494 lines
41 KiB
Text
494 lines
41 KiB
Text
<!DOCTYPE html>
|
||
<html class="no-js" lang="en" dir="ltr" prefix="content: http://purl.org/rss/1.0/modules/content/ dc: http://purl.org/dc/terms/ foaf: http://xmlns.com/foaf/0.1/ rdfs: http://www.w3.org/2000/01/rdf-schema# sioc: http://rdfs.org/sioc/ns# sioct: http://rdfs.org/sioc/types# skos: http://www.w3.org/2004/02/skos/core# xsd: http://www.w3.org/2001/XMLSchema#">
|
||
<head>
|
||
<title>NIH researchers discover new autoinflammatory disease and uncover its biological cause | National Institutes of Health (NIH)</title>
|
||
<meta charset="utf-8" />
|
||
<script type="text/javascript">
|
||
//<![CDATA[
|
||
var usasearch_config = { siteHandle:"nih" };
|
||
|
||
var script = document.createElement("script");
|
||
script.type = "text/javascript";
|
||
script.src = "//search.usa.gov/javascripts/remote.loader.js";
|
||
document.getElementsByTagName("head")[0].appendChild(script);
|
||
|
||
//]]>
|
||
</script><link rel="shortcut icon" href="https://www.nih.gov/favicon.ico" type="image/vnd.microsoft.icon" />
|
||
<meta name="google-site-verification" content="rjIoO4vW0AYgltSYvxM1L_CzGIkq28kHf9gHIASKx8s" />
|
||
<link rel="profile" href="http://www.w3.org/1999/xhtml/vocab" />
|
||
<meta http-equiv="cleartype" content="on" />
|
||
<link rel="apple-touch-icon" href="https://www.nih.gov/sites/all/themes/nih/apple-touch-icon.png" />
|
||
<meta name="description" content="Mutations in the RIPK1 gene responsible for CRIA syndrome." />
|
||
<meta name="keywords" content="“NIH, NHGRI, researchers, discover, autoinflammatory, disease, uncover, biological, cause, CRIA syndrome”" />
|
||
<meta name="robots" content="follow, index" />
|
||
<meta name="viewport" content="width=device-width, initial-scale=1.0" />
|
||
<meta name="generator" content="Drupal 7 (http://drupal.org)" />
|
||
<link rel="canonical" href="https://www.nih.gov/news-events/news-releases/nih-researchers-discover-new-autoinflammatory-disease-uncover-its-biological-cause" />
|
||
<link rel="shortlink" href="https://www.nih.gov/node/41976" />
|
||
<meta http-equiv="content-language" content="EN" />
|
||
<meta property="og:site_name" content="National Institutes of Health (NIH)" />
|
||
<meta property="og:type" content="article" />
|
||
<meta property="og:title" content="NIH researchers discover new autoinflammatory disease and uncover its biological cause" />
|
||
<meta property="og:url" content="https://www.nih.gov/news-events/news-releases/nih-researchers-discover-new-autoinflammatory-disease-uncover-its-biological-cause" />
|
||
<meta property="og:description" content="Mutations in the RIPK1 gene responsible for CRIA syndrome." />
|
||
<meta property="og:updated_time" content="2019-12-23T11:58:30-05:00" />
|
||
<meta property="og:image" content="https://www.nih.gov/sites/default/files/news-events/news-releases/2019/20191223-dna-1.jpg" />
|
||
<meta property="og:image:url" content="https://www.nih.gov/sites/default/files/news-events/news-releases/2019/20191223-dna-1.jpg" />
|
||
<meta name="twitter:card" content="summary_large_image" />
|
||
<meta name="twitter:url" content="https://www.nih.gov/news-events/news-releases/nih-researchers-discover-new-autoinflammatory-disease-uncover-its-biological-cause" />
|
||
<meta name="twitter:title" content="NIH researchers discover new autoinflammatory disease and uncover its" />
|
||
<meta name="twitter:description" content="Mutations in the RIPK1 gene responsible for CRIA syndrome." />
|
||
<meta name="twitter:image" content="https://www.nih.gov/sites/default/files/news-events/news-releases/2019/20191223-dna-1.jpg" />
|
||
<meta property="article:published_time" content="2019-12-23T07:24:16-05:00" />
|
||
<meta property="article:modified_time" content="2019-12-23T11:58:30-05:00" />
|
||
<meta name="published_date" content="2019-12-23T07:24:16-05:00" />
|
||
<meta name="last_revision" content="2019-12-23T11:58:30-05:00" />
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css_PfvPCWanzn7FjDwZqwAHhPoOxYKwkQP-RZSK1pFFG0s.css" media="all" />
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css__mIWP9gcStq74isjZVoAAsiih8VXwJoN75Nyw_BXrj0.css" media="screen" />
|
||
<style media="print">#sb-container{position:relative;}#sb-overlay{display:none;}#sb-wrapper{position:relative;top:0;left:0;}#sb-loading{display:none;}
|
||
</style>
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css_jENQOQqZCRFGZK__DTefxYiXR2RUf03k1ugj3_Vg7vk.css" media="all" />
|
||
<link type="text/css" rel="stylesheet" href="//cdn.jsdelivr.net/qtip2/3.0.3/jquery.qtip.min.css" media="all" />
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css_3yt-b0M1HNJsvKsXwYjh5TEtX2lJGAvJvtmVAfORYZs.css" media="all" />
|
||
<link type="text/css" rel="stylesheet" href="//fonts.googleapis.com/css?family=Droid+Sans:700,regular|Droid+Serif:italic,regular&subset=latin" media="all" />
