Omenn Syndrome

About the Disease
Omenn Syndrome, also known as histiocytic medullary reticulosis, is related to hypereosinophilic syndrome and severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, 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 Cyclophosphamide and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and thymus, and related phenotypes are failure to thrive and hepatomegaly

Common Targets
CARD11 | RAG1 | RAG2

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