释义 |
Omenn syndrome
O·menn syn·drome (ō'men), [MIM*603554] 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.O·menn syn·drome (ō'men sin'drōm) 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. Omenn, Gilbert Stanley, U.S. internist, 1941–. Omenn syndrome - a rapidly fatal autosomal recessive immunodeficiency disease. |