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css_E4VlyxyL3JMcT6dslWLGb0uQdoI2bh_Xj0N65V-bcWo.css" media="all" />
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css_5rDMv37-JxnNA70cRr_1jlAjVs56DCb8EN4XB2QLl0c.css" media="all" />
|
||
|
||
<!--[if lte IE 8]>
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css_aLJB_yHt22A_mQek4IRDNsur5tEkCpqLe72j_w6QHQ0.css" media="all" />
|
||
<![endif]-->
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css_KviiBystpJcQq4MplcQZvCFxnu9V763f5bPq_AKh4xM.css" media="all" />
|
||
<script src="https://www.nih.gov/sites/default/files/js/js_mQAv54bz2JVXcwS5QWlz0fVY9Os67zeu9bgNqtlVLPY.js"></script>
|
||
<script src="//code.jquery.com/jquery-2.2.4.min.js"></script>
|
||
<script>window.jQuery || document.write("<script src='/sites/all/modules/contrib/jquery_update/replace/jquery/2.2/jquery.min.js'>\x3C/script>")</script>
|
||
<script>jQuery.migrateMute=true;jQuery.migrateTrace=false;</script>
|
||
<script src="//code.jquery.com/jquery-migrate-1.4.1.min.js"></script>
|
||
<script>window.jQuery && window.jQuery.migrateWarnings || document.write("<script src='/sites/all/modules/contrib/jquery_update/replace/jquery-migrate/1.4.1/jquery-migrate.min.js'>\x3C/script>")</script>
|
||
<script src="https://www.nih.gov/sites/default/files/js/js_9sGTPBGcOGZjLiSLGrYEnuUf8VdvLmL_DEZNNNbnHXk.js"></script>
|
||
<script src="https://www.nih.gov/sites/default/files/js/js_hNnF7a_sbk6nZ2-mOamHzalYND7HBHDLRInsaU93HDk.js"></script>
|
||
<script>document.createElement( "picture" );</script>
|
||
<script src="https://www.nih.gov/sites/default/files/js/js_gHk2gWJ_Qw_jU2qRiUmSl7d8oly1Cx7lQFrqcp3RXcI.js"></script>
|
||
<script src="//cdn.jsdelivr.net/qtip2/3.0.3/jquery.qtip.min.js"></script>
|
||
<script defer="defer" src="//script.crazyegg.com/pages/scripts/0011/2616.js"></script>
|
||
<script src="https://www.nih.gov/sites/default/files/js/js_3s0l7MQ3oYmGkNAypyzCJq3a0wT85XX_P1SLgnph5K4.js"></script>
|
||
<script>
|
||
Shadowbox.path = "/sites/all/libraries/shadowbox/";
|
||
</script>
|
||
<script>jQuery.extend(Drupal.settings, {"basePath":"\/","pathPrefix":"","setHasJsCookie":0,"instances":"{\u0022default\u0022:{\u0022content\u0022:{\u0022text\u0022:\u0022\u0022},\u0022style\u0022:{\u0022tip\u0022:false,\u0022classes\u0022:\u0022\u0022},\u0022position\u0022:{\u0022at\u0022:\u0022bottom right\u0022,\u0022adjust\u0022:{\u0022method\u0022:\u0022\u0022},\u0022my\u0022:\u0022top left\u0022,\u0022viewport\u0022:false},\u0022show\u0022:{\u0022event\u0022:\u0022mouseenter \u0022},\u0022hide\u0022:{\u0022event\u0022:\u0022mouseleave \u0022}}}","qtipDebug":"{\u0022leaveElement\u0022:0}","shadowbox":{"animate":true,"animateFade":true,"animSequence":"wh","auto_enable_all_images":1,"auto_gallery":1,"autoplayMovies":true,"continuous":false,"counterLimit":10,"counterType":"default","displayCounter":true,"displayNav":true,"enableKeys":true,"fadeDuration":0.34999999999999998,"handleOversize":"resize","handleUnsupported":"link","initialHeight":160,"initialWidth":320,"language":"en","modal":false,"overlayColor":"#000","overlayOpacity":0.80000000000000004,"resizeDuration":0.55000000000000004,"showMovieControls":true,"slideshowDelay":0,"viewportPadding":20,"useSizzle":false},"picture":{"mappings":[["Sidebar media mappings","sidebar_media_mappings"],["Floated media mappings","floated_media_mappings"],["Not Set","not_set"]],"label":"Image size (required)"},"extlink":{"extTarget":"_blank","extClass":"ext","extLabel":"(link is external)","extImgClass":0,"extIconPlacement":0,"extSubdomains":1,"extExclude":"(.\\.nih\\.gov.)|(.\\.cancer\\.gov.)|(.\\.genome\\.gov.)|(.\\.drugabuse\\.gov.)|(locatorplus\\.gov.)|(.\\.govdelivery\\.com.)|(.\\.hatchbuck\\.com.)|(nihseniorhealth\\.gov.)|(clinicaltrials\\.gov.)|(search\\.usa\\.gov\\\/search\\?affiliate\\=hip.)|(search\\.gov\\\/search\\?affiliate\\=hip.)|(drugabuse\\.gov.)|(medlineplus\\.gov.)|(collegedrinkingprevention\\.gov.)|(smokefree\\.gov.)|(arpa-h\\.gov.)|(nih\\.sharepoint\\.com)","extInclude":"(.\\.pagefreezer\\.com.)","extCssExclude":".media, .emergency-message, .slideshow-main, .bean-home-slideshow-2l-block","extCssExplicit":"","extAlert":"_blank","extAlertText":"You are leaving the NIH website.\r\n\r\nThis external link provides additional information that is consistent with the intended purpose of this site. NIH cannot attest to the accuracy of a non-federal site.\r\n\r\nLinking to a non-federal site does not constitute an endorsement by NIH or any of its employees of the sponsors or the information and products presented on the site. You will be subject to the destination site\u2019s privacy policy when you follow the link.","mailtoClass":"mailto","mailtoLabel":"(link sends e-mail)","extUseFontAwesome":0}});</script>
|
||
|
||
<script type="application/javascript" id="uws-snippet">
|
||
// Verint Unified WebSDK Integration Snippet v2.3
|
||
//
|
||
// Instructions: please embed this snippet directly into every page of your website template.
