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<span>Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</span>
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<h1>Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</h1>
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<h2>Description</h2>
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<section><div class="mp-content"><p>Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's own tissues and organs by mistake.</p><p>In most cases, the signs and symptoms of APECED begin in childhood or adolescence. This condition commonly involves three characteristic features: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal gland insufficiency. Affected individuals typically have at least two of these features, and many have all three.</p><p>CMC is a tendency to develop infections of the skin, the nails, and the moist lining of body cavities (mucous membranes) caused by a type of fungus called <i>Candida</i>. These infections, which are commonly known as yeast infections, are chronic, which means they recur and can last a long time. CMC is usually the first of the three characteristic features of APECED to become apparent in people with this disorder. Almost all affected individuals develop infections of the oral cavity (known as thrush). Infections of the tube that carries food from the mouth to the stomach (the <a class="image-modal" data-alt="The esophagus and stomach are part of the upper gastrointestinal (digestive) system." data-caption="The esophagus and stomach are part of the upper gastrointestinal (digestive) system." data-credit="© 2005 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX000263_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000263" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=7206" data-title="Upper gastrointestinal tract" href="https://medlineplus.gov/images/PX000263_PRESENTATION.jpeg" id="PX000263_1" title="Show image">esophagus<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) are also common, while the skin and nails are affected less often. In women, vaginal infections frequently occur.</p><p>Other features of APECED result from the body's immune system attacking the network of hormone-producing glands (the endocrine system). The second characteristic feature of the disorder is hypoparathyroidism, which is a malfunction of <a class="image-modal" data-alt="The thyroid gland lies at the base of the throat near the trachea. It is shaped like a butterfly, with the right lobe and left lobe connected by a thin piece of tissue called the isthmus. The parathyroid glands are four pea-sized organs found in the neck near the thyroid." data-caption="The thyroid gland lies at the base of the throat near the trachea. It is shaped like a butterfly, with the right lobe and left lobe connected by a thin piece of tissue called the isthmus. The parathyroid glands are four pea-sized organs found in the neck near the thyroid. The thyroid and parathyroid glands make hormones." data-credit="© 2012 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX00025V_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00025V" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9268" data-title="Thyroid gland and parathyroid glands" href="https://medlineplus.gov/images/PX00025V_PRESENTATION.jpeg" id="PX00025V_2" title="Show image">the parathyroid glands<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. These glands secrete a hormone that regulates the body's use of calcium and phosphorus. Damage to the parathyroid glands leads to reduced parathyroid hormone production (hypoparathyroidism). Hypoparathyroidism can cause a tingling sensation in the lips, fingers, and toes; muscle pain and cramping; weakness; and fatigue. Serious effects of hypoparathyroidism, such spasms of the voicebox (larynx) leading to breathing problems and seizures, can be life-threatening.</p><p>Damage to the small hormone-producing glands on top of each kidney (<a class="image-modal" data-alt="Drawing of the abdomen showing the left and right adrenal glands, the left and right kidneys, and major blood vessels. A cross section of an adrenal gland is in an inset showing the adrenal cortex and the adrenal medulla." data-caption="Anatomy of the adrenal gland. There are two adrenal glands, one on top of each kidney. The outer part of each gland is the adrenal cortex; the inner part is the adrenal medulla." data-credit="© 2013 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001OL_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001OL" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9489" data-title="Adrenal glands" href="https://medlineplus.gov/images/PX0001OL_PRESENTATION.jpeg" id="PX0001OL_3" title="Show image">adrenal glands<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) results in a third major feature of APECED, adrenal gland insufficiency (<a data-pid="16323" href="https://medlineplus.gov/genetics/condition/autoimmune-addison-disease/">autoimmune Addison disease</a>). Reduced hormone production by the adrenal glands leads to signs and symptoms that can include fatigue, muscle weakness, loss of appetite, weight loss, low blood pressure, and changes in skin coloring. Other endocrine problems that can occur in APECED include <a data-pid="16043" href="https://medlineplus.gov/genetics/condition/type-1-diabetes/">type 1 diabetes</a> resulting from impaired production of the hormone insulin; a shortage of growth hormone leading to short stature; problems affecting the internal reproductive organs (<a class="image-modal" data-alt="The organs in the female reproductive system include the uterus, ovaries, fallopian tubes, cervix, and vagina. The uterus has a muscular outer layer called the myometrium and an inner lining called the endometrium." data-caption="Anatomy of the female reproductive system. The organs in the female reproductive system include the uterus, ovaries, fallopian tubes, cervix, and vagina. The uterus has a muscular outer layer called the myometrium and an inner lining called the endometrium." data-credit="© 2009 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001TX_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001TX" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=8262" data-title="Female reproductive system" href="https://medlineplus.gov/images/PX0001TX_PRESENTATION.jpeg" id="PX0001TX_6" title="Show image">ovaries<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> or <a class="image-modal" data-alt="Anatomy of the male reproductive and urinary systems showing the prostate, testicles, bladder, and other organs." data-caption="Anatomy of the male reproductive and urinary systems showing the prostate, testicles, bladder, and other organs." data-credit="© 2005 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001WA_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001WA" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9806" data-title="Male reproductive system" href="https://medlineplus.gov/images/PX0001WA_PRESENTATION.jpeg" id="PX0001WA_7" title="Show image">testes<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) that can cause inability to conceive children (infertility); and dysfunction of the thyroid gland (a butterfly-shaped tissue in the lower neck), which can result in many symptoms including weight gain and fatigue.</p><p>Autoimmune problems affecting non-endocrine tissues can lead to a variety of additional signs and symptoms in people with APECED. These features occur more often in North American populations than in European populations. Rashes that resemble hives (urticarial eruptions) are common and often occur in infancy and early childhood. Other early signs and symptoms may include thin enamel on the teeth (enamel hypoplasia) and chronic diarrhea or constipation associated with difficulty in absorbing nutrients from food. Additional features that occur in people with APECED, many of which can lead to permanent organ and tissue damage if left untreated, include stomach irritation (gastritis), liver inflammation (hepatitis), lung irritation (pneumonitis), dry mouth and dry eyes (Sjogren-like syndrome), inflammation of the eyes (keratitis), kidney problems (nephritis), vitamin B12 deficiency, hair loss (alopecia), loss of skin color in blotches (<a data-pid="15535" href="https://medlineplus.gov/genetics/condition/vitiligo/">vitiligo</a>), high blood pressure (<a data-pid="16961" href="https://medlineplus.gov/genetics/condition/hypertension/">hypertension</a>), or a small (atrophic) or absent spleen (asplenia).</p></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="frequency">
|
||
<h2>Frequency</h2>
|
||
|
||
<section><div class="mp-content"><p>APECED occurs in about 1 in 90,000 to 200,000 people in most populations studied, which have been mainly in Europe. This condition occurs more frequently in certain populations, affecting about 1 in 9,000 to 25,000 people among Iranian Jews, Sardinians, and Finns.</p></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="causes">
|
||
<h2>Causes</h2>
|
||
|
||
<section><div class="mp-content"><p>Mutations in the <i><a data-pid="17771" href="https://medlineplus.gov/genetics/gene/aire/">AIRE</a></i> gene cause APECED. The <i>AIRE</i> gene provides instructions for making a protein called the autoimmune regulator. As its name suggests, this protein plays a critical role in regulating certain aspects of immune system function. Specifically, it helps the body distinguish its own proteins and cells from those of foreign invaders (such as bacteria, fungi, and viruses). This distinction is critical because to remain healthy, a person's immune system must be able to identify and destroy potentially harmful invaders while sparing the body's normal tissues.