Bare lymphocyte syndrome

Also known as: MHC class II deficiency

Severe combined immunodeficiency from absent MHC expression.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric immunology
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, infancy
Gene(s) involved: CIITA, RFX5, RFXANK, RFXAP

Etiology & mechanism

Defective transcription of MHC class II genes.

Gene(s) involved (4)

CIITARFX5RFXANKRFXAP

Symptoms & signs (4)

chronic diarrheafailure to thriverecurrent infectionssclerosing cholangitis

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