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Omenn syndrome

Wednesday 26 November 2003

Omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma, desquamation, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. Patients develop fungal, bacterial, and viral infections typical of SCID. MIM.603554


- mutation in the RAG1 gene (MIM.179615)
- mutation in the RAG2 gene (MIM.179616)

- MIM.603554
- emedicine.1640