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

ABSTRACT:

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

Retrospective analysis of the clinical manifestations, management, and outcomes of five cases (from five pedigrees) with LRBA gene CHZ variants which initially manifested as single/multilineage immune cytopenias was performed.

Results

1. Gene variations: All five patients inherited the compound heterozygous LRBA variations from their parents which were thought to b

SUBMITTER: Yao J 

PROVIDER: S-EPMC9465590 | biostudies-literature | 2022 Jan-Dec

REPOSITORIES: biostudies-literature