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Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation.

Immunobiology - 1 Jan 2016

Martínez-Feito Ana, Melero Josefa, Mora-Díaz Sergio, Rodríguez-Vigil Carmen, Elduayen Ramón, González-Granado Luis I, Pérez-Méndez Dolores, Sánchez-Zapardiel Elena, Ruiz-García Raquel, Menchén Miguela, Díaz-Madroñero Josefa, Paz-Artal Estela, Del Orbe-Barreto Rafael, Riñón Marta, Allende Luis M

Abstract excerpt

Autoimmune lymphoproliferative syndrome (ALPS) is a primary immunodeficiency caused by impaired Fas/FasL-mediated apoptosis of lymphocytes and is characterized by chronic nonmalignant or benign lymphoproliferation, autoimmune manifestations and expansion of double negative (DN) T-cells (TCRαβ+CD4-CD8-). Most cases of ALPS are associated with germline (ALPS-FAS) or somatic (ALPS-sFAS) heterozygous FAS mutations or...

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Autoimmune Lymphoproliferative Syndrome
fas Receptor
Immunologic Memory
Lymphatic Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phytohemagglutinins

Primary Cell Culture

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Identifiers

PMID: 26323380
DOI: 10.1016/j.imbio.2015.08.004

Genes

FAS
CASP10

Variants

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

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