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

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

Abstract Common variable immunodeficiency (CVID) was a kind of primary immunodeficiency disorders with heterogeneous phenotype and genotype. Lipopolysaccharide-responsive and beige-like anchor (LRBA) mutation was identified as disease associated in CVID, advanced genetic method will help to detect a...

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Bibliographic Details
Main Authors: Yanling Ren, Feng Xiao, Fei Cheng, Xin Huang, Jianhu Li, Xiaogang Wang, Wei Lang, Xinping Zhou, Jianping Lan, Hongyan Tong
Format: Article
Language:English
Published: BMC 2021-06-01
Series:Experimental Hematology & Oncology
Subjects:
Common variable immunodeficiency
LPS-responsive beige-like anchor
Hemophagocytic lymphohistiocytosis
Myeloid malignancy
Hematopoietic stem cell transplantation
Online Access:https://doi.org/10.1186/s40164-021-00229-y

Internet

https://doi.org/10.1186/s40164-021-00229-y

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