>
<li>
<p class="mim-text-font">
Skare, J., Madan, S., Glaser, J., Purtilo, D., Nitowsky, H., Pulijaal, V., Milunsky, A.
<strong>First prenatal diagnosis of X-linked lymphoproliferative disease.</strong>
Am. J. Med. Genet. 44: 79-81, 1992.
[PubMed: 1355632]
[Full Text: https://doi.org/10.1002/ajmg.1320440119]
</p>
</li>
<li>
<p class="mim-text-font">
Skare, J., Milunsky, A., Byron, K., Sullivan, J.
<strong>The mutation causing X-linked lymphoproliferative syndrome lies in Xq26. (Abstract)</strong>
Am. J. Hum. Genet. 41: A185 only, 1987.
</p>
</li>
<li>
<p class="mim-text-font">
Skare, J., Wu, B.-L., Madan, S., Pulijaal, V., Purtilo, D., Haber, D., Nelson, D., Sylla, B., Grierson, H., Nitowsky, H., Glaser, J., Wissink, J., White, B., Holden, J., Housman, D., Lenoir, G., Wyandt, H., Milunsky, A.
<strong>Characterization of three overlapping deletions causing X-linked lymphoproliferative disease.</strong>
Genomics 16: 254-255, 1993.
[PubMed: 8387453]
[Full Text: https://doi.org/10.1006/geno.1993.1169]
</p>
</li>
<li>
<p class="mim-text-font">
Snow, A. L., Marsh, R. A., Krummey, S. M., Roehrs, P., Young, L. R., Zhang, K., van Hoff, J., Dhar, D., Nichols, K. E., Filipovich, A. H., Su, H. C., Bleesing, J. J., Lenardo, M. J.
<strong>Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency.</strong>
J. Clin. Invest. 119: 2976-2989, 2009.
[PubMed: 19759517]
[Full Text: https://doi.org/10.1172/JCI39518]
</p>
</li>
<li>
<p class="mim-text-font">
Steinherz, R., Levy, Y., Litwin, A., Nitzan, M., Friedman, E., Levin, S.
<strong>X-linked lymphoproliferative syndrome: a new kindred with variable phenotypic expression.</strong>
Am. J. Dis. Child. 139: 191-193, 1985.
[PubMed: 3883747]
[Full Text: https://doi.org/10.1001/archpedi.1985.02140040093036]
</p>
</li>
<li>
<p class="mim-text-font">
Sullivan, J. L., Byron, K. S., Brewster, F. E., Baker, S. M., Ochs, H. D.
<strong>X-linked lymphoproliferative syndrome: natural history of the immunodeficiency.</strong>
J. Clin. Invest. 71: 1765-1778, 1983.
[PubMed: 6306053]
[Full Text: https://doi.org/10.1172/jci110932]
</p>
</li>
<li>
<p class="mim-text-font">
Sullivan, J. L., Byron, K. S., Brewster, F. E., Purtilo, D. T.
<strong>Deficient natural killer cell activity in X-linked lymphoproliferative syndrome.</strong>
Science 210: 543-545, 1980.
[PubMed: 6158759]
[Full Text: https://doi.org/10.1126/science.6158759]
</p>
</li>
<li>
<p class="mim-text-font">
Sumegi, J., Gross, T. G., Seemayer, T. A.
<strong>The molecular genetics of X-linked lymphoproliferative (Duncan&#x27;s) disease.</strong>
Cancer J. Sci. Am. 5: 57-62, 1999.
[PubMed: 10198724]
</p>
</li>
<li>
<p class="mim-text-font">
Sylla, B. S., Wang, Q., Hayoz, D., Lathrop, G. M., Lenoir, G. M.
<strong>Multipoint linkage mapping of the Xq25-q26 region in a family affected by the X-linked lymphoproliferative syndrome.</strong>
Clin. Genet. 36: 459-462, 1989.
[PubMed: 2574086]
[Full Text: https://doi.org/10.1111/j.1399-0004.1989.tb03377.x]
</p>
</li>
<li>
<p class="mim-text-font">
Verhelst, H., Van Coster, R., Bockaert, N., Laureys, G., Latour, S., Fischer, A., Haerynck, F.
<strong>Limbic encephalitis as presentation of a SAP deficiency.</strong>
Neurology 69: 218-219, 2007.
