STAT1 gain-of-function syndrome

Also known as: STAT1 GOF

Chronic mucocutaneous candidiasis with autoimmunity.

Medical specialty: Immunology
Subspecialty: Immunology / Immune dysregulation
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: STAT1

Etiology & mechanism

STAT1 gain-of-function mutation.

Gene(s) involved (1)

STAT1

Symptoms & signs (3)

aneurysmsautoimmunitychronic candidiasis

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