|
||
// For optimal performance, this should be embedded directly into the template, not referenced as
|
||
// an external file.
|
||
//
|
||
// DO NOT MODIFY BELOW THIS LINE *****************************************
|
||
(function () {
|
||
var cookies = document.cookie.split("; ").reduce(function (o, i) { var p = i.split("="); o[p[0]] = p[1]; return o; }, {});
|
||
var containerValue = cookies.uws_container_override && JSON.parse(decodeURIComponent(cookies.uws_container_override));
|
||
var config = {
|
||
moduleHost: "ucm-us.verint-cdn.com",
|
||
configHost: "ucm-us.verint-cdn.com",
|
||
siteKey: "nih-gov",
|
||
container: containerValue || "live",
|
||
loadTime: Date.now()
|
||
};
|
||
var readyCallbacks = []; window.uwsReady = function (callback) { readyCallbacks.push(callback); };
|
||
var sdkPath = "//" + [config.moduleHost, "files/sites", config.siteKey, config.container, "sdk.js"].join("/");
|
||
var script = document.createElement("script"); script.src = sdkPath; script.async = true; script.type = "module";
|
||
script.addEventListener("load", function () { window.unifiedSDK.start(config, readyCallbacks); });
|
||
document.head.appendChild(script);
|
||
})();
|
||
// DO NOT MODIFY ABOVE THIS LINE *****************************************
|
||
</script>
|
||
|
||
</head>
|
||
<body class="html not-front not-logged-in page-node page-node- page-node-41976 node-type-nih-news-release section-news-events">
|
||
<a href="#main-content" class="element-invisible element-focusable">Skip to main content</a>
|
||
<noscript aria-hidden="true"><iframe src="https://www.googletagmanager.com/ns.html?id=GTM-5CBCNW2" height="0" width="0" style="display:none;visibility:hidden"></iframe></noscript>
|
||
<div class="l-page has-one-sidebar has-sidebar-second">
|
||
|
||
<div class="l-page-content">
|
||
|
||
<header class="l-header" role="banner">
|
||
<div class="l-ribbon-wrapper">
|
||
<ul class="l-ribbon">
|
||
<li><span class="ribbon-hhs"></span><a href="https://www.hhs.gov">U.S. Department of Health & Human Services</a><span class="ribbon-right"></span></li>
|
||
</ul>
|
||
</div> <div class="l-banner-wrapper">
|
||
<div class="l-banner">
|
||
<div class="l-branding">
|
||
<a class="nih-logo icon-nih-logo" href="/" title="National Institutes of Health (NIH) - Turning Discovery into Health" rel="home"><img src="/sites/all/themes/nih/images/nih-logo-color.png" width="390" height="60" alt="National Institutes of Health (NIH) - Turning Discovery into Health" /></a>
|
||
</div>
|
||
<!-- DigitalGov Search -->
|
||
<form accept-charset="UTF-8" action="https://search.nih.gov/search" id="search" class="search-form site-search" method="get">
|
||
<div style="margin:0;padding:0;display:inline"><input name="utf8" type="hidden" value="✓" /></div>
|
||
<input id="affiliate" name="affiliate" type="hidden" value="nih" />
|
||
<label for="query" class="hide">Search the NIH Website</label>
|
||
<input autocomplete="on" class="usagov-search-autocomplete form-field form-field-site-search" id="query" name="query" type="text" placeholder="Search NIH" /><input type="submit" name="commit" value="Search" class="form-button form-button-site-search" />
|
||
</form>
|
||
<ul class="banner-utilities">
|
||
<li><a href="/virtual-tour">Virtual Tour</a></li>
|
||
<li><a href="https://ned.nih.gov/">Staff Directory</a></li>
|
||
<li><a href="https://salud.nih.gov">En Español</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</header>
|
||
|
||
<div class="l-navigation-wrapper">
|
||
<!-- ****************** SITE MENU ****************** -->
|
||
<h2 class="element-invisible">Site Menu</h2>
|
||
<nav class="l-menu-wrapper">
|
||
<ul class="l-menu">
|
||
<!-- ********* HOME TAB (Mobile view only) ********* -->
|
||
<li class="tab-wrapper tab-wrapper-home">
|
||
<div class="tab home"><a href="/"><span>Home</span></a></div>
|
||
</li>
|
||
<!-- ********* HEALTH INFO TAB ********* -->
|
||
<li class="tab-wrapper tab-wrapper-healthinfo tab-wrapper-left">
|
||
<div class="tab"><a href="/health-information"><span>Health Information</span></a></div>
|
||
<div class="megamenu">
|
||
<div class="megamenu-col megamenu-leftcol">
|
||
<ul class="sub-menu">
|
||
<li><a href="https://www.hhs.gov/programs/social-services/health-care-facilities/index.html">Health Care Providers & Facilities</a></li>
|
||
<li><a href="/health-information/health-info-lines">Health Info Lines</a></li>
|
||
<li><a href="https://www.healthcare.gov">HealthCare.gov</a></li>
|
||
<li><a href="/research-training/science-education">Science Education Resources</a></li>
|
||
<li><a href="/health-information/nih-clinical-research-trials-you">NIH Clinical Research Trials and You</a></li>
|
||
<li><a href="/institutes-nih/nih-office-director/office-communications-public-liaison/clear-communication/talking-your-doctor">Talking to Your Doctor</a></li>
|
||
<!--<li><a href="/institutes-nih/nih-office-director/office-communications-public-liaison/clear-communication/clear-health-nih" title="">Clear Health A–Z</a></li>-->
|
||
</ul>
|
||
<p class="more-wrapper"><a class="button gold" href="/health-information" title="More Health Information">More »</a></p>
