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Article

Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations.

The Journal of allergy and clinical immunology - 1 May 2023

Maccari Maria Elena, Schneider Pascal, Smulski Cristian Roberto, Meinhardt Andrea, Pinto Fernando, Gonzalez-Granado Luis Ignacio, Schuetz Catharina, Sica Mauricio Pablo, Gross Miriam, Fuchs Ilka, Kury Patrick, Heeg Maximilian, Vocat Tatjana, Willen Laure, Thomas Caroline, Hühn Regina, Magerus Aude, Lorenz Myriam, Schwarz Klaus, Rieux-Laucat Frederic, Ehl Stephan, Rensing-Ehl Anne

Abstract excerpt

BACKGROUND: Fas ligand (FasL) is expressed by activated T cells and induces death in target cells upon binding to Fas. Loss-of-function FAS or FASLG mutations cause autoimmune-lymphoproliferative syndrome (ALPS) characterized by expanded double-negative T cells (DNT) and elevated serum biomarkers. While most ALPS patients carry heterozygous FAS mutations, FASLG mutations are rare and usually biallelic. Only 2...

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Identifiers

PMID: 36621650
DOI: 10.1016/j.jaci.2022.11.028

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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