710 lines
37 KiB
HTML
710 lines
37 KiB
HTML
|
||
<!DOCTYPE html>
|
||
<html lang="en" id="genetic_condition" class="nojs us" data-root="https://medlineplus.gov/">
|
||
|
||
<head>
|
||
|
||
<meta charset="utf-8" />
|
||
<meta http-equiv="X-UA-Compatible" content="IE=edge,chrome=1" />
|
||
<meta http-equiv="window-target" content="_top" />
|
||
<meta http-equiv="Content-Type" content="text/html; charset=UTF-8" />
|
||
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
||
|
||
|
||
|
||
|
||
|
||
<link rel="canonical" href="https://medlineplus.gov/genetics/condition/complement-component-2-deficiency/" />
|
||
|
||
|
||
|
||
|
||
<link href="https://medlineplus.gov/genetics/condition/complement-component-2-deficiency/" hreflang="x-default" rel="alternate">
|
||
|
||
|
||
|
||
|
||
<meta name="ac-dictionary" content="medlineplus-ac-dictionary" />
|
||
|
||
<meta name="description" content="Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Explore symptoms, inheritance, genetics of this condition." />
|
||
|
||
|
||
|
||
<link rel="shortcut icon" href="https://medlineplus.gov/images/favicon.ico" type="image/x-icon" />
|
||
<link rel="apple-touch-icon" href="https://medlineplus.gov/images/touch-icon.png" />
|
||
|
||
|
||
<meta property="fb:app_id" content="1042245625821448" />
|
||
|
||
|
||
|
||
<meta property="og:title" content="Complement component 2 deficiency: MedlinePlus Genetics" />
|
||
<meta property="og:url" content="https://medlineplus.gov/genetics/condition/complement-component-2-deficiency/" />
|
||
|
||
|
||
|
||
<meta property="og:image" content="https://medlineplus.gov/images/GeneticCondition_Share.jpg" />
|
||
|
||
|
||
|
||
<meta property="og:description" content="Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Explore symptoms, inheritance, genetics of this condition." />
|
||
|
||
|
||
<meta name="twitter:card" content="summary_large_image" />
|
||
<meta name="twitter:site" content="@medlineplus" />
|
||
<meta name="twitter:creator" content="@medlineplus" />
|
||
<meta name="twitter:title" content="Complement component 2 deficiency: MedlinePlus Genetics" />
|
||
<meta name="twitter:description" content="Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Explore symptoms, inheritance, genetics of this condition." />
|
||
<meta name="twitter:image" content="https://medlineplus.gov/images/GeneticCondition_Share.jpg" />
|
||
|
||
<meta name="twitter:image:alt" content=""/>
|
||
<meta property="og:image:alt" content="" />
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<title>Complement component 2 deficiency: MedlinePlus Genetics</title>
|
||
|
||
<link rel="stylesheet" href="https://medlineplus.gov/css/common_new.css?1738956967401" />
|
||
<!--[if IE 8]> <link rel="stylesheet" href="https://medlineplus.gov/css/ie8/common.css"> <![endif]-->
|
||
<link rel="stylesheet" href="https://medlineplus.gov/uswds/css/uswds_styles.css" />
|
||
|
||
|
||
|
||
|
||
|
||
<script type="text/javascript">document.getElementsByTagName('html')[0].className = document.getElementsByTagName('html')[0].className.replace( /(?:^|\s)nojs(?!\S)/g , '').trim();</script>
|
||
<script src="https://medlineplus.gov/uswds/js/uswds-init.min.js" type="text/javascript"></script>
|
||
|
||
|
||
|
||
|
||
<script>(function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':
|
||
new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],
|
||
j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src=
|
||
'https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);
|
||
})(window,document,'script','dataLayer','GTM-MMVM77');</script>
|
||
</head>
|
||
|
||
<body>
|
||
|
||
<noscript><iframe src="https://www.googletagmanager.com/ns.html?id=GTM-MMVM77"
|
||
height="0" width="0" style="display:none;visibility:hidden" title="googletagmanager"></iframe></noscript>
|
||
|
||
|
||
|
||
<a name="top" id="top"></a>
|
||
<a class="hide-offscreen" href="#start">Skip navigation</a>
|
||
|
||
|
||
|
||
<section
|
||
class="usa-banner"
|
||
aria-label="Official website of the United States government"
|
||
>
|
||
