Omenn syndrome

Also known as: Severe combined immunodeficiency with erythroderma

Leaky SCID with erythroderma, eosinophilia and lymphadenopathy.

Medical specialty: Hematology
Subspecialty: Hematology / Lymphoproliferative disorders
Sex & age distribution: Male: affected; Female: affected; Children: yes, infancy
Gene(s) involved: ADA, DCLRE1C, IL7R, RAG1, RAG2, RMRP

Etiology & mechanism

Hypomorphic RAG variants.

Gene(s) involved (6)

ADADCLRE1CIL7RRAG1RAG2RMRP

Symptoms & signs (7)

alopeciadiarrheaeosinophiliaerythrodermafailure to thrivehepatosplenomegalylymphadenopathy

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