|
||
</div>
|
||
<div class="megamenu-col megamenu-rightcol">
|
||
<form id="hipsearch" accept-charset="UTF-8" action="https://search.nih.gov/search" method="get" class="search-form">
|
||
<p class="subhead"><label for="query2">Search Health Topics</label></p>
|
||
<div class="input-wrapper">
|
||
<div style="margin:0;padding:0;display:inline"><input name="utf8" type="hidden" value="✓" /></div>
|
||
<input id="affiliate" name="affiliate" type="hidden" value="hip" />
|
||
<input type="hidden" name="dc" value="940" />
|
||
<input autocomplete="on" maxlength="50" class="usagov-search-autocomplete form-field form-field-search" id="query2" name="query" type="text" />
|
||
<input name="commit" type="submit" value="Go" id="searchbutton" class="form-button" />
|
||
</div>
|
||
</form>
|
||
<p class="subhead">Quick Links</p>
|
||
<ul class="sub-menu">
|
||
<li><a class="minibadge minibadge-medlineplus" href="https://medlineplus.gov/"><span class="minibadge-text">MedlinePlus Health Info</span></a></li>
|
||
<li><a class="minibadge minibadge-newsinhealth" href="https://newsinhealth.nih.gov/"><span class="minibadge-text">NIH News in Health</span></a></li>
|
||
<li><a class="minibadge minibadge-wellnesstoolkits" href="/health-information/your-healthiest-self-wellness-toolkits"><span class="minibadge-text">Wellness Toolkits</span></a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
<!-- ********* GRANTS TAB ********* -->
|
||
<li class="tab-wrapper tab-wrapper-grants tab-wrapper-left">
|
||
<div class="tab"><a href="/grants-funding"><span>Grants & Funding</span></a></div>
|
||
<div class="megamenu">
|
||
<div class="megamenu-col megamenu-leftcol">
|
||
<ul>
|
||
<li><a href="https://grants.nih.gov">Grants Home Page</a></li>
|
||
<li><a href="https://grants.nih.gov/funding/index.htm">Find Funding</a></li>
|
||
<li><a href="https://grants.nih.gov/grants/how-to-apply-application-guide/due-dates-and-submission-policies/due-dates.htm">Due Dates</a></li>
|
||
<li><a href="https://grants.nih.gov/grants/how-to-apply-application-guide.html">How to Apply</a></li>
|
||
<li><a href="https://grants.nih.gov/grants/about_grants.htm">About Grants</a></li>
|
||
<li><a href="https://grants.nih.gov/policy/index.htm">Policy & Compliance</a></li>
|
||
<li><a href="https://nexus.od.nih.gov/all/">Grants News/Blog</a></li>
|
||
<li><a href="https://grants.nih.gov/funding/contracts.htm">Contracts</a></li>
|
||
<li><a href="https://www.lrp.nih.gov/">Loan Repayment</a></li>
|
||
</ul>
|
||
<p class="more-wrapper"><a class="button gold" href="/grants-funding" title="More Grants & Funding Information">More »</a></p>
|
||
</div>
|
||
<div class="megamenu-col megamenu-rightcol">
|
||
<p class="subhead">Quick Links</p>
|
||
<ul>
|
||
<li><a class="minibadge minibadge-report" href="https://report.nih.gov/"><span class="minibadge-text">RePORT</span></a></li>
|
||
<li><a class="minibadge minibadge-era" href="https://commons.era.nih.gov/commons/"><span class="minibadge-text">eRA Commons</span></a></li>
|
||
<li><a class="minibadge minibadge-commonfund" href="https://commonfund.nih.gov/"><span class="minibadge-text">NIH Common Fund</span></a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
<!-- ********* NEWS TAB ********* -->
|
||
<li class="tab-wrapper tab-wrapper-news tab-wrapper-left">
|
||
<div class="tab"><a href="/news-events"><span>News & Events</span></a></div>
|
||
<div class="megamenu">
|
||
<div class="megamenu-col megamenu-leftcol">
|
||
<ul>
|
||
<li><a href="/news-events/news-releases">News Releases</a></li>
|
||
<li><a href="/news-events/digital-media-kits">Digital Media Kits</a></li>
|
||
<li><a href="/news-events/media-resources">Media Resources</a></li>
|
||
<li><a href="/news-events/media-contacts">Media Contacts</a></li>
|
||
<li><a href="/news-events/images-b-roll">Images and B-roll</a></li>
|
||
<li><a href="/news-events/events">Events</a></li>
|
||
<li><a href="/news-events/social-media-outreach">Social Media</a></li>
|
||
</ul>
|
||
<p class="more-wrapper"><a class="button gold" href="/news-events" title="More News & Events">More »</a></p>
|
||
</div>
|
||
<div class="megamenu-col megamenu-rightcol">
|
||
<p class="subhead">Quick Links</p>
|
||
<ul>
|
||
<li><a class="minibadge minibadge-newsinhealth" href="https://newsinhealth.nih.gov/"><span class="minibadge-text">NIH News in Health</span></a></li>
|
||
<li><a class="minibadge minibadge-researchmatters" href="/news-events/nih-research-matters"><span class="minibadge-text">NIH Research Matters</span></a></li>
|
||
<li><a class="minibadge minibadge-nihrecord" href="https://nihrecord.nih.gov/"><span class="minibadge-text">NIH Record</span></a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
<!-- ********* RESEARCH TAB ********* -->
|
||
<li class="tab-wrapper tab-wrapper-research tab-wrapper-right">
|
||
<div class="tab"><a href="/research-training"><span>Research & Training</span></a></div>
|
||
<div class="megamenu">
|
||
<div class="megamenu-col megamenu-leftcol">
|
||
<ul>
|
||
<li><a href="/research-training/medical-research-initiatives">Medical Research Initiatives</a></li>
|
||