<div class="usa-accordion">
|
||
<header class="usa-banner__header">
|
||
<div class="usa-banner__inner">
|
||
<div class="grid-col-auto">
|
||
<img
|
||
aria-hidden="true"
|
||
class="usa-banner__header-flag"
|
||
src="https://medlineplus.gov/uswds/img/us_flag_small.png"
|
||
alt=""
|
||
/>
|
||
</div>
|
||
<div class="grid-col-fill tablet:grid-col-auto" aria-hidden="true">
|
||
<p class="usa-banner__header-text">
|
||
An official website of the United States government
|
||
</p>
|
||
<p class="usa-banner__header-action">Here’s how you know</p>
|
||
</div>
|
||
<button
|
||
type="button"
|
||
class="usa-accordion__button usa-banner__button"
|
||
aria-expanded="false"
|
||
aria-controls="gov-banner-default-default"
|
||
>
|
||
<span class="usa-banner__button-text">Here’s how you know</span>
|
||
</button>
|
||
</div>
|
||
</header>
|
||
<div
|
||
class="usa-banner__content usa-accordion__content"
|
||
id="gov-banner-default-default"
|
||
>
|
||
<div class="grid-row grid-gap-lg">
|
||
<div class="usa-banner__guidance tablet:grid-col-6">
|
||
<img
|
||
class="usa-banner__icon usa-media-block__img"
|
||
src="https://medlineplus.gov/uswds/img/icon-dot-gov.svg"
|
||
role="img"
|
||
alt=""
|
||
aria-hidden="true"
|
||
/>
|
||
<div class="usa-media-block__body">
|
||
<p>
|
||
<strong>Official websites use .gov</strong><br />A
|
||
<strong>.gov</strong> website belongs to an official government
|
||
organization in the United States.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
<div class="usa-banner__guidance tablet:grid-col-6">
|
||
<img
|
||
class="usa-banner__icon usa-media-block__img"
|
||
src="https://medlineplus.gov/uswds/img/icon-https.svg"
|
||
role="img"
|
||
alt=""
|
||
aria-hidden="true"
|
||
/>
|
||
<div class="usa-media-block__body">
|
||
<p>
|
||
<strong>Secure .gov websites use HTTPS</strong><br />A
|
||
<strong>lock</strong> (
|
||
<span class="icon-lock"
|
||
><svg
|
||
xmlns="http://www.w3.org/2000/svg"
|
||
width="52"
|
||
height="64"
|
||
viewBox="0 0 52 64"
|
||
class="usa-banner__lock-image"
|
||
role="img"
|
||
aria-labelledby="banner-lock-description-default"
|
||
focusable="false"
|
||
>
|
||
<title id="banner-lock-title-default">Lock</title>
|
||
<desc id="banner-lock-description-default">Locked padlock icon</desc>
|
||
<path
|
||
fill="#000000"
|
||
fill-rule="evenodd"
|
||
d="M26 0c10.493 0 19 8.507 19 19v9h3a4 4 0 0 1 4 4v28a4 4 0 0 1-4 4H4a4 4 0 0 1-4-4V32a4 4 0 0 1 4-4h3v-9C7 8.507 15.507 0 26 0zm0 8c-5.979 0-10.843 4.77-10.996 10.712L15 19v9h22v-9c0-6.075-4.925-11-11-11z"
|
||
/>
|
||
</svg> </span
|
||
>) or <strong>https://</strong> means you’ve safely connected to
|
||
the .gov website. Share sensitive information only on official,
|
||
secure websites.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
|
||
|
||
<div id="mplus-wrap">
|
||
<header>
|
||
<div id="mplus-header">
|
||
|
||
<div id="mplus-orgs">
|
||
<a href="https://www.nih.gov/" class="nih-org" target="_blank" title="National Institutes of Health">
|
||
<img class="nihlogo" src="https://medlineplus.gov/images/nihlogo.png" alt="National Institutes of Health"/>
|
||
</a><a href="https://www.nlm.nih.gov/" target="_blank"> National Library of Medicine</a>
|
||
</div>
|
||
|
||
|
||
<div id="mplus-logo" class="years-25">
|
||
<a href="https://medlineplus.gov/">
|
||
<img alt="MedlinePlus Trusted Health Information for You" title="MedlinePlus Trusted Health Information for You" src="https://medlineplus.gov/images/m_logo_25.png"/>
|
||
</a>
|
||
</div>
|
||
|
||
|
||
<div id="mplus-nav">
|
||
|
||
<div aria-live="polite" class="sm-live-area hide-offscreen"></div>
|
||
<button id="sm-menu-btn" class="navmenu-btn" title="Menu" role="button" aria-controls="mplus-menu-list" type="submit">Menu<span class="icon icon-nav-menu"></span></button>
|
||
<ul id="mplus-menu-list" class="nav-list">
|
||
<li><a href="https://medlineplus.gov/healthtopics.html">Health Topics</a></li>
|
||
<li><a href="https://medlineplus.gov/druginformation.html">Drugs & Supplements</a></li>
|
||
<li><a href="https://medlineplus.gov/genetics/">Genetics</a></li>
