Clinical and Genetic Characteristics of Patients With Novel and Uncertain Significance Variants in CTLA4: A Mexican Cohort

Pathogenic or VUS heterozygous CTLA4 variants — haploinsufficiency of a major negative regulator of T cell immune response

Clinical and genetic characteristics of patients with novel and uncertain significance (VUS) CTLA4 variants are described in a Mexican cohort. CTLA4 haploinsufficiency (CHAI syndrome) causes immune dysregulation with autoimmunity, lymphoproliferation, and cytopenias. This study characterizes CTLA4 variant spectrum in Hispanic patients and contributes to VUS reclassification in this gene.

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CTLA4 haploinsufficiency remains underdiagnosed, particularly in non-European populations where allele frequency data are limited. A Mexican cohort is valuable for calibrating variant pathogenicity in this genetic context. The distinction between pathogenic variant and VUS has direct therapeutic implications, as abatacept is an effective targeted treatment for CHAI carriers.

Clinical impact : 2/3 · Evidence strength : 1/3 · Novelty : 1/2 · Sample size : 1/1 · Journal quality : 1/1 → Total : 6/10