Developmental and genetic diseases

*Gene map locus Xp11.23-q13.3

Autoimmunity-immunodeficiency syndrome, X-linked

DMSD

Diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea

Diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked

Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy

IDDM-secretory diarrhea syndrome

IPEX

Immunodeficiency, polyendocrinopathy, and enteropathy, X-linked

Polyendocrinopathy, immune dysfunction, and diarrhea, X-linked

X-linked autoimmunity-allergic dysregulation syndrome

XLAAD

XPID

[Clinical features: severe refractory and life-threatening diarrhea; type 1 diabetes; hypothyroidism; hemolytic anemia; thrombocytopenia]

[Inheritance: X-linked recessive]