|
||
<li><a href="https://medlineplus.gov/lab-tests/">Medical Tests</a></li>
|
||
<li><a href="https://medlineplus.gov/encyclopedia.html">Medical Encyclopedia</a></li>
|
||
<li><a href="https://medlineplus.gov/about/">About MedlinePlus</a></li>
|
||
</ul><button id="sm-search-btn" class="navmenu-btn" title="Search" role="button" aria-controls="mplus-search" type="submit"><span class="hide-offscreen"></span>Search<span class="icon icon-nav-search"></span></button>
|
||
|
||
<div class="top-1">
|
||
|
||
<form id="mplus-search" method="get" action="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta" title="Search MedlinePlus" target="_self">
|
||
|
||
<input type="hidden" name="v:project" value="medlineplus"/>
|
||
<input type="hidden" name="v:sources" value="medlineplus-bundle"/>
|
||
|
||
<div class="form-box text-combo">
|
||
<div class="form-area"><label class="hide-offscreen" for="searchtext_primary">Search MedlinePlus</label>
|
||
<input id="searchtext_primary" class="form-text" type="text" placeholder="Search MedlinePlus" alt="#Site Search input" title="Site Search input" maxlength="400" size="40" name="query" autocomplete="off" role="textbox" aria-autocomplete="list" aria-haspopup="true"/>
|
||
</div>
|
||
<div class="button-area">
|
||
<button class="form-btn" title="Search MedlinePlus" alt="Search MedlinePlus" type="submit">GO</button>
|
||
</div>
|
||
</div>
|
||
</form>
|
||
|
||
<div class="secondarynav">
|
||
<ul class="nav-list">
|
||
<li><a href="https://medlineplus.gov/about/"><span>About MedlinePlus</span></a></li>
|
||
<li><a href="https://medlineplus.gov/whatsnew/">What's New</a></li>
|
||
<li><a href="https://medlineplus.gov/sitemap.html"><span>Site Map</span></a></li>
|
||
|
||
|
||
<li><a href="https://support.nlm.nih.gov/knowledgebase/category/?id=CAT-01231&category=medlineplus&from=https%3A//medlineplus.gov/genetics/condition/complement-component-2-deficiency/" target="_blank"><span>Customer Support</span></a></li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
</div>
|
||
<div id="mplus-nav-bar">
|
||
<ul class="nav-list">
|
||
<li><a href="https://medlineplus.gov/healthtopics.html">Health Topics</a></li><li><a href="https://medlineplus.gov/druginformation.html">Drugs & Supplements</a></li><li><a href="https://medlineplus.gov/genetics/">Genetics</a></li><li><a href="https://medlineplus.gov/lab-tests/">Medical Tests</a></li><li><a href="https://medlineplus.gov/encyclopedia.html">Medical Encyclopedia</a></li>
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
</header>
|
||
|
||
<div id="mplus-content">
|
||
|
||
<div id="breadcrumbs">
|
||
<div itemprop="breadcrumb" itemscope="" itemtype="http://schema.org/BreadcrumbList">
|
||
<span class="hide-offscreen">You Are Here:</span>
|
||
<div itemscope itemprop="itemListElement" itemtype="http://schema.org/ListItem">
|
||
<a href="https://medlineplus.gov/" itemprop="item"><span itemprop="name">Home</span></a>
|
||
→
|
||
<meta itemprop="position" content="1"/>
|
||
</div>
|
||
|
||
|
||
<div itemscope itemprop="itemListElement" itemtype="http://schema.org/ListItem">
|
||
<a href="https://medlineplus.gov/genetics/" itemprop="item"><span itemprop="name">Genetics</span></a>
|
||
→
|
||
<meta itemprop="position" content="2"/>
|
||
</div>
|
||
|
||
|
||
|
||
<div itemscope itemprop="itemListElement" itemtype="http://schema.org/ListItem">
|
||
<a href="https://medlineplus.gov/genetics/condition/" itemprop="item"><span itemprop="name">Genetic Conditions</span></a>
|
||
→
|
||
<meta itemprop="position" content="3"/>
|
||
</div>
|
||
|
||
|
||
|
||
<div>
|
||
<span>Complement component 2 deficiency</span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/complement-component-2-deficiency/</span>
|
||
|
||
<div >
|
||
|
||
<article>
|
||
<div class="page-info">
|
||
<div class="page-title">
|
||
<a name="start" id="start"></a>
|
||
<h1>Complement component 2 deficiency</h1>
|
||
</div>
|
||
<div class="page-actions"></div>
|
||
<noscript><span class="js-disabled-message">To use the sharing features on this page, please enable JavaScript.</span></noscript>
