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

Clinical genetics - 1 Aug 2026

López-Herrera Gabriela, O'Farrill-Romanillos Patricia, Rodriguez-Alba Juan Carlos, Gómez-Hernández Noemí, Hector Héctor Gómez-Tello, Fregoso-Zúñiga Ana Eunice, Yamazaki-Nakashimada Marco Antonio, Espinosa-Rosales Francisco Javier, Pérez-Pérez Daniela

Abstract excerpt

CTLA-4 haploinsufficiency is caused by heterozygous variants in CTLA4. We report a cohort of five patients with a clinical presentation including immune dysregulation, hypogammaglobulinemia, lung damage, and gastrointestinal symptoms, consistent with CTLA-4 haploinsufficiency. Patients ranged from 10 to 23 years of age, with three presenting before 7 years. Immunoglobulin levels and lymphocyte subpopulations were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42086466
DOI: 10.1111/cge.70179

Genes

CTLA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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