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- W4384944807 abstract "Suppressor of cytokine signaling 1 (SOCS1) is a negative regulator of cytokine signaling that inhibits the activation of Janus kinases. A human disease caused by SOCS1 haploinsufficiency was first identified in 2020. To date, 18 cases of SOCS1 haploinsufficiency have been described. These patients experience enhanced activation of leukocytes and multiorgan system immunodysregulation, with immune-mediated cytopenia as the most common feature. In this review, the authors provide an overview on the biology of SOCS1 and summarize their knowledge of SOCS1 haploinsufficiency including genetics and clinical manifestations. They discuss the available treatment experience and outline an approach for the evaluation of suspected cases." @default.
- W4384944807 created "2023-07-22" @default.
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- W4384944807 date "2023-11-01" @default.
- W4384944807 modified "2023-10-13" @default.
- W4384944807 title "Suppressor of Cytokine Signaling 1 Haploinsufficiency" @default.
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- W4384944807 doi "https://doi.org/10.1016/j.rdc.2023.06.003" @default.
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