|
||
</div>
|
||
|
||
<div class="main">
|
||
<div class="mp-exp exp-full" data-bookmark="description">
|
||
<h2>Description</h2>
|
||
|
||
<section><div class="mp-content"><p>Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses. People with complement component 2 deficiency have a significantly increased risk of recurrent bacterial infections, specifically of <a class="image-modal" data-alt="Anatomy of the respiratory system, showing the trachea and both lungs and their lobes and airways. Lymph nodes and the diaphragm are also shown." data-caption="Anatomy of the respiratory system, showing the trachea and both lungs and their lobes and airways. Lymph nodes and the diaphragm are also shown. Oxygen is inhaled into the lungs and passes through the thin membranes of the alveoli and into the bloodstream (see inset)." data-credit="© 2006 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX00024F_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00024F" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=7235" data-title="Respiratory system" href="https://medlineplus.gov/images/PX00024F_PRESENTATION.jpeg" id="PX00024F_1" title="Show image">the lungs<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (pneumonia), <a class="image-modal" data-alt="Anatomy of the brain, showing the cerebrum, cerebellum, brain stem, and other parts of the brain." data-caption="Anatomy of the brain, showing the cerebrum, cerebellum, brain stem, and other parts of the brain." data-credit="© 2010 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001ZY_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001ZY" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9115" data-title="Parts of the brain" href="https://medlineplus.gov/images/PX0001ZY_PRESENTATION.jpeg" id="PX0001ZY_2" title="Show image">the membrane covering the brain and spinal cord<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (meningitis), and the blood (<a class="image-modal" data-alt="The steps of sepsis. From the source of infection by bacteria, for example the lungs, the bacteria enter the blood steam, which leads to leaking blood vessels, dysfunction of multiple organs, including the heart, kidneys, liver, lungs, and brain, and ultimately death." data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX0000TG_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000TG" data-sourceurl="" data-title="Sepsis" href="https://medlineplus.gov/images/PX0000TG_PRESENTATION.jpeg" id="PX0000TG_3" title="Show image">sepsis<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), which may be life-threatening. These infections most commonly occur in infancy and childhood and become less frequent in adolescence and adulthood.</p><p>Complement component 2 deficiency is also associated with an increased risk of developing autoimmune disorders such as <a data-pid="16327" href="https://medlineplus.gov/genetics/condition/systemic-lupus-erythematosus/">systemic lupus erythematosus</a> (SLE) or vasculitis. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. Between 10 and 20 percent of individuals with complement component 2 deficiency develop SLE. Females with complement component 2 deficiency are more likely to have SLE than affected males, but this is also true of SLE in the general population.</p><p>The severity of complement component 2 deficiency varies widely. While some affected individuals experience recurrent infections and other immune system difficulties, others do not have any health problems related to the disorder.</p></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="frequency">
|
||
<h2>Frequency</h2>
|
||
|
||
<section><div class="mp-content"><p>In Western countries, complement component 2 deficiency is estimated to affect 1 in 20,000 individuals; its prevalence in other areas of the world is unknown.</p></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="causes">
|
||
<h2>Causes</h2>
|
||
|
||
