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<span>X-linked severe combined immunodeficiency</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/x-linked-severe-combined-immunodeficiency/</span>
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<h1>X-linked severe combined immunodeficiency</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
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<h2>Description</h2>
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<section><div class="mp-content"><p>X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Children with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. </p><p>If untreated, infants with X-linked SCID can develop poor growth, chronic diarrhea, a fungal infection called thrush, skin rashes, and life-threatening infections. X-linked SCID can be detected shortly after birth by newborn screening, which allows for prompt treatment.</p></div>
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</section>
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<div class="mp-exp exp-full" data-bookmark="frequency">
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>X-linked SCID is the most common form of a group of severe combined immunodeficiency disorders. This group of disorders can be caused by variants in more than 20 genes. The incidence of all severe combined immunodeficiency disorders is 1 in 60,000 newborns and it is estimated that one-quarter to one-third of these cases are X-linked SCID.</p></div>
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</section>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p>Variants (also known as mutations) in the <em><a data-pid="17335" href="https://medlineplus.gov/genetics/gene/il2rg/">IL2RG</a></em> gene cause X-linked SCID. The <em>IL2RG</em> gene provides instructions for making a protein that is critical for normal immune system function. This protein is necessary for the growth and maturation of developing immune system cells called lymphocytes. Lymphocytes defend the body against potentially harmful invaders, make <a class="image-modal" data-alt="Illustration of various antigen shapes and an antigen binding to an antigen-binding fragment as part of an antibody." data-caption="An antibody is a protein component of the immune system that circulates in the blood, recognizes foreign substances like bacteria and viruses, and neutralizes them. After exposure to a foreign substance, called an antigen, antibodies continue to circulate in the blood, providing protection against future exposures to that antigen." data-credit="Darryl Leja, NHGRI" data-filepath="images/PX0000JK_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000JK" data-sourceurl="" data-title="Antigens and antibodies" href="https://medlineplus.gov/images/PX0000JK_PRESENTATION.jpeg" id="PX0000JK_2" title="Show image">antibodies<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, and help regulate the entire immune system. Variants in the <em>IL2RG</em> gene prevent these cells from developing and functioning normally. Without functional lymphocytes, the body is unable to fight off infections.</p></div>
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</section>
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<section>
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<div class="related-genes mp-exp exp-full">
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<h3>Learn more about the gene associated with X-linked severe combined immunodeficiency</h3>
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<ul class="relatedmp">
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<li><a href="https://medlineplus.gov/genetics/gene/il2rg/">IL2RG</a></li>
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</ul>
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</div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="inheritance">
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<h2>Inheritance</h2>
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<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Two generations of a family with an X-linked recessive disorder. In this form of inheritance, the chance of being affected or being a carrier depends on whether the mother or the father has the mutated gene on the X chromosome." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX000068_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000068" data-sourceurl="" data-title="X-linked recessive inheritance" href="https://medlineplus.gov/images/PX000068_PRESENTATION.jpeg" id="PX000068_1" title="Show image">X-linked recessive pattern<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. The gene associated with this condition is located on the X chromosome, which is one of the two <a class="image-modal" data-alt="Karyotype showing 22 autosomes and 2 sex chromsomes, either two X chromosomes or an X chromosome and a Y chromosome." data-caption="The X chromosome is one of two sex chromosomes. Humans and most mammals have two sex chromosomes, the X and Y. Females have two X chromosomes in their cells, while males have X and Y chromosomes in their cells. Egg cells all contain an X chromosome, while sperm cells contain an X or a Y chromosome. This arrangement means that during fertilization, it is the male that determines the sex of the offspring." data-credit="Darryl Leja, NHGRI" data-filepath="images/PX0000HO_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000HO" data-sourceurl="" data-title="Sex chromosomes (X and Y)" href="https://medlineplus.gov/images/PX0000HO_PRESENTATION.jpeg" id="PX0000HO_2" title="Show image">sex chromosomes<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a variant would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
