Omenn syndrome
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
Etiology
mutation in the RAG1 gene (MIM.179615)
mutation in the RAG2 gene (MIM.179616)
P.S.
MIM.603554 emedicine.1640