HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR).

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作者： Denys,Pogozhykh ^[1] ; Deniz,Yilmaz Karapinar ^[2] ; Maksim,Klimiankou ^[3] ; Natali,Gerschmann ^[1] ; Georg,Ebetsberger-Dachs ^[4] ; Jan,Palmblad ^[5] ; Göran,Carlsson ^[6] ; Tania,Masmas ^[7] ; Sally,Kinsey ^[8] ; Marije,Bartels ^[9] ; Sabine,Mellor-Heineke ^[3] ; Karl,Welte ^[10] ; Julia,Skokowa ^[3] ; Cornelia,Zeidler ^[1]

作者单位： Clinic for Hematology, Hemostaseology, Oncology and Stem Cell Transplantation, Hannover Medical School, Hannover, Germany. ^[1] Department of Pediatric Hematology, Children's Hospital, Izmir, Turkey. ^[2] Department of Hematology, Oncology, Clinical Immunology, and Rheumatology, University Hospital Tübingen, Tübingen, Germany. ^[3] Department of Paediatrics and Adolescent Medicine, Kepler University Hospital, Linz, Austria. ^[4] Departments of Medicine and Hematology, The Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden. ^[5] Childhood Cancer Research Unit, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden. ^[6] Pediatric Hematopoietic Stem Cell Transplantation and Immunodeficiency, The Child and Adolescent Clinic, Copenhagen University Hospital, Copenhagen, Denmark. ^[7] Leeds Institute for Medical Research, University of Leeds, Leeds, UK. ^[8] Department of Paediatric Haematology, University Medical Centre Utrecht, Utrecht, The Netherlands. ^[9] University Children's Hospital Tübingen, Tübingen, Germany. ^[10]

关键词 HAX1 mutation MDS acute leukaemia bone marrow failure neutropenia

主题词人类(Humans);生活质量(Quality of Life);蛋白质类(Proteins);突变(Mutation);中性粒细胞减少(Neutropenia);登记(Registries);衔接蛋白质类, 信号转导(Adaptor Proteins, Signal Transducing)

DOI 10.1111/bjh.18840

PMID 37193639

发布时间 2023-07-18

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