Gastroenterology · Gastroenterology / Pediatric GI disease
IPEX syndrome
also: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked
X-linked regulatory T-cell deficiency with enteropathy.
- Specialty
- Gastroenterology
- Subspecialty
- Gastroenterology / Pediatric GI disease
- Sex & age distribution
- Male: affected, X-linked; Female: carriers; Children: yes, infancy
- Gene(s) involved
- FOXP3
- Alternative names & eponyms
- Immune dysregulation, polyendocrinopathy, enteropathy, X-linked
Etiology & mechanism
FOXP3 loss.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with IPEX syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome
eczema, failure to thrive, neonatal diabetes
1 shared
Bare lymphocyte syndrome
failure to thrive
1 shared
Bartter syndrome
failure to thrive
1 shared
Castleman syndrome
cytopenias
1 shared
Cobalamin C syndrome
failure to thrive
1 shared
Deficiency of adenosine deaminase 2 syndrome
cytopenias
1 shared
Diencephalic syndrome
failure to thrive
1 shared
Fanconi–Bickel syndrome
failure to thrive
1 shared
Heiner syndrome
failure to thrive
1 shared
Hemophagocytic lymphohistiocytosis
cytopenias
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