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Article

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

International journal of immunopathology and pharmacology - 1 Jan 2000

Yao Jiafeng, Gu Hao, Mou Wenjun, Chen Zhenping, Ma Jie, Ma Honghao, Li Nan, Zhang Rui, Wang Tianyou, Jiang Jin, Wu Runhui

Abstract excerpt

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 presented five cases of compound heterozygous LRBA with various refractory cytopenias. MATERIALS AND METHODS:...

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Identifiers

PMID: 36074705
DOI: 10.1177/03946320221125591
PMCID: PMC9465590

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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