Analysis of LRBA pathogenic variants and the association with functional protein domains and clinical presentation
D. Perez‐Perez,
L. Santos‐Argumedo,
J. C. Rodriguez‐Alba
et al.
Abstract:LRBA is a cytoplasmic protein that is ubiquitously distributed. Almost all LRBA domains have a scaffolding function. In 2012, it was reported that homozygous variants in LRBA are associated with early‐onset hypogammaglobulinemia. Since its discovery, more than 100 pathogenic variants have been reported. This review focuses on the variants reported in LRBA and their possible associations with clinical phenotypes. In this work LRBA deficiency cases reported more than 11 years ago have been revised. A database wa… Show more
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