Case Report: Clinical, molecular, and functional characterization of autoimmune lymphoproliferative syndrome—a family study with a multimodal diagnosis

Case Report: Clinical, molecular, and functional characterization of autoimmune lymphoproliferative syndrome—a family study with a multimodal diagnosis

Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare immunological disorder caused by defective apoptosis, commonly due to pathogenic variants in the FAS gene. We report a comprehensive clinical, immunophenotypic, molecular, and functional evaluation of nine members of a consanguineous Brazilian...

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Main Authors: Bruna Cândido Guido, Ricardo Camargo, Caroliny Victoria dos Santos Silva, Anna Carolina Silva Dias, Robéria Mendonça de Pontes, Agenor de Castro Moreira dos Santos Júnior, Raquel Alves Toscano, Fabíola Scancetti Tavares, Alexandre de Albuquerque Antunes, Karina Mescouto de Melo
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Pediatrics
Subjects:
autoimmune lymphoproliferative syndrome (ALPS)
diagnosis
immunophenotyping
FAS variant
CASP10 variant
apoptosis defects
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1639749/full
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