autoimmune polyendocrinopathy syndrome type I
MIM.240300 21q22.3
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