</p><p>Mutations in the <i>AIRE</i> gene reduce or eliminate the function of the autoimmune regulator protein. Without enough of this protein function, the immune system's ability to distinguish between the body's proteins and foreign invaders is impaired, and it may attack the body's own organs. This reaction, which is known as autoimmunity, results in inflammation and can damage otherwise healthy cells and tissues. Autoimmune damage to the <a class="image-modal" data-alt="Illustration showing the position of the adrenal glands atop the kidneys and the two structurally different parts of the adrenal glands, with the adrenal cortex surrounding the medulla." data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX00016G_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00016G" data-sourceurl="" data-title="Adrenal gland" href="https://medlineplus.gov/images/PX00016G_PRESENTATION.jpeg" id="PX00016G_2" title="Show image">adrenal glands<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, <a class="image-modal" data-alt="The thyroid is a butterfly-shaped gland. Four parathyroid glands are located on the back of the parathyroid gland." data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX0000LS_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000LS" data-sourceurl="" data-title="Thyroid and parathyroid glands" href="https://medlineplus.gov/images/PX0000LS_PRESENTATION.jpeg" id="PX0000LS_3" title="Show image">parathyroid glands<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, and other organs underlies many of the major features of APECED.</p><p>Studies suggest that <i>AIRE</i> gene mutations also result in immune substances (antibodies) mistakenly attacking proteins involved in an immune process called the IL-17 pathway, which is important in the body's defense against <i>Candida</i>. This pathway, which depends on specialized proteins called IL-17 cytokines for signaling, creates inflammation, sending additional cytokines and white blood cells to fight foreign invaders and promote tissue repair. In addition, the IL-17 pathway promotes the production of certain antimicrobial protein segments (peptides) that control growth of <i>Candida</i> on the surface of mucous membranes. By damaging IL-17 cytokines, <i>AIRE</i> gene mutations are thought to impair the IL-17 pathway's function, resulting in CMC in people with APECED.</p><p>Researchers believe that differences in the effects of specific <i>AIRE</i> gene mutations as well as variations in other genes that have not been identified may help explain why the signs and symptoms of APECED can vary among affected individuals and populations.</p></div>
|
||
</section>
|
||
|
||
<section>
|
||
|
||
<div class="related-genes mp-exp exp-full">
|
||
|
||
<h3>Learn more about the gene associated with Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</h3>
|
||
|
||
<ul class="relatedmp">
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/gene/aire/">AIRE</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><p>In rare cases, people with one copy of certain <i><a data-pid="17771" href="https://medlineplus.gov/genetics/gene/aire/">AIRE</a></i> gene mutations in each cell have some features of APECED, such as CMC, hypoparathyroidism, or vitamin B12 deficiency, but do not have the full pattern of signs and symptoms that typically characterize the disorder. These individuals usually have one similarly-affected parent.</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>AIRE deficiency</li> <li>APECED</li> <li>APS type 1</li> <li>APS1</li> <li>Autoimmune polyendocrinopathy syndrome type 1</li> <li>Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy</li> <li>Autoimmune polyglandular syndrome, type 1</li> <li>PGA I</li> <li>Polyglandular autoimmune syndrome, type 1</li> <li>Polyglandular type I autoimmune syndrome</li>
|
||
</ul>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="resources">
|
||
<h2>Additional Information & Resources</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
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||
<h2>Genetic Testing Information</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C2749602/" target="TheNewWin">Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia</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/C0085859/" target="TheNewWin">Genetic Testing Registry: Polyglandular autoimmune 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/8466/index" target="TheNewWin">Autoimmune polyendocrinopathy 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>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=%22Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy%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/240300" target="TheNewWin">AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1</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=%28Polyendocrinopathies,+Autoimmune%5BMAJR%5D%29+AND+%28%28APECED%5BTIAB%5D%29+OR+%28Polyglandular+Autoimmune+Syndrome+Type+I%5BTIAB%5D%29+OR+%28Polyglandular+Type+I+Autoimmune+Syndrome%5BTIAB%5D%29+OR+%28AIRE+deficiency%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1800+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>Constantine GM, Lionakis MS. Lessons from primary immunodeficiencies:
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||
Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal
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||
dystrophy. Immunol Rev. 2019 Jan;287(1):103-120. doi: 10.1111/imr.12714. <a href="https://pubmed.ncbi.nlm.nih.gov/30565240" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309421/" target="TheNewWin">Free article on PubMed Central</a></li>
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||
|
||
|
||
<li>De Martino L, Capalbo D, Improda N, D'Elia F, Di Mase R, D'Assante R, D'Acunzo
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||
I, Pignata C, Salerno M. APECED: A Paradigm of Complex Interactions between
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Genetic Background and Susceptibility Factors. Front Immunol. 2013 Oct 23;4:331.
