Endocrinology · Endocrinology / Autoimmune endocrinology
Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome
also: IPEX syndrome
X-linked severe autoimmunity with early diabetes, enteropathy and eczema.
- 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
- Alternative names & eponyms
- IPEX syndrome
Etiology & mechanism
FOXP3 loss impairs regulatory T cells.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Immunodysregulation polyendocrinopathy enteropathy X-linked 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
IPEX syndrome
eczema, failure to thrive, neonatal diabetes
1 shared
Bare lymphocyte syndrome
failure to thrive
1 shared
Bartter syndrome
failure to thrive
1 shared
Cobalamin C syndrome
failure to thrive
1 shared
Diencephalic syndrome
failure to thrive
1 shared
Ectopic ACTH syndrome
infections
1 shared
Fanconi–Bickel syndrome
failure to thrive
1 shared
Heiner syndrome
failure to thrive
1 shared
Hyperimmunoglobulin E syndrome
eczema
1 shared
Imerslund–Gräsbeck syndrome
failure to thrive
Shares genes with
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