LRBA deficiency syndrome

Also known as: LRBA

Immune dysregulation with CTLA4 deficiency.

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

Etiology & mechanism

LRBA mutation.

Gene(s) involved (1)

LRBA

Symptoms & signs (3)

autoimmune cytopeniasenteropathyhypogammaglobulinemia

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