X-linked immunodeficiency, polyendocrinopathy, enteropathy(IPEX)

IPEX, an X-linked syndrome is a rare disorder occurring in boys. The syndrome is caused by a mutation in FOXP3, a putative DNA-binding protein. This protein has significant homology to forkhead/winged-helix transcription factor family. Most mutations of FOXP3 are localized in the carboxyl-terminal forkhead DNA binding domain.

Alternative names


X-linked autoimmunity-allergic dysregulation syndrome, XLAAD

IDDM-secretory diarrhea syndrome, DMSD

Autoimmunity-immunodeficiency syndrome

Diarrhea, polyendocrinopathy, fatal infection syndrome

Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy

Polyendocrinopathy, immune dysfunction, and diarrhea; XPID

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

Immunodeficiency, polyendocrinopathy, and enteropathy, formerly absence of islets of Langerhans


  • Other well-defined immunodeficiency syndromes
    • Autoimmune disorders




#304790 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX

*300292 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX

Cross references


Incidence is not known yet.