<li><a href="/research-training/science-highlights">Science Highlights</a></li>
|
||
<li><a href="/research-training/science-education">Science Education</a></li>
|
||
<li><a href="/research-training/research-nih-labs-clinics">Research in NIH Labs & Clinics</a></li>
|
||
<li><a href="/research-training/training-opportunities">Training Opportunities</a></li>
|
||
<li><a href="/research-training/library-resources">Library Resources</a></li>
|
||
<li><a href="/research-training/research-resources">Research Resources</a></li>
|
||
<li><a href="/research-training/clinical-research-resources">Clinical Research Resources</a></li>
|
||
<li><a href="/research-training/safety-regulation-guidance">Safety, Regulation and Guidance</a></li>
|
||
</ul>
|
||
<p class="more-wrapper"><a class="button gold" href="/research-training" title="More Research & Training">More »</a></p>
|
||
</div>
|
||
<div class="megamenu-col megamenu-rightcol">
|
||
<p class="subhead">Quick Links</p>
|
||
<ul>
|
||
<li><a class="minibadge minibadge-pubmed" href="https://pubmed.ncbi.nlm.nih.gov"><span class="minibadge-text">PubMed</span></a></li>
|
||
<li><a class="minibadge minibadge-stemcell" href="https://stemcells.nih.gov"><span class="minibadge-text">Stem Cell Information</span></a></li>
|
||
<li><a class="minibadge minibadge-oppnet" href="https://oppnet.nih.gov"><span class="minibadge-text">OppNet</span></a></li>
|
||
<li><a class="minibadge minibadge-nidb" href="https://intramural.nih.gov"><span class="minibadge-text">NIDB</span></a></li>
|
||
<li><a class="minibadge minibadge-nihblueprint" href="https://neuroscienceblueprint.nih.gov"><span class="minibadge-text">NIH Blueprint for Neuroscience Research</span></a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
<!-- ********* INSTITUTES TAB ********* -->
|
||
<li class="tab-wrapper tab-wrapper-institutes tab-wrapper-right">
|
||
<div class="tab"><a href="/institutes-nih"><span>Institutes at NIH</span></a></div>
|
||
<div class="megamenu">
|
||
<div class="megamenu-col megamenu-leftcol">
|
||
<ul>
|
||
<li><a href="/institutes-nih/list-institutes-centers">List of Institutes and Centers</a></li>
|
||
<li><a href="/institutes-nih/nih-office-director">NIH Office of the Director</a></li>
|
||
<li><a href="/institutes-nih/directors-nih-institutes-centers">Directors of NIH Institutes and Centers</a></li>
|
||
<li><a href="/institutes-nih/nih-institute-center-contact-information">NIH Institute and Center Contact Information</a></li>
|
||
</ul>
|
||
<p class="more-wrapper"><a class="button gold" href="/institutes-nih" title="More About the Institutes at NIH">More »</a></p>
|
||
</div>
|
||
<div class="megamenu-col megamenu-rightcol">
|
||
<p class="subhead">Quick Links</p>
|
||
<ul class="ic-acronymn-list">
|
||
<li><a href="https://www.cancer.gov" title="National Cancer Institute">NCI</a></li>
|
||
<li><a href="https://nei.nih.gov" title="National Eye Institute">NEI</a></li>
|
||
<li><a href="https://www.nhlbi.nih.gov" title="National Heart, Lung, and Blood Institute">NHLBI</a></li>
|
||
<li><a href="https://www.genome.gov" title="National Human Genome Research Institute">NHGRI</a></li>
|
||
<li><a href="https://www.nia.nih.gov" title="National Institute on Aging">NIA</a></li>
|
||
<li><a href="https://www.niaaa.nih.gov" title="National Institute on Alcohol Abuse and Alcoholism">NIAAA</a></li>
|
||
<li><a href="https://www.niaid.nih.gov" title="National Institute of Allergy and Infectious Diseases">NIAID</a></li>
|
||
<li><a href="https://www.niams.nih.gov" title="National Institute of Arthritis and Musculoskeletal and Skin Diseases">NIAMS</a></li>
|
||
<li><a href="https://www.nibib.nih.gov" title="National Institute of Biomedical Imaging and Bioengineering">NIBIB</a></li>
|
||
<li><a href="https://www.nichd.nih.gov" title="Eunice Kennedy Shriver National Institute of Child Health and Human Development">NICHD</a></li>
|
||
<li><a href="https://www.nidcd.nih.gov" title="National Institute on Deafness and Other Communication Disorders">NIDCD</a></li>
|
||
<li><a href="https://www.nidcr.nih.gov" title="National Institute of Dental and Craniofacial Research">NIDCR</a></li>
|
||
<li><a href="https://www.niddk.nih.gov" title="National Institute of Diabetes and Digestive and Kidney Diseases">NIDDK</a></li>
|
||
<li><a href="https://nida.nih.gov" title="National Institute on Drug Abuse">NIDA</a></li>
|
||
<li><a href="https://www.niehs.nih.gov" title="National Institute of Environmental Health Sciences">NIEHS</a></li>
|
||
<li><a href="https://www.nigms.nih.gov" title="National Institute of General Medical Sciences">NIGMS</a></li>
|
||
<li><a href="https://www.nimh.nih.gov" title="National Institute of Mental Health">NIMH</a></li>
|
||
<li><a href="https://www.nimhd.nih.gov" title="National Institute on Minority Health and Health Disparities">NIMHD</a></li>
|
||
<li><a href="https://www.ninds.nih.gov" title="National Institute of Neurological Disorders and Stroke">NINDS</a></li>
|
||
<li><a href="https://www.ninr.nih.gov" title="National Institute of Nursing Research">NINR</a></li>
|
||
<li><a href="https://www.nlm.nih.gov" title="National Library of Medicine">NLM</a></li>
|
||
