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<span>DOCK8 immunodeficiency syndrome</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/dock8-immunodeficiency-syndrome/</span>
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<article>
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<div class="page-title">
<a name="start" id="start"></a>
<h1>DOCK8 immunodeficiency syndrome</h1>
</div>
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<div class="main">
<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>DOCK8 immunodeficiency syndrome is a disorder of the immune system. The condition is characterized by recurrent infections that are severe and can be life-threatening. The infections can be caused by bacteria, viruses, or fungi. Skin infections cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling. People with DOCK8 immunodeficiency syndrome also tend to have frequent bouts of pneumonia and other respiratory tract infections. Other immune system-related problems in people with DOCK8 immunodeficiency syndrome include an inflammatory skin disorder called <a class="image-modal" data-alt="Photo of dry, scaly skin and rash in dermatitis" data-caption="" data-credit="VrisPhuket/Shutterstock.com" data-filepath="images/PX00017O_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00017O" data-sourceurl="" data-title="Dermatitis" href="https://medlineplus.gov/images/PX00017O_PRESENTATION.jpeg" id="PX00017O_1" title="Show image">eczema<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, food or environmental allergies, and asthma.</p><p>DOCK8 immunodeficiency syndrome is characterized by abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood; the levels can be more than 10 times higher than normal for no known reason. IgE normally triggers an immune response against foreign invaders in the body, particularly parasitic worms, and plays a role in allergies. It is unclear why people with DOCK8 immunodeficiency syndrome have such high levels of this protein. People with DOCK8 immunodeficiency syndrome also have highly elevated numbers of certain <a class="image-modal" data-alt="Illustration showing different types of white blood cells: lymphocyte, basophil, neutrophil, eosinophil, and monocyte." data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX00014G_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00014G" data-sourceurl="" data-title="Types of white blood cells" href="https://medlineplus.gov/images/PX00014G_PRESENTATION.jpeg" id="PX00014G_2" title="Show image">white blood cells<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> called eosinophils (hypereosinophilia). Eosinophils aid in the immune response and are involved in allergic reactions.</p><p>Some people with DOCK8 immunodeficiency syndrome have neurological problems, such as paralysis that affects the face or one side of the body (hemiplegia). Blockage of blood flow in the brain or abnormal bleeding in the brain, both of which can lead to <a class="image-modal" data-alt="Diagrams illustrating blockage of a blood vessel in the brain in ischemic stroke and rupture of a blood vessel in the brain in hemorrhagic stroke" data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX00018S_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00018S" data-sourceurl="" data-title="Types of stroke" href="https://medlineplus.gov/images/PX00018S_PRESENTATION.jpeg" id="PX00018S_3" title="Show image">stroke<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, can also occur in DOCK8 immunodeficiency syndrome.</p><p>People with DOCK8 immunodeficiency syndrome have a greater-than-average risk of developing cancer, particularly cancers of the blood or skin.</p><p>DOCK8 immunodeficiency syndrome is also commonly called autosomal recessive hyper-IgE syndrome. However, researchers have identified several conditions that feature elevated levels of IgE and that follow an autosomal recessive pattern of inheritance. Each of these conditions has its own set of additional signs and symptoms and a different genetic cause. Some doctors consider these conditions forms of hyper-IgE syndrome, while others consider them independent disorders.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>DOCK8 immunodeficiency syndrome is a rare disorder whose prevalence is unknown.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>DOCK8 immunodeficiency syndrome is caused by mutations in the <i><a data-pid="19601" href="https://medlineplus.gov/genetics/gene/dock8/">DOCK8</a></i> gene. The protein produced from this gene plays a critical role in the survival and function of several types of immune system cells. One of the functions of the DOCK8 protein is to help maintain the structure and integrity of immune cells called <a class="image-modal" data-alt="Diagram showing cell-mediated immune response involving macrophages and T cells" data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX0001A8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001A8" data-sourceurl="" data-title="Role of T cells in the immune response" href="https://medlineplus.gov/images/PX0001A8_PRESENTATION.jpeg" id="PX0001A8_2" title="Show image">T cells<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and NK cells, which recognize and attack foreign invaders, particularly as these cells travel to sites of infection within the body. In addition, the DOCK8 protein is involved in chemical signaling pathways that stimulate other immune cells called B cells to mature and produce antibodies, which are specialized proteins that attach to foreign particles and germs, marking them for destruction.</p><p><i>DOCK8</i> gene mutations result in the production of little or no functional DOCK8 protein. Shortage of this protein impairs normal immune cell development and function. It is thought that T cells and NK cells lacking DOCK8 protein are abnormal and die too easily, particularly when moving through the layers of skin. A shortage of these immune cells impairs the immune response to foreign invaders, accounting for the severe skin infections common in DOCK8 immunodeficiency syndrome. A lack of DOCK8 protein also impairs B cell maturation and the production of antibodies. Impairment of this type of immune response leads to recurrent respiratory tract infections in people with this disorder. It is unclear how <i>DOCK8</i> gene mutations are involved in other features of DOCK8 immunodeficiency syndrome, such as the elevation of IgE levels, and neurological problems.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with DOCK8 immunodeficiency syndrome</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/dock8/">DOCK8</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>AR-HIES</li> <li>Autosomal recessive HIES</li> <li>Autosomal recessive hyper-IgE syndrome</li> <li>CID due to DOCK8 deficiency</li> <li>Combined immunodeficiency due to DOCK8 deficiency</li> <li>DOCK8 deficiency</li> <li>Hyper IgE recurrent infection syndrome, autosomal recessive</li> <li>Hyper immunoglobulin E syndrome, autosomal recessive</li> <li>Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive</li> <li>Hyperimmunoglobulin E syndrome type 2</li> <li>Non-skeletal hyper-IgE syndrome</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/C4722305/" target="TheNewWin">Genetic Testing Registry: Combined immunodeficiency due to DOCK8 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/2816/index" target="TheNewWin">Combined immunodeficiency due to DOCK8 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/243700" target="TheNewWin">HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS; HIES2</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=%28autosomal+recessive+hyper-IgE+syndrome%5BTIAB%5D%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>Engelhardt KR, Gertz ME, Keles S, Schaffer AA, Sigmund EC, Glocker C, Saghafi
S, Pourpak Z, Ceja R, Sassi A, Graham LE, Massaad MJ, Mellouli F, Ben-Mustapha I,
Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin
A, Sanal O, Tezcan I, Yeganeh M, Niehues T, Dueckers G, Weinspach S, Patiroglu T,
Unal E, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M,
Reisli I, Camcioglu Y, Gennery AR, Cant AJ, Jones A, Gaspar BH, Arkwright PD,
Pietrogrande MC, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros
J, Galal N, Bejaoui M, Barbouche MR, Geha RS, Chatila TA, Grimbacher B. The
extended clinical phenotype of 64 patients with dedicator of cytokinesis 8
deficiency. J Allergy Clin Immunol. 2015 Aug;136(2):402-12. doi:
10.1016/j.jaci.2014.12.1945. Epub 2015 Feb 25. <a href="https://pubmed.ncbi.nlm.nih.gov/25724123" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4530066/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen
A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T,
Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kutukculer N, Camcioglu Y,
Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A,
Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM,
McCabe ER, Grimbacher B, Chatila TA. Large deletions and point mutations
involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form
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