Article
Analysis of LRBA pathogenic variants and the association with functional protein domains and clinical presentation.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Jun 2024
Perez-Perez D, Santos-Argumedo L, Rodriguez-Alba J C, Lopez-Herrera G
Abstract excerpt
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....
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