<section><div class="mp-content"><p>Complement component 2 deficiency is caused by mutations in the <i><a data-pid="19361" href="https://medlineplus.gov/genetics/gene/c2/">C2</a></i> gene. This gene provides instructions for making the complement component 2 protein, which helps regulate a part of the body's immune response known as <a class="image-modal" data-alt="Diagram showing complement responding to a pathogen by triggering formation of a membrane attack complex, resulting in destruction of the pathogen" data-caption="" data-credit="ellepigrafica/Shutterstock.com" data-filepath="images/PX0001DC_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001DC" data-sourceurl="" data-title="Complement and membrane attack complex (MAC)" href="https://medlineplus.gov/images/PX0001DC_PRESENTATION.jpeg" id="PX0001DC_2" title="Show image">the complement system<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. The complement system is a group of proteins that work together to destroy foreign invaders, trigger inflammation, and remove debris from cells and tissues. The complement component 2 protein is involved in the pathway that turns on (activates) the complement system when foreign invaders, such as bacteria, are detected.</p><p>The most common <i>C2</i> gene mutation, which is found in more than 90 percent of people with complement component 2 deficiency, prevents the production of complement component 2 protein. A lack of this protein impairs activation of the complement pathway. As a result, the complement system's ability to fight infections is diminished. It is unclear how complement component 2 deficiency leads to an increase in autoimmune disorders. Researchers speculate that the dysfunctional complement system is unable to distinguish what it should attack, and it sometimes attacks normal tissues, leading to autoimmunity. Alternatively, the dysfunctional complement system may perform partial attacks on invading molecules, which leaves behind foreign fragments that are difficult to distinguish from the body's tissues, so the complement system sometimes attacks the body's own cells. It is likely that other factors, both genetic and environmental, play a role in the variability of the signs and symptoms of complement component 2 deficiency.</p></div>
|
||
</section>
|
||
|
||
<section>
|
||
|
||
<div class="related-genes mp-exp exp-full">
|
||
|
||
<h3>Learn more about the gene associated with Complement component 2 deficiency</h3>
|
||
|
||
<ul class="relatedmp">
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/gene/c2/">C2</a></li>
|
||
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="inheritance">
|
||
<h2>Inheritance</h2>
|
||
|
||
<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.</p></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="synonyms">
|
||
<h2>Other Names for This Condition</h2>
|
||
|
||
<section>
|
||
<ul class="bulletlist">
|
||
<li>C2 deficiency</li> <li>C2D</li> <li>Complement 2 deficiency</li>
|
||
</ul>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="resources">
|
||
<h2>Additional Information & Resources</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Genetic Testing Information</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C3150275/" target="TheNewWin">Genetic Testing Registry: Complement component 2 deficiency</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Genetic and Rare Diseases Information Center</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.info.nih.gov/diseases/1452/index" target="TheNewWin">Complement component 2 deficiency</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Patient Support and Advocacy Resources</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/217000" target="TheNewWin">COMPLEMENT COMPONENT 2 DEFICIENCY; C2D</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28complement+component+2+deficiency%29+OR+%28c2+deficiency%5BTIAB%5D%29+OR+%28complement+2+deficiency%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="references">
|
||
<h2>References</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<ul>
|
||
|
||
<li>Jonsson G, Sjoholm AG, Truedsson L, Bengtsson AA, Braconier JH, Sturfelt G.
