Multisystem autoimmune disease due to IKAROS gain of function

MONDO:0800138

An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation.

35 clinical trials for this condition and its sub-types, 0 tagged with Multisystem autoimmune disease due to IKAROS gain of function itself.

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Including sub-types (35) Tagged with Multisystem autoimmune disease due to IKAROS gain of function (0)

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