Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

著者: Bianca Tesi, Josef Davidsson, Matthias Voß, Elisa Rahikkala, Tim D. Holmes, Samuel C. C. Chiang, Jonna Komulainen‐Ebrahim, Sorina Gorcenco, A. Nilsson, Tim Ripperger, Hannaleena Kokkonen, David Bryder, Thoas Fioretos, Jan‐Inge Henter, Merja Möttönen, Riitta Niinimäki, Lars Nilsson, Cornelis Jan Pronk, Andreas Puschmann, Hong Qian, Johanna Uusimaa, Jukka S. Moilanen, Ulf Tedgård, Jörg Cammenga, Yenan T. Bryceson - Blood 2017 被引用: 202

cause cytopenia, immunodeficiency, variable neurological presentation, and predisposition to MDS with -7/del(7q), whereas hematopoietic revertant mosaicism commonly ameliorated clinical manifestations. The findings suggest a role for SAMD9L in regulating IFN-driven, demand-adapted hematopoiesis.