" /> Omenn syndrome - CISMeF





Preferred Label : Omenn syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Reticuloendotheliosis, familial, with eosinophilia; Severe combined immunodeficiency with hypereosinophilia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the recombinase activating gene 2 (RAG2, 179616.0003); Caused by mutation in the recombinase activating gene 1 (RAG1, 179615.0005);

Laboratory abnormalities : Hypoproteinemia; Increased IgE; Very low IgM; Very low IgA; Very low IgG;

Prefixed ID : #603554;

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27/07/2025


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