Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome

Also known as: IPEX syndrome

X-linked severe autoimmunity with early diabetes, enteropathy and eczema.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Autoimmune endocrinology
Sex & age distribution: Male: affected, nearly all; Female: carriers unaffected; Children: yes, neonatal and infantile
Gene(s) involved: FOXP3

Etiology & mechanism

FOXP3 loss impairs regulatory T cells.

Gene(s) involved (1)

FOXP3

Symptoms & signs (7)

autoimmune thyroiditiscytopeniaeczemafailure to thriveinfectionsneonatal diabetessevere watery diarrhea

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