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Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.

Cell death & disease - 4 May 2024

Consonni Filippo, Moreno Solange, Vinuales Colell Blanca, Stolzenberg Marie-Claude, Fernandes Alicia, Parisot Mélanie, Masson Cécile, Neveux Nathalie, Rosain Jérémie, Bamberger Sarah, Vigue Marie-Gabrielle, Malphettes Marion, Quartier Pierre, Picard Capucine, Rieux-Laucat Frédéric, Magerus Aude

Abstract excerpt

Autoimmune lymphoproliferative syndrome (ALPS) is a primary disorder of lymphocyte homeostasis, leading to chronic lymphoproliferation, autoimmune cytopenia, and increased risk of lymphoma. The genetic landscape of ALPS includes mutations in FAS, FASLG, and FADD, all associated with apoptosis deficiency, while the role of CASP10 defect in the disease remains debated. In this study, we aimed to assess the impact...

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Identifiers

PMID: 38704374
DOI: 10.1038/s41419-024-06679-6
PMCID: PMC11069523

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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