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

2017; Elsevier BV; Volume: 129; Issue: 16 Linguagem: Inglês

10.1182/blood-2016-10-743302

1528-0020

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,

Chronic Lymphocytic Leukemia Research

Key Points Autosomal-dominant SAMD9L gain-of-function mutations predispose to myeloid malignancies involving chromosome 7 aberrations. Hematopoietic reversions frequently occur postnatally and are associated with milder disease manifestations.