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doi: 10.3389/fimmu.2013.00331. <a href="https://pubmed.ncbi.nlm.nih.gov/24167503" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3805967/" target="TheNewWin">Free article on PubMed Central</a></li>
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||
|
||
|
||
<li>De Martino L, Capalbo D, Improda N, Lorello P, Ungaro C, Di Mase R, Cirillo E,
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||
Pignata C, Salerno M. Novel Findings into AIRE Genetics and Functioning: Clinical
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Implications. Front Pediatr. 2016 Aug 22;4:86. doi: 10.3389/fped.2016.00086.
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eCollection 2016. <a href="https://pubmed.ncbi.nlm.nih.gov/27597936" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992815/" target="TheNewWin">Free article on PubMed Central</a></li>
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||
<li>DeVoss JJ, Anderson MS. Lessons on immune tolerance from the monogenic disease
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APS1. Curr Opin Genet Dev. 2007 Jun;17(3):193-200. doi:
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10.1016/j.gde.2007.04.001. Epub 2007 Apr 26. <a href="https://pubmed.ncbi.nlm.nih.gov/17466510" target="TheNewWin">Citation on PubMed</a></li>
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||
<li>Ferre EM, Rose SR, Rosenzweig SD, Burbelo PD, Romito KR, Niemela JE, Rosen LB,
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Break TJ, Gu W, Hunsberger S, Browne SK, Hsu AP, Rampertaap S, Swamydas M, Collar
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AL, Kong HH, Lee CR, Chascsa D, Simcox T, Pham A, Bondici A, Natarajan M, Monsale
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J, Kleiner DE, Quezado M, Alevizos I, Moutsopoulos NM, Yockey L, Frein C,
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Soldatos A, Calvo KR, Adjemian J, Similuk MN, Lang DM, Stone KD, Uzel G, Kopp JB,
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Bishop RJ, Holland SM, Olivier KN, Fleisher TA, Heller T, Winer KK, Lionakis MS.
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Redefined clinical features and diagnostic criteria in autoimmune
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polyendocrinopathy-candidiasis-ectodermal dystrophy. JCI Insight. 2016 Aug
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18;1(13):e88782. doi: 10.1172/jci.insight.88782. <a href="https://pubmed.ncbi.nlm.nih.gov/27588307" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004733/" target="TheNewWin">Free article on PubMed Central</a></li>
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||
<li>Gallo V, Giardino G, Capalbo D, Palamaro L, Romano R, Santamaria F, Maio F,
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Salerno M, Vajro P, Pignata C. Alterations of the autoimmune regulator
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transcription factor and failure of central tolerance: APECED as a model. Expert
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Rev Clin Immunol. 2013 Jan;9(1):43-51. doi: 10.1586/eci.12.88. <a href="https://pubmed.ncbi.nlm.nih.gov/23256763" target="TheNewWin">Citation on PubMed</a></li>
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||
<li>Kisand K, Boe Wolff AS, Podkrajsek KT, Tserel L, Link M, Kisand KV, Ersvaer E,
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Perheentupa J, Erichsen MM, Bratanic N, Meloni A, Cetani F, Perniola R,
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Ergun-Longmire B, Maclaren N, Krohn KJ, Pura M, Schalke B, Strobel P, Leite MI,
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Battelino T, Husebye ES, Peterson P, Willcox N, Meager A. Chronic mucocutaneous
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||
candidiasis in APECED or thymoma patients correlates with autoimmunity to
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Th17-associated cytokines. J Exp Med. 2010 Feb 15;207(2):299-308. doi:
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10.1084/jem.20091669. Epub 2010 Feb 1. <a href="https://pubmed.ncbi.nlm.nih.gov/20123959" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2822605/" target="TheNewWin">Free article on PubMed Central</a></li>
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||
|
||
<li>Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal
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||
dystrophy and other primary immunodeficiency diseases help to resolve the nature
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of protective immunity against chronic mucocutaneous candidiasis. Curr Opin
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Pediatr. 2013 Dec;25(6):715-21. doi: 10.1097/MOP.0000000000000028. <a href="https://pubmed.ncbi.nlm.nih.gov/24240291" target="TheNewWin">Citation on PubMed</a></li>
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||
<li>Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal
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dystrophy. J Clin Immunol. 2015 Jul;35(5):463-78. doi: 10.1007/s10875-015-0176-y.
