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<span>Complement component 8 deficiency</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/complement-component-8-deficiency/</span>
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<article>
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<h1>Complement component 8 deficiency</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Complement component 8 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. People with complement component 8 deficiency have a significantly increased risk of recurrent bacterial infections, particularly by a bacterium called <i>Neisseria meningitidis</i>. Infection by this bacterium causes inflammation of the membranes surrounding the brain and spinal cord (meningitis). Although meningitis can be life-threatening, individuals with complement component 8 deficiency are less likely to die from the infection than people in the general population who contract it.</p><p>The severity of complement component 8 deficiency varies widely. While some people with this condition experience one or more infections, others do not have any health problems related to the disorder.</p><p>There are two types of complement component 8 deficiency, types I and II, classified by their genetic cause. The two types have the same signs and symptoms.</p></div>
</section>
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<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>Complement component 8 deficiency is a rare disorder, although its prevalence is unknown. Type I occurs in several populations, particularly in people with Hispanic, Japanese, or African Caribbean heritage, whereas type II primarily occurs in people of Northern European descent.</p></div>
</section>
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<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Complement component 8 deficiency is caused by mutations in the <i><a data-pid="19633" href="https://medlineplus.gov/genetics/gene/c8a/">C8A</a></i> or <i><a data-pid="19635" href="https://medlineplus.gov/genetics/gene/c8b/">C8B</a></i> gene. <i>C8A</i> gene mutations underlie type I, and <i>C8B</i> gene mutations cause type II. These genes provide instructions for making pieces of a protein complex called complement component 8. This complex is composed of an alpha subunit, produced from the <i>C8A</i> gene, a beta subunit, produced from the <i>C8B</i> gene, and a gamma subunit, produced from another gene called <i>C8G</i>.</p><p>Complement component 8 aids in a part of the body's immune response known as the <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_3" title="Show image">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. Complement component 8 combines with several other complement proteins to form the membrane attack complex (MAC), which inserts itself in the outer membrane of bacterial cells. This complex creates a hole (pore) in the membrane, which kills the bacterium.</p><p>Mutations in either <i>C8A</i> or <i>C8B</i> lead to a shortage of the respective subunit, which impairs formation of complement component 8. Without complement component 8, membrane attack complexes cannot form, which impairs the immune response, particularly against <i>Neisseria meningitidis</i>. This impaired immune response leaves affected individuals prone to recurrent episodes of meningitis.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the genes associated with Complement component 8 deficiency</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/c8a/">C8A</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/c8b/">C8B</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>C8 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/C3151081/" target="TheNewWin">Genetic Testing Registry: Type i complement component 8 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>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C3151080/" target="TheNewWin">Genetic Testing Registry: Type II complement component 8 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/10626/index" target="TheNewWin">Complement component 8 deficiency, type i</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>
<li><a href="https://rarediseases.info.nih.gov/diseases/10625/index" target="TheNewWin">Complement component 8 deficiency, type ii</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/613789" target="TheNewWin">COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2</a></li>
<li><a href="https://omim.org/entry/613790" target="TheNewWin">COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1</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+8+deficiency%5BTIAB%5D%29+OR+%28C8+deficiency%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%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>Bubeck D. The making of a macromolecular machine: assembly of the membrane
attack complex. Biochemistry. 2014 Apr 1;53(12):1908-15. doi: 10.1021/bi500157z.
Epub 2014 Mar 18. <a href="https://pubmed.ncbi.nlm.nih.gov/24597946" target="TheNewWin">Citation on PubMed</a></li>
<li>Kaufmann T, Hansch G, Rittner C, Spath P, Tedesco F, Schneider PM. Genetic
basis of human complement C8 beta deficiency. J Immunol. 1993 Jun
1;150(11):4943-7. <a href="https://pubmed.ncbi.nlm.nih.gov/8098723" target="TheNewWin">Citation on PubMed</a></li>
<li>Kojima T, Horiuchi T, Nishizaka H, Fukumori Y, Amano T, Nagasawa K, Niho Y,
Hayashi K. Genetic basis of human complement C8 alpha-gamma deficiency. J
Immunol. 1998 Oct 1;161(7):3762-6. <a href="https://pubmed.ncbi.nlm.nih.gov/9759902" target="TheNewWin">Citation on PubMed</a></li>
<li>Merle NS, Noe R, Halbwachs-Mecarelli L, Fremeaux-Bacchi V, Roumenina LT.
Complement System Part II: Role in Immunity. Front Immunol. 2015 May 26;6:257.
doi: 10.3389/fimmu.2015.00257. eCollection 2015. <a href="https://pubmed.ncbi.nlm.nih.gov/26074922" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4443744/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Rosa DD, Pasqualotto AC, de Quadros M, Prezzi SH. Deficiency of the eighth
component of complement associated with recurrent meningococcal meningitis--case
report and literature review. Braz J Infect Dis. 2004 Aug;8(4):328-30. doi:
10.1590/s1413-86702004000400010. Epub 2004 Nov 19. <a href="https://pubmed.ncbi.nlm.nih.gov/15565265" target="TheNewWin">Citation on PubMed</a></li>
<li>Saucedo L, Ackermann L, Platonov AE, Gewurz A, Rakita RM, Densen P.
Delineation of additional genetic bases for C8 beta deficiency. Prevalence of
null alleles and predominance of C--&gt;T transition in their genesis. J Immunol.
1995 Nov 15;155(10):5022-8. <a href="https://pubmed.ncbi.nlm.nih.gov/7594510" target="TheNewWin">Citation on PubMed</a></li>
</ul>
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<h2>MEDICAL ENCYCLOPEDIA</h2>
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<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>
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<li><a href="https://medlineplus.gov/lab-tests/complement-blood-test/">Complement Blood Test</a></li>
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<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>
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