Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections.

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作者： Svetlana O,Sharapova ^[1] ; Emma,Haapaniemi ^[2] ; Inga S,Sakovich ^[3] ; Larysa V,Kostyuchenko ^[4] ; Agnes,Donkó ^[5] ; Alina,Dulau-Florea ^[6] ; Oksana,Malko ^[7] ; Anastasia V,Bondarenko ^[8] ; Maria V,Stegantseva ^[3] ; Thomas L,Leto ^[5] ; Vedat,Uygun ^[9] ; Gulsun Tezcan,Karasu ^[9] ; Steven M,Holland ^[10] ; Amy P,Hsu ^[10] ; Olga V,Aleinikova ^[3]

作者单位： Research department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk region, Belarus. Electronic address: sharapovasv@gmail.com. ^[1] Department of Hematology and Regenerative Medicine, Karolinska Institutet, Huddinge, Sweden; Biomedicum Stem Cell Center, University of Helsinki, Finland; Center for Molecular Medicine Norway, University of Oslo, Norway. ^[2] Research department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk region, Belarus. ^[3] West-Ukrainian Specialized Children's Medical Center, Lviv, Ukraine. ^[4] Molecular Defenses Section, Laboratory of Clinical Immunology and Microbiology, NIAID, National Institutes of Health, Bethesda, USA. ^[5] Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, USA. ^[6] Rivne Regional Children's Hospital, Rivne, Ukraine. ^[7] Department of Pediatric Infectious Diseases and Pediatric Immunology, P.L. Shupyk National Medical Academy for Postgraduate Education, Kiev, Ukraine. ^[8] Pediatric Bone Marrow Transplantation Unit, Medical Park Antalya Hospital, Antalya, Turkey. ^[9] Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, NIAID, National Institutes of Health, Bethesda, USA. ^[10]

关键词 Dominant activating RAC2 mutation Infantile-onset humoral immunodeficiency Viral infections