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Article

Variants in CASP10, a diagnostic challenge: Single center experience and review of the literature.

Clinical immunology (Orlando, Fla.) - 1 Sept 2021

Matas Pérez Elisabet, Valdivieso Shephard Juan Luis, Bravo García-Morato María, Robles Marhuenda Ángel, Martinez-Ojinaga Nodal Eva, Prieto Bozano Gerardo, González Casado Isabel, Salamanca Fresno Luis, Méndez Echevarria Ana, Del Rosal Rabes Teresa, Allende Martínez Luis, López-Granados Eduardo, Rodríguez Pena Rebeca

Abstract excerpt

Autoimmune lymphoproliferative syndrome is a primary immunodeficiency caused by variants in FAS-mediated apoptosis related genes and is characterized by lymphadenopathy, splenomegaly and autoimmunity. A total of six different variants in CASP10 have been described as potential causative of disease, although two of them have recently been considered polymorphisms. The high allele frequency of these variants in...

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PMID: 34329798
DOI: 10.1016/j.clim.2021.108812

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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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