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autoimmune polyendocrinopathy syndrome type I

MIM.240300 21q22.3

Saturday 19 June 2004

Synopsis

- keratopathy
- keratoconjunctivitis
- dental enamel hypoplasia
- chronic active hepatitis
- cholelithiasis
- asplenia
- gastrointestinal malabsorption with diarrhea
- chronic atrophic gastritis
- hypogonadism
- vitiligo
- ectodermal dystrophy
- alopecia
- adrenal insufficiency (Addison disease)
- hypoparathyroidism
- insulin-dependent diabetes mellitus
- hypoaldosteronism, transient, isolated
- pituitary defects
- pernicious anemia
- chronic mucocutaneous candidiasis
- multiple autoantibodies

Etiology

- germline mutations in the autoimmune regulator gene (AIRE) (MIM.607358) at 21q22.3