[PubMed: 17620557]
[Full Text: https://doi.org/10.1212/01.wnl.0000265597.56202.6c]
</p>
</li>
<li>
<p class="mim-text-font">
Vowels, M. R., Lam-Po-Tang, R., Berdoukas, V., Ford, D., Thierry, D., Purtilo, D., Gluckman, E.
<strong>Correction of X-linked lymphoproliferative disease by transplantation of cord-blood stem cells.</strong>
New Eng. J. Med. 329: 1623-1625, 1993.
[PubMed: 8232431]
[Full Text: https://doi.org/10.1056/NEJM199311253292205]
</p>
</li>
<li>
<p class="mim-text-font">
Williams, L. L., Rooney, C. M., Conley, M. E., Brenner, M. K., Krance, R. A., Heslop, H. E.
<strong>Correction of Duncan&#x27;s syndrome by allogeneic bone marrow transplantation.</strong>
Lancet 342: 587-588, 1993.
[PubMed: 8102723]
[Full Text: https://doi.org/10.1016/0140-6736(93)91413-g]
</p>
</li>
<li>
<p class="mim-text-font">
Wyandt, H. E., Skare, J. C., Grierson, H. L., Purtilo, D. T., Milunsky, A.
<strong>Detection of a chromosomal deletion of Xq25 in an affected male with X-linked lymphoproliferative disease. (Abstract)</strong>
Am. J. Hum. Genet. 45 (suppl.): A108 only, 1989.
</p>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Contributors:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 7/20/2011<br>Paul J. Converse - updated : 8/30/2010<br>Cassandra L. Kniffin - updated : 11/30/2007<br>Ada Hamosh - updated : 1/10/2007<br>Paul J. Converse - updated : 9/7/2006<br>Marla J. F. O&#x27;Neill - updated : 7/8/2005<br>Marla J. F. O&#x27;Neill - updated : 3/29/2005<br>Cassandra L. Kniffin - reorganized : 5/26/2004<br>Marla J. F. O&#x27;Neill - updated : 4/5/2004<br>Paul J. Converse - updated : 9/10/2003<br>Victor A. McKusick - updated : 8/29/2003<br>Paul J. Converse - updated : 1/15/2003<br>Victor A. McKusick - updated : 11/9/2001<br>Victor A. McKusick - updated : 9/12/2001<br>Victor A. McKusick - updated : 8/1/2001<br>Paul J. Converse - updated : 7/17/2001<br>Victor A. McKusick - updated : 4/3/2001<br>Paul J. Converse - updated : 1/23/2001<br>Victor A. McKusick - updated : 1/5/2001<br>Victor A. McKusick - updated : 11/14/2000<br>Victor A. McKusick - updated : 8/16/2000<br>Victor A. McKusick - updated : 6/1/2000<br>Victor A. McKusick - updated : 12/6/1999<br>Stylianos E. Antonarakis - updated : 11/19/1999<br>Victor A. McKusick - updated : 9/23/1999<br>Paul Brennan - updated : 2/15/1999<br>Victor A. McKusick - updated : 9/29/1998<br>Victor A. McKusick - updated : 9/24/1998
</span>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 6/4/1986
</span>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Edit History:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
carol : 05/03/2022<br>alopez : 01/09/2019<br>ckniffin : 12/20/2018<br>carol : 06/27/2017<br>carol : 03/20/2013<br>ckniffin : 3/19/2013<br>terry : 8/22/2012<br>wwang : 7/27/2011<br>ckniffin : 7/20/2011<br>carol : 4/7/2011<br>mgross : 10/4/2010<br>terry : 8/30/2010<br>terry : 3/31/2009<br>mgross : 2/5/2008<br>wwang : 12/7/2007<br>ckniffin : 11/30/2007<br>mgross : 11/5/2007<br>terry : 11/2/2007<br>alopez : 1/16/2007<br>terry : 1/10/2007<br>mgross : 9/7/2006<br>wwang : 7/20/2005<br>wwang : 7/14/2005<br>terry : 7/8/2005<br>wwang : 3/30/2005<br>wwang : 3/29/2005<br>terry : 6/3/2004<br>carol : 5/26/2004<br>ckniffin : 4/14/2004<br>carol : 4/5/2004<br>alopez : 3/17/2004<br>mgross : 9/10/2003<br>mgross : 9/10/2003<br>tkritzer : 9/5/2003<br>terry : 8/29/2003<br>mgross : 1/15/2003<br>carol : 11/28/2001<br>mcapotos : 11/27/2001<br>terry : 11/9/2001<br>mcapotos : 9/18/2001<br>mcapotos : 9/12/2001<br>mcapotos : 8/16/2001<br>mcapotos : 8/10/2001<br>mcapotos : 8/9/2001<br>mcapotos : 8/7/2001<br>terry : 8/1/2001<br>mgross : 7/17/2001<br>cwells : 4/9/2001<br>cwells : 4/4/2001<br>mcapotos : 4/3/2001<br>mcapotos : 4/3/2001<br>mcapotos : 2/13/2001<br>mgross : 1/23/2001<br>mcapotos : 1/17/2001<br>mcapotos : 1/11/2001<br>terry : 1/5/2001<br>carol : 12/7/2000<br>terry : 11/14/2000<br>terry : 11/14/2000<br>carol : 10/20/2000<br>carol : 8/21/2000<br>terry : 8/16/2000<br>mcapotos : 6/15/2000<br>mcapotos : 6/14/2000<br>terry : 6/1/2000<br>mgross : 4/13/2000<br>mgross : 12/13/1999<br>mgross : 12/10/1999<br>mgross : 12/10/1999<br>terry : 12/6/1999<br>mgross : 11/19/1999<br>carol : 10/7/1999<br>mgross : 10/7/1999<br>terry : 9/23/1999<br>alopez : 2/15/1999<br>carol : 2/5/1999<br>carol : 11/17/1998<br>terry : 11/10/1998<br>dkim : 10/13/1998<br>alopez : 9/29/1998<br>terry : 9/29/1998<br>alopez : 9/24/1998<br>alopez : 9/24/1998<br>alopez : 9/24/1998<br>alopez : 9/24/1998<br>joanna : 9/24/1998<br>dkim : 7/21/1998<br>alopez : 7/29/1997<br>alopez : 7/8/1997<br>mark : 11/10/1995<br>terry : 11/9/1995<br>mimadm : 5/4/1994<br>warfield : 3/14/1994<br>carol : 11/29/1993<br>carol : 11/3/1993
</span>
</div>
</div>
</div>
<div>
<br />
</div>
</div>
</div>
</div>
</div>
<div id="mimFooter">
<div class="container ">
<div class="row">
<br />
<br />
</div>
</div>
<div class="hidden-print mim-footer">
<div class="container">
<div class="row">
<p />
</div>
<div class="row text-center small">
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
<br />
OMIM<sup>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
<br />
Copyright<sup>&reg;</sup> 1966-2025 Johns Hopkins University.
</div>
</div>
</div>
<div class="visible-print-block mim-footer" style="position: relative;">
<div class="container">
<div class="row">
<p />
</div>
<div class="row text-center small">
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
<br />
OMIM<sup>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
<br />
Copyright<sup>&reg;</sup> 1966-2025 Johns Hopkins University.
<br />
Printed: March 5, 2025
</div>
</div>
</div>
</div>
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
<div class="modal-dialog" role="document">
<div class="modal-content">
<div class="modal-header">
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">&times;</span></button>
<h4 class="modal-title" id="mimDonationPopupModalTitle">
OMIM Donation:
</h4>
</div>
<div class="modal-body">
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
Dear OMIM User,
</p>
</div>
</div>
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
To ensure long-term funding for the OMIM project, we have diversified
our revenue stream. We are determined to keep this website freely
accessible. Unfortunately, it is not free to produce. Expert curators
review the literature and organize it to facilitate your work. Over 90%
of the OMIM's operating expenses go to salary support for MD and PhD
science writers and biocurators. Please join your colleagues by making a
donation now and again in the future. Donations are an important
component of our efforts to ensure long-term funding to provide you the
information that you need at your fingertips.
</p>
</div>
</div>
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
Thank you in advance for your generous support, <br />
Ada Hamosh, MD, MPH <br />
Scientific Director, OMIM <br />
</p>
</div>
</div>
</div>
<div class="modal-footer">
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
</div>
</div>
</div>
</div>
</div>
</body>
</html>
Reference in a new issue View git blame Copy permalink