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Type I polyglandular autoimmune syndrome
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Type I polyglandular autoimmune syndrome

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Synopsis

A rare congenital condition of defective immune cells that disrupt multiple body systems. The condition is the result of autosomal recessive inheritance of mutations on both copies of the AIRE gene, the autoimmune regulator. Occurs more frequently in Iranian Jews, Finns, Sardinians, Russians, and Eastern Europeans.

Patients will present with chronic mucocutaneous candidiasis, hypoparathyroidism, and/or Addison disease. Approximately 30% of patients will only present with 2 of these 3 conditions. The syndrome typically begins showing signs before adolescence, sometimes within the first 2 years of life.  

Chronic mucocutaneous candidiasis is commonly the first indication of the disease. Patients may present with reoccurring Candida diaper infections, or with vulvovaginal candidiasis developing around puberty. Persistent abdominal pain and diarrhea may be signs of gastrointestinal Candida infections. The nails, oral mucosa, and esophagus are also areas of frequent infection.

Hypoparathyroidism is typically detectable before puberty but after the onset of chronic mucocutaneous candidiasis. Common findings include paresthesias, diaphoresis, irritability, myalgia, weakness, and fatigue. Addison disease appears in the majority of patients and is commonly the last condition to present. Affected patients may have deficient levels of cortisol, aldosterone, and adrenal androgens. Common findings include fatigue, anorexia, abdominal pain, weakness, depression or other behavioral changes, and skin hyperpigmentation. Unrecognized adrenal crises may be fatal. Therapy includes hormone replacement. Patients are more susceptible to squamous cell carcinoma of the oral mucosa and esophagus over time, as compared to the general population.

For more information, see OMIM.

Codes

ICD10CM:
E31.0 – Autoimmune polyglandular failure

SNOMEDCT:
11244009 – Polyglandular autoimmune syndrome, type 1

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Last Updated: 04/20/2018
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Type I polyglandular autoimmune syndrome
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Type I polyglandular autoimmune syndrome
Copyright © 2019 VisualDx®. All rights reserved.