Girish Mahajan (Editor)

Autoimmune polyendocrine syndrome type 1

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Specialty
  
endocrinology

ICD-9-CM
  
258.1

DiseasesDB
  
29212

ICD-10
  
E31.0

OMIM
  
240300

eMedicine
  
med/1867

Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis–ectodermal dystrophy/dysplasia (APECED), autoimmune polyglandular syndrome type 1, Whitaker syndrome, or candidiasis-hypoparathyroidism–Addison's disease syndrome, is a subtype of autoimmune polyendocrine syndrome (autoimmune polyglandular syndrome) in which multiple endocrine glands dysfunction as a result of autoimmunity. It is a genetic disorder inherited in autosomal recessive fashion due to a defect in the AIRE gene (autoimmune regulator), which is located on chromosome 21 and normally confers immune tolerance.

Contents

Signs and symptoms

Its main features include:

  • A mild immune deficiency, leading to persistent mucosal and cutaneous infections with candida yeasts. There is also decreased function of the spleen (hyposplenism).
  • Autoimmune dysfunction of the parathyroid gland (leading to hypocalcaemia) and the adrenal gland (Addison's disease: hypoglycemia, hypotension and severe reactions in disease).
  • Other disease associations are:
  • hypothyroidism
  • hypogonadism and infertility
  • vitiligo (depigmentation of the skin)
  • alopecia (baldness)
  • malabsorption
  • pernicious anemia
  • chronic active (autoimmune) hepatitis

    • Genetics

    It is caused in autosomal recessive manner due to a defect in AIRE gene mapped to 21q22.3.

    References

    Autoimmune polyendocrine syndrome type 1 Wikipedia
    (Text) CC BY-SA


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