<li><a href="https://www.cc.nih.gov" title="NIH Clinical Center">CC</a></li>
|
||
<li><a href="https://www.cit.nih.gov" title="Center for Information Technology">CIT</a></li>
|
||
<li><a href="https://www.csr.nih.gov" title="Center for Scientific Review">CSR</a></li>
|
||
<li><a href="https://www.fic.nih.gov" title="Fogarty International Center">FIC</a></li>
|
||
<li><a href="https://ncats.nih.gov" title="National Center for Advancing Translational Sciences">NCATS</a></li>
|
||
<li><a href="https://nccih.nih.gov" title="National Center for Complementary and Integrative Health">NCCIH</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
<!-- ********* ABOUT TAB ********* -->
|
||
<li class="tab-wrapper tab-wrapper-about tab-wrapper-right">
|
||
<div class="tab"><a href="/about-nih"><span>About NIH</span></a></div>
|
||
<div class="megamenu">
|
||
<div class="megamenu-col megamenu-leftcol">
|
||
<ul>
|
||
<li><a href="/about-nih/who-we-are">Who We Are</a></li>
|
||
<li><a href="/about-nih/what-we-do">What We Do</a></li>
|
||
<li><a href="https://hr.nih.gov/jobs">Jobs at NIH</a></li>
|
||
<li><a href="/about-nih/visitor-information">Visitor Information</a></li>
|
||
<li><a href="/about-nih/frequently-asked-questions">Frequently Asked Questions</a></li>
|
||
<li><a href="/about-nih/contact-us">Contact Us</a></li>
|
||
<!--<li><a href="/about-nih/explore-nih">Explore NIH</a></li>-->
|
||
</ul>
|
||
<p class="more-wrapper"><a class="button gold" href="/about-nih" title="More About NIH">More »</a></p>
|
||
</div>
|
||
<div class="megamenu-col megamenu-rightcol">
|
||
<p class="subhead">Quick Links</p>
|
||
<ul>
|
||
<li><a href="/about-nih/who-we-are/nih-director">The NIH Director</a></li>
|
||
<li><a href="/virtual-tour">Take the Virtual Tour</a></li>
|
||
<li><a href="/about-nih/what-we-do/nih-turning-discovery-into-health">NIH…Turning Discovery Into Health<sup>®</sup></a></li>
|
||
<li><a href="/about-nih/what-we-do/impact-nih-research">Impact of NIH Research</a></li>
|
||
<li><a href="/about-nih/what-we-do/science-health-public-trust">Science, Health, and Public Trust</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
</ul>
|
||
<div class="tab-bkgnd"></div><!-- For pixel rounding issue -->
|
||
</nav>
|
||
<!-- ****************** END SITE MENU ****************** -->
|
||
</div>
|
||
|
||
<div class="l-main-wrapper">
|
||
<div class="l-main" id="page-content">
|
||
<h2 class="element-invisible">You are here</h2><div class="breadcrumb"><a href="/">Home</a> » <a href="/news-events">News & Events</a> » <a href="/news-events/news-releases">News Releases</a></div> <div class="l-region l-region--section-header">
|
||
<div id="block-block-96" class="block block--block sectionheader block--block-96" id="block-block-96" class="block block--block sectionheader block--block-96">
|
||
|
||
|
||
<div class="content" class="block__content">
|
||
<h2><a href="/news-events/news-releases">News Releases</a></h2> </div>
|
||
</div>
|
||
</div>
|
||
<div class="l-content-wrapper">
|
||
<div class="l-content" role="main">
|
||
<a id="main-content"></a>
|
||
<div about="/news-events/news-releases/nih-researchers-discover-new-autoinflammatory-disease-uncover-its-biological-cause" typeof="sioc:Item foaf:Document" class="ds-1col node node--nih-news-release news-release view-mode-full node--full node--nih-news-release--full clearfix">
|
||
|
||
|
||
<p class="publishdate"><span class="tag-term">News Release</span></p><p class="publishdate"><span property="dc:date" datatype="xsd:dateTime" content="2019-12-23T00:15:00-05:00" class="date-display-single">Monday, December 23, 2019</span></p><h1>NIH researchers discover new autoinflammatory disease and uncover its biological cause</h1><p class="subtitle">
|
||
Mutations in the RIPK1 gene responsible for CRIA syndrome.</p><p>Over the last 20 years, three families have been unsuspectingly linked by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results were <a href="https://www.nature.com/articles/s41586-019-1828-5">published</a> in the journal <em>Nature</em>.</p>
|
||
|
||
<p>NHGRI scientific director Daniel Kastner, M.D., Ph.D., a pioneer in the field of autoinflammatory diseases, and his team discovered CRIA, which has symptoms including fevers, swollen lymph nodes, severe abdominal pain, gastrointestinal problems, headaches and, in some cases, abnormally enlarged spleen and liver.</p>
|
||
|
||
<p>The disorder has characteristics typical of an autoinflammatory disease, where the immune system appears to be activated without any apparent trigger. Although the condition is not life-threatening, patients have persistent fever and swollen lymph nodes from childhood to old age, as well as other symptoms that can lead to lifelong pain and disability.</p>
|
||
|
||
<p>When confronted by patients’ symptoms, who were first seen at the NIH Clinical Center, researchers looked for infections and cancer as the cause. After those were ruled out, they sought answers in the genome, a person’s complete set of DNA. Kastner and his team sequenced gene regions across the genome and discovered only one gene — RIPK1 — to be consistently different in all patients.</p>