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<h2>Other Names for This Condition</h2>
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<section>
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<ul class="bulletlist">
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<li>IL2RG SCID, T- B+ NK-</li> <li>SCIDX1</li> <li>X-linked SCID</li> <li>X-SCID</li> <li>XSCID</li>
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</ul>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="resources">
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<h2>Additional Information & Resources</h2>
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<section>
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<div class="mp-content">
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<h2>Genetic Testing Information</h2>
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<ul>
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<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C1279481/" target="TheNewWin">Genetic Testing Registry: X-linked severe combined immunodeficiency</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>
|
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|
||
</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/5618/index" target="TheNewWin">T-B+ severe combined immunodeficiency due to gamma chain 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>
|
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|
||
</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>Clinical Trials</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://clinicaltrials.gov/search?cond=%22X-linked severe combined immunodeficiency%22" target="TheNewWin">ClinicalTrials.gov</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>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/300400" target="TheNewWin">SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1</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=%28Severe+Combined+Immunodeficiency%5BMAJR%5D%29+AND+%28%28x-linked+severe+combined+immunodeficiency%5BTIAB%5D%29+OR+%28scidx1%5BTIAB%5D%29+OR+%28x-scid%5BTIAB%5D%29+OR+%28xscid%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>Allenspach EJ, Rawlings DJ, Petrovic A, Chen K. X-Linked Severe Combined
|
||
Immunodeficiency. 2003 Aug 26 [updated 2021 Aug 5]. In: Adam MP, Feldman J,
|
||
Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R)
|
||
[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available
|
||
from http://www.ncbi.nlm.nih.gov/books/NBK1410/
|
||
<a href="https://pubmed.ncbi.nlm.nih.gov/20301584" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA,
|
||
Agarwal-Hashmi R, Aznar CP, Butte MJ, Cowan MJ, Dorsey MJ, Dvorak CC, Kapoor N,
|
||
Kohn DB, Markert ML, Moore TB, Naides SJ, Sciortino S, Feuchtbaum L, Koupaei RA,
|
||
Puck JM. Newborn Screening for Severe Combined Immunodeficiency and T-cell
|
||
Lymphopenia in California, 2010-2017. Pediatrics. 2019 Feb;143(2):e20182300. doi:
|
||
10.1542/peds.2018-2300. <a href="https://www.ncbi.nlm.nih.gov/pubmed/30683812" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Buckley RH. Molecular defects in human severe combined immunodeficiency and
|
||
approaches to immune reconstitution. Annu Rev Immunol. 2004;22:625-55. doi:
|
||
10.1146/annurev.immunol.22.012703.104614. <a href="https://pubmed.ncbi.nlm.nih.gov/15032591" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Chinen J, Puck JM. Successes and risks of gene therapy in primary
|
||
immunodeficiencies. J Allergy Clin Immunol. 2004 Apr;113(4):595-603; quiz 604.
|
||
doi: 10.1016/j.jaci.2004.01.765. <a href="https://pubmed.ncbi.nlm.nih.gov/15100660" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Church AC. X-linked severe combined immunodeficiency. Hosp Med. 2002
|
||
Nov;63(11):676-80. doi: 10.12968/hosp.2002.63.11.1914. <a href="https://pubmed.ncbi.nlm.nih.gov/12474613" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Currier R, Puck JM. SCID newborn screening: What we've learned. J Allergy Clin
|
||
Immunol. 2021 Feb;147(2):417-426. doi: 10.1016/j.jaci.2020.10.020. <a href="https://www.ncbi.nlm.nih.gov/pubmed/33551023" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Gennery AR, Cant AJ. Diagnosis of severe combined immunodeficiency. J Clin
|
||
Pathol. 2001 Mar;54(3):191-5. doi: 10.1136/jcp.54.3.191. <a href="https://pubmed.ncbi.nlm.nih.gov/11253129" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731376/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Huang H, Manton KG. Newborn screening for severe combined immunodeficiency
|
||
(SCID): a review. Front Biosci. 2005 May 1;10:1024-39. doi: 10.2741/1596. <a href="https://pubmed.ncbi.nlm.nih.gov/15769602" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Puck JM, Malech HL. Gene therapy for immune disorders: good news tempered by
|
||
bad news. J Allergy Clin Immunol. 2006 Apr;117(4):865-9. doi:
|
||
10.1016/j.jaci.2006.01.041. <a href="https://pubmed.ncbi.nlm.nih.gov/16630946" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
</ul>
|
||
|
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