2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.

doi:10.1007/s10875-024-01831-5

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Article

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.

Journal of clinical immunology - 23 Nov 2024

Brakta Charlyne, Tabet Anne-Claude, Puel Mathilde, Pacault Mathilde, Stolzenberg Marie-Claude, Goudet Claire, Merger Marguerite, Reumaux Héloïse, Lambert Nathalie, Alioua Najiba, Malan Valérie, Hanein Sylvain, Dupin-Deguine Delphine, Treiner Emmanuel, Lefèvre Guillaume, Farhat Méryem-Maud, Luca Luminita Elena, Hureaux Marguerite, Li Hailun, Chelloug Nora, Dehak Rabha, Boussion Simon, Ouachée-Chardin Marie, Schleinitz Nicolas, Abou Chahla Wadih, Barlogis Vincent, Vély Frédéric, Oksenhendler Eric, Quartier Pierre, Pasquet Marlène, Suarez Felipe, Bustamante Jacinta, Neven Bénédicte, Picard Capucine, Rieux-Laucat Frédéric, Lévy Jonathan, Rosain Jérémie

Abstract excerpt

PURPOSE: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune and lymphoproliferation-mediated features with incomplete penetrance. It has been identified in hundreds of patients but copy number variants (CNVs) have been reported in only 12 kindreds, including...

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PMID: 39578275
DOI: 10.1007/s10875-024-01831-5

Genes

CTLA4
KLF7

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