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<span>X-linked hyper IgM syndrome</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/x-linked-hyper-igm-syndrome/</span>
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<h1>X-linked hyper IgM syndrome</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. People with this disorder have abnormal levels of proteins called <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_1" title="Show image">antibodies<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. There are several classes of antibodies, and each one has a different function in the immune system. Although the name of this condition implies that affected individuals always have high levels of immunoglobulin M (IgM), some people have normal levels of this antibody. People with X-linked hyper IgM syndrome have low levels of three other classes of antibodies: immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin E (IgE). The lack of certain antibody classes makes it difficult for people with this disorder to fight off infections.</p><p>Individuals with X-linked hyper IgM syndrome begin to develop frequent infections in infancy and early childhood. Common infections include pneumonia, <a class="image-modal" data-alt="Anatomy of the paranasal sinuses (spaces between the bones around the nose) and nearby facial structures." data-caption="Anatomy of the paranasal sinuses (spaces between the bones around the nose)." data-credit="© 2012 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX00027Z_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00027Z" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9262" data-title="Paranasal sinuses" href="https://medlineplus.gov/images/PX00027Z_PRESENTATION.jpeg" id="PX00027Z_2" title="Show image">sinus<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> infections (sinusitis), and ear infections (otitis). Infections often cause these children to have chronic diarrhea and they fail to gain weight and grow at the expected rate (failure to thrive). Some people with X-linked hyper IgM syndrome have low levels of white blood cells called <a class="image-modal" data-alt="Drawing shows the steps a blood stem cell goes through to become a red blood cell, platelet, or white blood cell. A myeloid stem cell becomes a red blood cell, a platelet, or a myeloblast, which then becomes a granulocyte (the types of granulocytes are eosinophils, basophils, and neutrophils). A lymphoid stem cell becomes a lymphoblast and then becomes a B lymphocyte, T lymphocyte, or natural killer cell. A B lymphocyte may become a plasma cell." data-caption="Blood cell development. A blood stem cell goes through several steps to become a red blood cell, platelet, or white blood cell." data-credit="© 2008 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001PA_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001PA" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=7177" data-title="Development of blood cells" href="https://medlineplus.gov/images/PX0001PA_PRESENTATION.jpeg" id="PX0001PA_3" title="Show image">neutrophils<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (neutropenia). Affected individuals may develop autoimmune disorders, neurologic complications from brain and spinal cord (<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_4" title="Show image">central nervous system<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) infections, liver disease, and gastrointestinal tumors. They also have an increased risk of <a class="image-modal" data-alt="Stage II adult lymphoma; drawing shows cancer in two lymph node groups above the diaphragm and below the diaphragm. An inset shows a lymph node with a lymph vessel, an artery, and a vein. Cancer cells are shown in the lymph node." data-caption="Stage II adult lymphoma; drawing shows cancer in two lymph node groups above the diaphragm and below the diaphragm. An inset shows a lymph node with a lymph vessel, an artery, and a vein. Cancer cells are shown in the lymph node." data-credit="© 2019 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0003KS_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0003KS" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=8276" data-title="Lymphoma, adult, stage II" href="https://medlineplus.gov/images/PX0003KS_PRESENTATION.jpeg" id="PX0003KS_5" title="Show image">lymphoma<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which is a cancer of immune system cells.</p><p>The severity of X-linked hyper IgM syndrome varies among affected individuals, even among members of the same family. Without treatment, this condition can result in death during childhood or adolescence.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>X-linked hyper IgM syndrome is estimated to occur in 2 per million newborn boys.