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Omenn syndrome

Pronunciation: o'men

Definition: a rapidly fatal immunodeficiency disease characterized by erythroderma, diarrhea, repeated infections, hepatosplenomegaly, and leukocytosis with eosinophilia; autosomal recessive inheritance, caused by mutation in either the recombination activating gene 1 (RAG1) or the adjacent RAG2 gene on chromosome 11p.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.