Synonym: autoimmune polyglandular syndrome type I (APS I)
Inheritance: autosomal recessive
Major criteria - 2 or more of the following:
(1) chronic mucocutaneous candidiasis
(2) hypoparathyroidism
(3) Addison's disease (adrenal insufficiency)
(4) mutation in the autoimmune regulator (AIRE) gene on chromosome 21q22.3
Associated findings may include one or more of the following:
(1) hypothyroidism
(2) hypogonadism
(3) insulin-dependent diabetes mellitus
(4) chronic active autoimmune hepatitis
(5) pernicious anemia (often juvenile onset)
(6) vitiligo
(7) alopecia
(8) biliary cirrhosis
(9) dental enamel hypoplasia (ectodermal dysplasia)
(10) pitted nail dystrophy (ectodermal dysplasia)
(11) malabsorption
(12) keratopathy
(13) calcification of the tympanic membrane
Onset of symptoms is during infancy or early childhood, Many of the endocrine manifestations appear during childhood or adolescence.
