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Article

A New Variant in CTLA4 Highlights the Heterogeneous Phenotype of CTLA4 Haploinsufficiency.

Journal of clinical immunology - 12 Nov 2025

Sormani Jonathan, Belot Alexandre, Nove-Josserand Raphaele, Picard Capucine, Rosain Jérémie, Villard Marine, Viel Sebastien, Ouachee-Chardin Marie, Mercier Emma, Giannoli Catherine, Moskovtchenko Philippe, Rabeyrin Maud, Balme Brigitte, Durieu Isabelle, Mathieu Anne-Laure, Reynaud Quitterie

Abstract excerpt

Haploinsufficiency of cytotoxic T-lymphocyte associated protein 4 (CTLA4), a known cause of inborn errors of immunity, can lead to autoimmunity, inflammation, neoplasia and infections. A previously undescribed CTLA4 variant was identified in a patient who presented with life-threatening cutaneous infection caused by Pseudomonas aeruginosa, severe VZV infection, and Evans syndrome. Our aim was to assess the...

Topics

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Adolescent
CTLA-4 Antigen
Genetic Association Studies
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Haploinsufficiency

Immunophenotyping

T-Lymphocytes, Regulatory

Source

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Identifiers

PMID: 41219619
DOI: 10.1007/s10875-025-01960-5
PMCID: PMC12605463

Genes

CTLA4
CD4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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