|
||
Rheumatological manifestations, organ damage and autoimmunity in hereditary C2
|
||
deficiency. Rheumatology (Oxford). 2007 Jul;46(7):1133-9. doi:
|
||
10.1093/rheumatology/kem023. Epub 2007 May 3. <a href="https://pubmed.ncbi.nlm.nih.gov/17478473" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Jonsson G, Truedsson L, Sturfelt G, Oxelius VA, Braconier JH, Sjoholm AG.
|
||
Hereditary C2 deficiency in Sweden: frequent occurrence of invasive infection,
|
||
atherosclerosis, and rheumatic disease. Medicine (Baltimore). 2005
|
||
Jan;84(1):23-34. doi: 10.1097/01.md.0000152371.22747.1e. <a href="https://pubmed.ncbi.nlm.nih.gov/15643297" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Sjoholm AG, Jonsson G, Braconier JH, Sturfelt G, Truedsson L. Complement
|
||
deficiency and disease: an update. Mol Immunol. 2006 Jan;43(1-2):78-85. doi:
|
||
10.1016/j.molimm.2005.06.025. <a href="https://pubmed.ncbi.nlm.nih.gov/16026838" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Skattum L, van Deuren M, van der Poll T, Truedsson L. Complement deficiency
|
||
states and associated infections. Mol Immunol. 2011 Aug;48(14):1643-55. doi:
|
||
10.1016/j.molimm.2011.05.001. Epub 2011 May 31. <a href="https://pubmed.ncbi.nlm.nih.gov/21624663" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Truedsson L, Bengtsson AA, Sturfelt G. Complement deficiencies and systemic
|
||
lupus erythematosus. Autoimmunity. 2007 Dec;40(8):560-6. doi:
|
||
10.1080/08916930701510673. <a href="https://pubmed.ncbi.nlm.nih.gov/18075790" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Wen L, Atkinson JP, Giclas PC. Clinical and laboratory evaluation of
|
||
complement deficiency. J Allergy Clin Immunol. 2004 Apr;113(4):585-93; quiz 594.