|
||
|
||
<p>Researchers identified a specific type of variation in the patients: a single DNA letter at a specific location incorrectly changed. This change can alter the amino acid added to the encoded protein. These are called "missense" mutations.</p>
|
||
|
||
<p>Remarkably, each of the three families had its own unique missense mutation affecting the very same DNA letter in the RIPK1 gene. Each affected person had one mutant and one normal copy of the gene, while the unaffected family members had two normal copies of the gene.</p>
|
||
|
||
<p>The researchers also looked at 554 people with sporadic unexplained fever, swollen glands and other symptoms or diseases, and then at over a quarter million people from public sequence databases to see if they encountered the same RIPK1 mutations. When they did not find such mutations elsewhere, it was clear that they were onto something new.</p>
|
||
|
||
<p>"It was as if lightning had struck three times in the same place," said Kastner, who led the NHGRI team. "This discovery underscores the tremendous power of combining astute clinical observation, state-of-the-art DNA sequencing, and the sharing of sequence data in large publicly-accessible databases. We live in a very special time."</p>
|
||
|
||
<p>The RIPK1 gene encodes for the RIPK1 protein, which is involved in the body’s response to inflammation and programmed cell death. To make sure that RIPK1 action does not initiate inflammation and cell death in all cells, another protein “cuts” the RIPK1 protein at a specific location in the protein sequence. The research team noticed that all the mutations in CRIA patients occur at the location where RIPK1 usually gets cut, resulting in an uncuttable, seemingly indestructible RIPK1 protein.</p>
|
||
|
||
<p>This suggests that cutting RIPK1, thereby disarming it, is crucial to controlling cell death and inflammation. Recognizing this cause-effect relationship, Kastner’s team named the resulting disease cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome.</p>
|
||
|
||
<p>Although the researchers made the connection between CRIA syndrome and RIPK1 mutations, they still needed to understand the molecular mechanisms involved in the disease. To do this, Kastner and his team collaborated with Najoua Laloui, Ph.D., and John Silke, Ph.D., at the Walter and Eliza Hall Institute in Australia, who made specialized mouse models with similar RIPK1 mutations as seen in CRIA patients.</p>
|
||
|
||
<p>The Australian team discovered that mouse embryos with two mutant copies of RIPK1 (and no normal copy) did not survive in the uterus due to excessive cell death signals, which further confirmed the importance of cutting RIPK1 to limit its function in normal cells. However, mice bearing one mutant copy of RIPK1 and one normal copy, as is the case for CRIA patients, were mostly normal but had heightened responses to a variety of inflammatory stimuli, which the researchers think may suggest a possible mechanism for how the human disease occurs.</p>
|
||
|
||
<p>Kastner and his team worked to find a treatment for CRIA syndrome. Seven patients with the condition were given therapies that are known to reduce inflammation. While drugs such as etanercept and anakinra, which are routinely used to treat autoinflammatory and chronic diseases such as rheumatoid arthritis, had little effect on the patients, one biological drug called tocilizumab did. Tocilizumab, a drug that suppresses the immune system, reduced the severity and frequency of CRIA syndrome symptoms in five out of seven patients in some cases with life-changing effects.</p>
|
||
|
||
<p>Hirotsugu Oda, M.D., Ph.D., a post-doctoral researcher in Kastner’s laboratory and co-first author of the paper, said: "As a physician-scientist, the most thrilling experience to me was to hear the mother of a CRIA patient say that her son was a completely different, healthy child after the tocilizumab treatment. Through the genetic diagnosis, we were able to contribute to the treatment of a few patients. This is, after all, the ultimate goal."</p>
|
||
|
||
<p>Researchers are now trying to understand the detailed molecular mechanism that enables tocilizumab to treat CRIA. Specific inhibitors of RIPK1, which are under development, may also hold promise in both CRIA and other seemingly intractable inflammatory conditions.</p>
|
||
|
||
<p>The study included collaborations with the following NIH institutions: National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH Clinical Center, National Heart, Lung, and Blood Institute, National Institute of Allergy and Infectious Diseases and NIH Intramural Sequencing Center. </p>
|
||
|
||
<p><strong>About the National Human Genome Research Institute (NHGRI)</strong> is one of the 27 institutes and centers at the NIH, an agency of the Department of Health and Human Services. The NHGRI Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: <a href="https://www.genome.gov/">www.genome.gov</a>.</p><p><strong>About the National Institutes of Health (NIH):</strong>
|
||
NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit <a href="/">www.nih.gov</a>.</p>
