CTLA4 haploinsufficiency syndrome

Also known as: CHAI disease

Immune dysregulation from CTLA4 haploinsufficiency.

Medical specialty: Immunology
Subspecialty: Immunology / Immune dysregulation
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: CTLA4

Etiology & mechanism

CTLA4 mutation.

Gene(s) involved (1)

CTLA4

Symptoms & signs (4)

autoimmune cytopeniasenteropathyhypogammaglobulinemialymphoproliferation

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.