|
||
doi: 10.1016/j.jaci.2004.02.003. <a href="https://pubmed.ncbi.nlm.nih.gov/15100659" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="side">
|
||
<aside>
|
||
|
||
<section><div class="side-section">
|
||
<div class="mp-img">
|
||
|
||
<img class="scale-with-grid" src="https://medlineplus.gov/images/GeneticCounseling.jpg" alt="Genetic Counseling">
|
||
|
||
</div>
|
||
</div></section>
|
||
|
||
<section><div class="side-section">
|
||
</div></section>
|
||
|
||
<section><div class="side-section">
|
||
<div class="section-header">
|
||
<h2>Related Health Topics</h2>
|
||
</div>
|
||
<div class="section-body">
|
||
<ul class="relatedmp">
|
||
|
||
<li><a href="https://medlineplus.gov/geneticdisorders.html">Genetic Disorders</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/immunesystemanddisorders.html">Immune System and Disorders</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/lupus.html">Lupus</a></li>
|
||
|
||
|
||
</ul>
|
||
</div>
|
||
</div></section>
|
||
|
||
<section><div class="side-section">
|
||
<div class="section-header red">
|
||
<h2>MEDICAL ENCYCLOPEDIA</h2>
|
||
</div>
|
||
<div class="section-body" id="more_encyclopedia">
|
||
<ul class="relatedmp" style="list-style: none; padding: 0;">
|
||
|
||
<li><a href="https://medlineplus.gov/ency/article/003456.htm">Complement</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/ency/article/002048.htm">Genetics</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/ency/article/000818.htm">Immunodeficiency disorders</a></li>
|
||
|
||
</ul>
|
||
</div>
|
||
</div></section>
|
||
|
||
<section><div class="side-section">
|
||
<div class="section-header">
|
||
<h2>Related Medical Tests</h2>
|
||
</div>
|
||
<div class="section-body">
|
||
<ul class="relatedmp">
|
||
|
||
<li><a href="https://medlineplus.gov/lab-tests/complement-blood-test/">Complement Blood Test</a></li>
|
||
|
||
|
||
</ul>
|
||
</div>
|
||
</div></section>
|
||
|
||
<section><div class="side-section">
|
||
<div class="section-header">
|
||
<h2>Understanding Genetics</h2>
|
||
</div>
|
||
<div class="section-body">
|
||
<ul class="relatedmp">
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/understanding/consult/prognosis/">What is the prognosis of a genetic condition?</a></li>
|
||
<li><a href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/mutationscausedisease/">How can gene variants affect health and development?</a></li>
|
||
<li><a href="https://medlineplus.gov/genetics/understanding/inheritance/runsinfamily/">What does it mean if a disorder seems to run in my family?</a></li>
|
||
<li><a href="https://medlineplus.gov/genetics/understanding/inheritance/inheritancepatterns/">What are the different ways a genetic condition can be inherited?</a></li>
|
||
<li><a href="https://medlineplus.gov/genetics/understanding/consult/treatment/">How are genetic conditions treated or managed?</a></li>
|
||
|
||
</ul>
|
||
</div>
|
||
</div></section>
|
||
|
||
<section><div class="side-section">
|
||
<div class="section-header hide-offscreen">
|
||
<h2>Disclaimers</h2>
|
||
</div>
|
||
<div class="section-body no-header">
|
||
MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. MedlinePlus also links to health information from non-government Web sites. See our <a href="https://medlineplus.gov/disclaimers.html">disclaimer</a> about external links and our <a href="https://medlineplus.gov/criteria.html">quality guidelines</a>.
|
||
</div>
|
||
</div></section>
|
||
|
||
</aside>
|
||
</div>
|
||
|
||
|
||
<div class="bottom">
|
||
|
||
<section>
|
||
<!--
|
||
<div class="from-ghr">
|
||
<img src="https://medlineplus.gov/images/fromGHR.png" alt="From Genetics Home Reference" />
|
||
<p>Genetics Home Reference has merged with MedlinePlus. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. <a href="https://medlineplus.gov/about/general/genetics/newhome/">Learn more</a></p>
|
||
</div>
|
||
-->
|
||
|
||
|
||
<p>The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.</p>
|
||
|
||
</section>
|
||
|
||
</div>
|
||
|
||
</article>
|
||
|
||
</div>
|
||
|
||
|
||
<div id="citation-how-to">
|
||
<button><span>Learn how to cite this page</span></button>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<footer>
