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W2979892428 abstract "Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. Patients shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C) and altered hematopoietic compartment, immune dysregulation, and inflammation. CDC42 mutations had been associated with syndromic neurodevelopmental disorders. In vitro and in vivo assays documented unique effects of p.R186C on CDC42 localization and function, correlating with the distinctiveness of the trait. Emapalumab was critical to the survival of one patient, who underwent successful bone marrow transplantation. Early recognition of the disorder and establishment of treatment followed by bone marrow transplant are important to survival." @default.
W2979892428 created "2019-10-18" @default.
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W2979892428 date "2019-10-10" @default.
W2979892428 modified "2023-10-18" @default.
W2979892428 title "A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function" @default.
W2979892428 cites W1510527246 @default.
W2979892428 cites W1517515708 @default.
W2979892428 cites W1574141134 @default.
W2979892428 cites W1948939232 @default.
W2979892428 cites W1969546071 @default.
W2979892428 cites W1977055303 @default.
W2979892428 cites W1983033615 @default.
W2979892428 cites W2006835596 @default.
W2979892428 cites W2017237017 @default.
W2979892428 cites W2019731805 @default.
W2979892428 cites W2020410964 @default.
W2979892428 cites W2023807898 @default.
W2979892428 cites W2024500218 @default.
W2979892428 cites W2028368428 @default.
W2979892428 cites W2038634187 @default.
W2979892428 cites W2041153640 @default.
W2979892428 cites W2047262119 @default.
W2979892428 cites W2053784823 @default.
W2979892428 cites W2059696530 @default.
W2979892428 cites W2063220206 @default.
W2979892428 cites W2066021681 @default.
W2979892428 cites W2067826745 @default.
W2979892428 cites W2081481124 @default.
W2979892428 cites W2086072858 @default.
W2979892428 cites W2099192887 @default.
W2979892428 cites W2106578986 @default.
W2979892428 cites W2115616776 @default.
W2979892428 cites W2117735583 @default.
W2979892428 cites W2120118104 @default.
W2979892428 cites W2148581259 @default.
W2979892428 cites W2149915220 @default.
W2979892428 cites W2155477306 @default.
W2979892428 cites W2160995259 @default.