Whole exome sequencing reveals a novel LRBA mutation and clonal hematopoiesis in a common variable immunodeficiency patient presented with hemophagocytic lymphohistiocytosis.

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第一作者： Yanling,Ren

第一单位： Myelodysplastic Syndromes Diagnosis and Therapy Center, Department of Hematology, The First Affiliated Hospital, College of Medicine, Zhejiang University, 79# Qingchun Road, Hangzhou, 310003, Zhejiang, China.

作者： Yanling,Ren ^[1] ; Feng,Xiao ^[2] ; Fei,Cheng ^[2] ; Xin,Huang ^[3] ; Jianhu,Li ^[2] ; Xiaogang,Wang ^[2] ; Wei,Lang ^[4] ; Xinping,Zhou ^[2] ; Jianping,Lan ^[1] ; Hongyan,Tong ^[2]

作者单位： Myelodysplastic Syndromes Diagnosis and Therapy Center, Department of Hematology, The First Affiliated Hospital, College of Medicine, Zhejiang University, 79# Qingchun Road, Hangzhou, 310003, Zhejiang, China. ^[1] Department of Hematology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, Zhejiang, China. ^[2] Department of Pathology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China. ^[3] Department of Hematology and Hematopoietic Stem Cell Transplant Center, Zhejiang Provincial People's Hospital, Hangzhou, 310014, Zhejiang, China. ^[4] Department of Hematology and Hematopoietic Stem Cell Transplant Center, Zhejiang Provincial People's Hospital, Hangzhou, 310014, Zhejiang, China. lanjp@163.com. ^[5] Myelodysplastic Syndromes Diagnosis and Therapy Center, Department of Hematology, The First Affiliated Hospital, College of Medicine, Zhejiang University, 79# Qingchun Road, Hangzhou, 310003, Zhejiang, China. tonghongyan@zju.edu.cn. ^[6] Department of Hematology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, Zhejiang, China. tonghongyan@zju.edu.cn. ^[7]

关键词 Common variable immunodeficiency Hematopoietic stem cell transplantation Hemophagocytic lymphohistiocytosis LPS-responsive beige-like anchor Myeloid malignancy

DOI 10.1186/s40164-021-00229-y

PMID 34120644

发布时间 2021-06-18

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