Immune dysregulation from CTLA4 haploinsufficiency.
- Specialty
- Immunology
- Subspecialty
- Immunology / Immune dysregulation
- Sex & age distribution
- Male: affected; Female: affected; Children: yes
- Gene(s) involved
- CTLA4
- Alternative names & eponyms
- CHAI disease
Etiology & mechanism
CTLA4 mutation.
Gene(s) involved (1)
Symptoms & signs (4)
In plain terms, someone with CTLA4 haploinsufficiency 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
LRBA deficiency syndrome
autoimmune cytopenias, enteropathy, hypogammaglobulinemia
1 shared
Autoimmune lymphoproliferative syndrome
autoimmune cytopenias
1 shared
Good syndrome
hypogammaglobulinemia
1 shared
Hoyeraal–Hreidarsson syndrome
enteropathy
1 shared
WHIM syndrome
hypogammaglobulinemia
1 shared
X-linked lymphoproliferative syndrome
hypogammaglobulinemia
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