DISEASES

Disease-gene associations mined from literature

Human genes for Omenn syndrome

Omenn syndrome [DOID:0060010]

A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells.

Synonyms:  Omenn syndrome,  DOID:0060010,  Omenn disease,  Omenn disorder

Linkouts:  OMIM