|
||
|
||
<p class="slogan"><em>NIH…Turning Discovery Into Health<sup>®</sup></em></p><p
|
||
class='hashtags'>###</p>
|
||
|
||
|
||
</div>
|
||
|
||
<div class="lastupdated">
|
||
</div> </div>
|
||
<aside class="l-region l-region--sidebar-second masonry-container">
|
||
<div id="block-ds-extras-nih-news-release-page-ds" class="block block--ds-extras block--ds-extras-nih-news-release-page-ds" id="block-ds-extras-nih-news-release-page-ds" class="block block--ds-extras block--ds-extras-nih-news-release-page-ds">
|
||
|
||
|
||
<div class="content" class="block__content">
|
||
<div class="box"><h3 class="label-above">Institute/Center</h3><p><a href="https://www.genome.gov/">National Human Genome Research Institute (NHGRI) </a></p></div><div class="box"><h3 class="label-above">Contact</h3><div class="paragraph">
|
||
<div class="field--contact-name">
|
||
<a href="mailto:prabarna.ganguly@nih.gov">Prabarna Ganguly, Ph.D.</a> </div>
|
||
|
||
<div class="field--contact-number">
|
||
301-480-5289 </div>
|
||
</div></div > </div>
|
||
</div>
|
||
<div id="block-bean-news-releases-connect-with-us" class="block block--bean box block--bean-news-releases-connect-with-us" id="block-bean-news-releases-connect-with-us" class="block block--bean box block--bean-news-releases-connect-with-us">
|
||
|
||
<h3 class="block__title">Connect with Us</h3>
|
||
|
||
<div class="content" class="block__content">
|
||
<div about="/block/news-releases---connect-with-us" class="ds-1col entity entity-bean bean-basic-block view-mode-default clearfix">
|
||
|
||
|
||
<ul class="icon-list">
|
||
<li><a class="icon-link email-monochrome" href="https://service.govdelivery.com/accounts/USNIH/subscriber/new?topic_id=USNIH_1" onclick="window.open(this.href,'popup','width=725,height=500,left=25,top=25,location=no,resizable=yes,scrollbars=yes,status=yes');return false;" target="_blank" title="Subscribe."><span class="icon"></span>Subscribe to news releases</a></li>
|
||
<li><a class="icon-link rss-monochrome" href="/news-releases/feed.xml"><span class="icon"></span>RSS Feed</a></li>
|
||
</ul></div>
|
||
|
||
</div>
|
||
</div>
|
||
</aside>
|
||
</div>
|
||
<div class="l-connect-wrapper">
|
||
<div class="l-connect">
|
||
<h2 class="element-invisible">Connect with Us</h2>
|
||
<ul>
|
||
<li><a class="contactus-monochrome" href="/about-nih/contact-us"><span class="icon"></span>Contact Us</a></li>
|
||
<li><a class="twitter-monochrome" href="https://twitter.com/NIH"><span class="icon"></span>X</a></li>
|
||
<li><a class="facebook-monochrome" href="https://www.facebook.com/nih.gov"><span class="icon"></span>Facebook</a></li>
|
||
<li><a class="instagram-monochrome" href="https://www.instagram.com/nihgov/"><span class="icon"></span>Instagram</a></li>
|
||
<li><a class="youtube-monochrome" href="https://www.youtube.com/user/nihod"><span class="icon"></span>YouTube</a></li>
|
||
<li><a class="flickr-monochrome" href="https://www.flickr.com/photos/nihgov/"><span class="icon"></span>Flickr</a></li>
|
||
<li><a class="social-monochrome" href="/news-events/social-media-outreach"><span class="icon"></span>More Social Media from NIH</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="l-footer-wrapper">
|
||
<footer class="l-footer" role="contentinfo">
|
||
<h2 class="element-invisible">Footer</h2>
|
||
<ul>
|
||
<li><a href="/">NIH Home</a></li>
|
||
<li><a href="/virtual-tour">Virtual Tour</a></li>
|
||
<li><a href="https://salud.nih.gov">En Español</a></li>
|
||
<li><a href="/about-nih/visitor-information">Visitor Information</a></li>
|
||
<li><a href="/about-nih/frequently-asked-questions">Frequently Asked Questions</a></li>
|
||
<li><a href="/privacy-policy">Privacy Policy</a></li>
|
||
<li><a href="/disclaimers">Disclaimers</a></li>
|
||
<li><a href="/accessibility">Accessibility</a></li>
|
||
<li><a href="/nih-website-archives">NIH Website Archives</a></li>
|
||
</ul>
|
||
<ul>
|
||
<li><a href="/nondiscrimination-notice">Nondiscrimination Notice</a></li>
|
||
<li><a href="/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office">Freedom of Information Act</a></li>
|
||
<li><a href="https://www.edi.nih.gov/no-fear-act">No Fear Act</a></li>
|
||
<li><a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html">HHS Vulnerability Disclosure</a></li>
|
||
<li><a href="https://oig.hhs.gov">Office of Inspector General</a></li>
|
||
<li><a class="lastTab" href="https://www.usa.gov/">USA.gov</a></li>
|
||
</ul>
|
||
<p>NIH…Turning Discovery Into Health<sup>®</sup></p>
|
||
<p>National Institutes of Health, 9000 Rockville Pike, Bethesda, Maryland 20892</p>
|
||
<p><a href="https://www.hhs.gov">U.S. Department of Health and Human Services</a></p>
|
||
</footer>
|
||
</div>
|
||
|
||
<div class="back-to-top"><a href="#"><span class="icon-arrow-up"></span><span class="text">Back to Top</span></a></div>
|
||
|
||
</div>
|
||
|
||
</div>
|
||
<script src="https://www.nih.gov/sites/default/files/js/js_7Ukqb3ierdBEL0eowfOKzTkNu-Le97OPm-UqTS5NENU.js"></script>
|
||
<script src="https://www.nih.gov/sites/default/files/js/js_E9yUYWK8EMydR0HMIp2PahVxPAClXyH0Cnh782A15UM.js"></script>
|
||
</body>
|
||
</html>
|
||
|