IPEX syndrome

Also known as: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked

X-linked regulatory T-cell deficiency with enteropathy.

Medical specialty: Gastroenterology
Subspecialty: Gastroenterology / Pediatric GI disease
Sex & age distribution: Male: affected, X-linked; Female: carriers; Children: yes, infancy
Gene(s) involved: FOXP3

Etiology & mechanism

FOXP3 loss.

Gene(s) involved (1)

FOXP3

Symptoms & signs (6)

cytopeniaseczemafailure to thriveneonatal diabetessevere enteropathythyroiditis

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