Omenn Syndrome (OS)

Omenn Syndrome(来自ICD-11)
别称:
Histiocytic Medullary Reticulosis
Combined Immunodeficiency with Hypereosinophilia
Severe Combined Immunodeficiency with Hypereosinophilia
Reticuloendotheliosis, Familial, with Eosinophilia
Familial Reticuloendotheliosis
Malignant Histiocytosis
Omenn's Syndrome
Os
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Omenn Syndrome, also known as histiocytic medullary reticulosis, is related to severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative and hypereosinophilic syndrome, and has symptoms including diarrhea An important gene associated with Omenn Syndrome is RAG2 (Recombination Activating 2), and among its related pathways/superpathways are Innate Immune System and MIF Mediated Glucocorticoid Regulation. The drugs Busulfan and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include t cells and b cells, and related phenotypes are failure to thrive and hepatomegaly
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MALACARDS
AR
Newborn
<1/1000000
61
920
61

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