LRBA functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis

Biallelic loss-of-function (LOF) mutations in LRBA (lipopolysaccharide-responsive and beige-like anchor) result in a extreme syndrome of early-onset immune dysregulation referred to as LRBA deficiency. Monoallelic CTLA4 mutations result in an analogous phenotype. In each circumstances, Treg CTLA-4 ranges are considerably decreased. In beforehand reported instances of symptomatic illness related to LRBA pathogenic variants, sufferers often have severely decreased or absent LRBA protein ranges.

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