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Epub 2015 Jul 5. <a href="https://pubmed.ncbi.nlm.nih.gov/26141571" target="TheNewWin">Citation on PubMed</a></li>
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||
|
||
<li>Oftedal BE, Hellesen A, Erichsen MM, Bratland E, Vardi A, Perheentupa J, Kemp
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||
EH, Fiskerstrand T, Viken MK, Weetman AP, Fleishman SJ, Banka S, Newman WG,
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||
Sewell WA, Sozaeva LS, Zayats T, Haugarvoll K, Orlova EM, Haavik J, Johansson S,
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Knappskog PM, Lovas K, Wolff AS, Abramson J, Husebye ES. Dominant Mutations in
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the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific
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Autoimmune Diseases. Immunity. 2015 Jun 16;42(6):1185-96. doi:
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10.1016/j.immuni.2015.04.021. <a href="https://pubmed.ncbi.nlm.nih.gov/26084028" target="TheNewWin">Citation on PubMed</a></li>
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||
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||
<li>Puel A, Doffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C,
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Cobat A, Ouachee-Chardin M, Toulon A, Bustamante J, Al-Muhsen S, Al-Owain M,
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Arkwright PD, Costigan C, McConnell V, Cant AJ, Abinun M, Polak M, Bougneres PF,
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Kumararatne D, Marodi L, Nahum A, Roifman C, Blanche S, Fischer A, Bodemer C,
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Abel L, Lilic D, Casanova JL. Autoantibodies against IL-17A, IL-17F, and IL-22 in
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patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine
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||
syndrome type I. J Exp Med. 2010 Feb 15;207(2):291-7. doi: 10.1084/jem.20091983.
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||
Epub 2010 Feb 1. <a href="https://pubmed.ncbi.nlm.nih.gov/20123958" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2822614/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="side">
|
||
<aside>
|
||
|
||
<section><div class="side-section">
|
||
<div class="mp-img">
|
||
|
||
<a class="image-modal" id="14428_featured" href="https://medlineplus.gov/images/PX0003LC_PRESENTATION.jpeg"
|
||
data-filepath="images/PX0003LC_PRESENTATION.jpeg"
|
||
data-title="Endocrine glands"
|
||
data-caption="Glands and organs of the endocrine system. The endocrine system is made up of glands and organs that make hormones that control many important functions in the body. These include the hypothalamus, pituitary gland, pineal gland, thyroid gland, parathyroid glands, thymus, adrenal glands, pancreas, and the reproductive organs (ovaries in females and testes in males)."
|
||
data-credit="© 2019 Terese Winslow LLC for the National Cancer Institute"
|
||
data-alt="Glands and organs of the endocrine system; drawing shows the hypothalamus, pituitary gland, pineal gland, thyroid gland, thymus, adrenal gland, pancreas, ovaries (female), and testes (male). An inset shows the back view of the thyroid gland with the four pea-sized parathyroid glands on it."
|
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