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autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED); autoimmune polyglandular syndrome type 1; Whitaker's syndrome

Epidemiology: - reported worldwide - exceptionally prevalent among the Finnish population (incidence 1:25000) & the Iranian jews Genetics: - autosomal recessive - associated with defects in AIRE Clinical manifestations: 1) autoimmune polyendocrinopathies: - hypoparathyroidism - adrenocortical failure - IDDM - gonadal failure - hypothyroidism - pernicious anemia - hepatitis 2) chronic mucocutaneous candidiasis 3) ectodermal dystrophies: - vitiligo - alopecia - keratopathy - dystrophy of dental enamel, nails & tympanic membranes 4) in addition, a high proportion of patients develop squamous cell carcinoma of the oral mucosa

Interactions

disease interactions

General

autoimmune polyglandular syndrome; autoimmune polyendocrine syndrome genetic disease of the immune system genetic syndrome (multisystem disorder)

Database Correlations

OMIM 240300

References

  1. OMIM :accession 240300
  2. Medical Knowledge Self Assessment Program (MKSAP) 16, 18. American College of Physicians, Philadelphia 2012, 2018
  3. NORD: National Organization for Rare Disorders https://rarediseases.org/rare-diseases/autoimmune-polyglandular-syndrome-type-1/
  4. Sarker I et al AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE 1: A RARE CASE REPORT AND REVIEW OF THE LITERATURE. AACE Clinical Case Reports: Spring 2017, Vol. 3, No. 2, pp. e96-e100. https://journals.aace.com/doi/full/10.4158/EP161366.CR
  5. Wu N Autoimmune polyglandular syndrome type 1. DermNet NZ https://dermnetnz.org/topics/autoimmune-polyglandular-syndrome-type-1/