Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients

OBJECTIVE: LPS-responsive beige-like anchor (LRBA) deficiency is one of the most common monogenic disorders causing common variable immunodeficiency (CVID) and CVID-like disorders. However, the clinical spectrum of compound heterozygous (CHZ) LRBA variation should be extended. In this study, we pres...

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Detalles Bibliográficos
Autores principales: Yao, Jiafeng, Gu, Hao, Mou, Wenjun, Chen, Zhenping, Ma, Jie, Ma, Honghao, Li, Nan, Zhang, Rui, Wang, Tianyou, Jiang, Jin, Wu, Runhui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9465590/
https://www.ncbi.nlm.nih.gov/pubmed/36074705
http://dx.doi.org/10.1177/03946320221125591

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