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- W2961155400 abstract "Introduction: Omenn syndrome, a variant of severe combined immunodeficiency disorder, is a rare condition, with few cases reported in literature. Case Characteristics: A three month old female infant presented with recurrent severe infections, chronic diarrhea, severe erythroderma and lymphadenopathy. Immunological work-up revealed agammaglobulinemia, with both B cell and T cell deficiency. Genetic studies were compatible with Omenn syndrome. Outcome: Bone marrow transplantation was planned, but the infant succumbed to complications. Message: In a young infant with recurrent severe infections, characteristic skin lesions and combined immunodeficiency, Omenn syndrome should be suspected. Keywords: Immunodeficiency, Omenn syndrome, Early diagnosis." @default.
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- W2961155400 date "2019-07-15" @default.
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- W2961155400 title "Omenn syndrome- A rare immunodeficiency disorder: A case report" @default.
- W2961155400 doi "https://doi.org/10.18231/j.ijmpo.2019.017" @default.
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