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

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 atypical c...

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Detalles Bibliográficos
Autores principales: Ren, Yanling, Xiao, Feng, Cheng, Fei, Huang, Xin, Li, Jianhu, Wang, Xiaogang, Lang, Wei, Zhou, Xinping, Lan, Jianping, Tong, Hongyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8201866/
https://www.ncbi.nlm.nih.gov/pubmed/34120644
http://dx.doi.org/10.1186/s40164-021-00229-y

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