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Variants (also known as mutations) in the <em><a data-pid="18073" href="https://medlineplus.gov/genetics/gene/cd40lg/">CD40LG</a></em> gene cause X-linked hyper IgM syndrome. This gene provides instructions for making a protein called CD40 ligand, which is found on the surface of immune system cells known as T cells. CD40 ligand attaches like a key in a lock to its receptor protein, which is located on the surface of immune system cells called B cells. B cells are involved in the production of antibodies, and initially they are able to make only IgM antibodies. When CD40 ligand and its receptor protein are connected, they trigger a series of chemical signals that instruct the B cell to start making IgG, IgA, or IgE antibodies.</p><p>CD40 ligand is also necessary for T cells to interact with other cells of the immune system, and it plays a key role in the maturation (differentiation) of T cells, which allows them to carry out their specific functions. </p><p>Variants in the <em>CD40LG</em> gene lead to the production of an abnormal CD40 ligand or prevent production of this protein. If CD40 ligand does not attach to its receptor on B cells, these cells cannot produce IgG, IgA, or IgE antibodies. Variants in the <em>CD40LG</em> gene also impair the T cell's ability to mature and interact with other immune system cells. People with X-linked hyper IgM syndrome are prone to infections because they do not have a properly functioning immune system.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with X-linked hyper IgM syndrome</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/cd40lg/">CD40LG</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="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>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>HIGM1</li> <li>Hyper-IgM syndrome 1</li> <li>Immunodeficiency with Hyper-IgM, type 1</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/C0398689/" target="TheNewWin">Genetic Testing Registry: Hyper-IgM syndrome type 1</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/73/index" target="TheNewWin">X-linked hyper-IgM syndrome</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>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%22X-linked hyper IgM syndrome%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/308230" target="TheNewWin">IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1</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%28x-linked+hyper+igm+syndrome%5BTIAB%5D%29+OR+%28hyper-igm+syndrome+1%5BTIAB%5D%29+OR+%28higm1%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1440+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>Bhushan A, Covey LR. CD40:CD40L interactions in X-linked and non-X-linked
hyper-IgM syndromes. Immunol Res. 2001;24(3):311-24. doi: 10.1385/IR:24:3:311.
<a href="https://pubmed.ncbi.nlm.nih.gov/11817328" target="TheNewWin">Citation on PubMed</a></li>
<li>Dunn CP, de la Morena MT. X-Linked Hyper IgM Syndrome. 2007 May 31 [updated
2020 Feb 20]. 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/NBK1402/
<a href="https://pubmed.ncbi.nlm.nih.gov/20301576" target="TheNewWin">Citation on PubMed</a></li>
<li>Durandy A. Hyper-IgM syndromes: a model for studying the regulation of class
switch recombination and somatic hypermutation generation. Biochem Soc Trans.
2002 Aug;30(4):815-8. doi: 10.1042/bst0300815. <a href="https://pubmed.ncbi.nlm.nih.gov/12196205" target="TheNewWin">Citation on PubMed</a></li>
<li>Gilmour KC, Walshe D, Heath S, Monaghan G, Loughlin S, Lester T, Norbury G,
Cale CM. Immunological and genetic analysis of 65 patients with a clinical
suspicion of X linked hyper-IgM. Mol Pathol. 2003 Oct;56(5):256-62. doi:
10.1136/mp.56.5.256. <a href="https://pubmed.ncbi.nlm.nih.gov/14514918" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1187335/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Jain A, Atkinson TP, Lipsky PE, Slater JE, Nelson DL, Strober W. Defects of
T-cell effector function and post-thymic maturation in X-linked hyper-IgM
syndrome. J Clin Invest. 1999 Apr;103(8):1151-8. doi: 10.1172/JCI5891. <a href="https://pubmed.ncbi.nlm.nih.gov/10207167" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC408278/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, Resnick I,
Fasth A, Baer M, Gomez L, Sanders EA, Tabone MD, Plantaz D, Etzioni A, Monafo V,
Abinun M, Hammarstrom L, Abrahamsen T, Jones A, Finn A, Klemola T, DeVries E,
Sanal O, Peitsch MC, Notarangelo LD. Clinical spectrum of X-linked hyper-IgM
syndrome. J Pediatr. 1997 Jul;131(1 Pt 1):47-54. doi:
10.1016/s0022-3476(97)70123-9. <a href="https://pubmed.ncbi.nlm.nih.gov/9255191" target="TheNewWin">Citation on PubMed</a></li>
<li>Thusberg J, Vihinen M. The structural basis of hyper IgM deficiency - CD40L
mutations. Protein Eng Des Sel. 2007 Mar;20(3):133-41. doi:
10.1093/protein/gzm004. Epub 2007 Feb 16. <a href="https://pubmed.ncbi.nlm.nih.gov/17307885" target="TheNewWin">Citation on PubMed</a></li>
<li>Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, Stiehm ER,
Conley ME. The X-linked hyper-IgM syndrome: clinical and immunologic features of
79 patients. Medicine (Baltimore). 2003 Nov;82(6):373-84. doi:
10.1097/01.md.0000100046.06009.b0. <a href="https://pubmed.ncbi.nlm.nih.gov/14663287" target="TheNewWin">Citation on PubMed</a></li>
</ul>
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