|
||
<div id="mplus-footer">
|
||
<div class="footer1">
|
||
|
||
<ul class="secondarynav">
|
||
<li><a href="https://medlineplus.gov/about/">About MedlinePlus</a></li>
|
||
<li><a href="https://medlineplus.gov/whatsnew/">What's New</a></li>
|
||
<li><a href="https://medlineplus.gov/sitemap.html">Site Map</a></li>
|
||
|
||
|
||
<li><a href="https://support.nlm.nih.gov/knowledgebase/category/?id=CAT-01231&category=medlineplus&from=https%3A//medlineplus.gov/genetics/condition/complement-component-2-deficiency/" target="_blank"><span>Customer Support</span></a></li>
|
||
|
||
</ul>
|
||
|
||
<ul class="follow-footer">
|
||
<li>
|
||
<a href="https://medlineplus.gov/rss.html" class="follow-item">Subscribe to RSS<img src="https://medlineplus.gov/images/feed.png" class="social-media-toolkit-icon" alt="RSS" title="RSS"></a>
|
||
</li>
|
||
<li>
|
||
<span class="follow-label">Follow us</span>
|
||
<a href="https://twitter.com/medlineplus" class="follow-item" target="_blank">
|
||
<img src="https://medlineplus.gov/images/i_share_twitter.png" class="follow-icon" alt="X" title="X">
|
||
</a>
|
||
<a href="https://facebook.com/Mplus.gov/" class="follow-item" target="_blank">
|
||
<img src="https://medlineplus.gov/images/i_share_fb.png" class="follow-icon" alt="Facebook" title="Facebook">
|
||
</a>
|
||
<a href="https://www.instagram.com/mplusgov/" class="follow-item" target="_blank">
|
||
<img src="https://medlineplus.gov/images/Instagram_Glyph_Gradient_RGB.png" class="follow-icon" alt="Instagram" title="Instagram">
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://medlineplus.gov/social-media-toolkit/" class="social-media-toolkit-item">Social Media Toolkit<img src="https://medlineplus.gov/images/i_social_media_toolkit.png" class="social-media-toolkit-icon" alt="Social Media Toolkit" title="Social Media Toolkit"></a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="footer2">
|
||
<ul>
|
||
|
||
|
||
<li><a href=" https://www.nlm.nih.gov/web_policies.html" target='_blank'>NLM Web Policies</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/about/using/usingcontent/" >Copyright</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/accessibility.html">Accessibility</a></li>
|
||
<li><a href="https://medlineplus.gov/about/using/criteria/">Guidelines for Links</a></li>
|
||
<li><a href="https://medlineplus.gov/plugins.html">Viewers & Players</a></li>
|
||
<li><a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" target="_blank">HHS Vulnerability Disclosure</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/medlineplus-connect/">MedlinePlus Connect for EHRs</a></li>
|
||
<li><a href="https://medlineplus.gov/about/developers/">For Developers</a></li>
|
||
|
||
</ul>
|
||
|
||
<div class="address">
|
||
<a href="https://www.nlm.nih.gov" target="_blank">National Library of Medicine</a>
|
||
<span>8600 Rockville Pike, Bethesda, MD 20894</span>
|
||
<a href="https://www.hhs.gov" target="_blank">U.S. Department of Health and Human Services</a>
|
||
<a href="https://www.nih.gov" target="_blank">National Institutes of Health</a>
|
||
|
||
</div>
|
||
|
||
|
||
<div class="date">
|
||
|
||
|
||
|
||
<span id="lastupdate">Last updated June 1, 2014</span>
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
<div class="return-top"><a href="#top" title="Return to top"><img class="return-top-icon" alt="Return to top" src="https://medlineplus.gov/images/return-top.png"></a></div>
|
||
</div>
|
||
</div>
|
||
</footer>
|
||
</div>
|
||
|
||
|
||
<script src="https://medlineplus.gov/jslib/jquery-3.6.0.min.js" type="text/javascript"></script>
|
||
<script src="https://medlineplus.gov/jslib/mplus-frontend-controls-new.js" type="text/javascript"></script>
|
||
<script src="https://medlineplus.gov/jslib/mplus-share.js?id=1112022" type="text/javascript"></script>
|
||
<!--[if lte IE 9]><script src="//www.nlm.nih.gov/medlineplus/jslib/jquery.placeholder.js" type="text/javascript"></script><![endif]-->
|
||
<script src="https://medlineplus.gov/jslib/control.js" type="text/javascript"></script>
|
||
<script src="https://medlineplus.gov/uswds/js/uswds.min.js" type="text/javascript"></script>
|
||
|
||
|
||
|
||
|
||
|
||
</body>
|
||
</html>
|