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