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Article

Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation.

The Journal of allergy and clinical immunology - 1 Feb 2013

Magerus-Chatinet Aude, Stolzenberg Marie-Claude, Lanzarotti Nina, Neven Bénédicte, Daussy Cécile, Picard Capucine, Neveux Nathalie, Desai Mukesh, Rao Meghana, Ghosh Kanjaksha, Madkaikar Manisha, Fischer Alain, Rieux-Laucat Frédéric

Abstract excerpt

BACKGROUND: Autoimmune lymphoproliferative syndrome (ALPS) is characterized by chronic nonmalignant lymphoproliferation, accumulation of double-negative T cells, hypergammaglobulinemia G and A, and autoimmune cytopenia. OBJECTIVES: Although mostly associated with FAS mutations, different genetic defects leading to impaired apoptosis have been described in patients with ALPS, including the FAS ligand gene (FASLG)...

Topics

Autoimmune Lymphoproliferative Syndrome
Fas Ligand Protein
Homozygote
Humans
Infant
Male
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 22857792
DOI: 10.1016/j.jaci.2012.06.011
PMCID: PMC3824280

Genes

FAS
FASLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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