Omenn syndrome


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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.
References in periodicals archive ?
Oliver Boyd had the procedure at two-and-a-half months in a bid to overcome a severe immune deficiency called Omenn syndrome.
High IgE levels are characteristic of the hyper IgE syndrome but also found in Omenn syndrome, which is a combined immune deficiency.
The remaining 2 samples were from infants diagnosed with Omenn syndrome and Wiskott-Aldrich syndrome.
Ffion was three months old when she was diagnosed with the genetic condition Omenn Syndrome, a severe combined immunodeficiency (Scid), and admitted to Great Ormond Street Hospital (GOSH).
These disorders include metaphyseal dysplasia without hypotrichosis (MDWH), anauxetic dysplasia (AD), kyphomelic dysplasia (KD) and Omenn syndrome, as well as CHH (Figure 3) [50].