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J Clin Immunol. 2018 Jun 17. doi: 10.1007/s10875-018-0523-x. [Epub ahead of print]

The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.

Author information

1
Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163-Institut Imagine, 24 boulevard du Montparnasse, 75015, Paris, France. frederic.rieux-laucat@inserm.fr.
2
Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France. frederic.rieux-laucat@inserm.fr.
3
Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163-Institut Imagine, 24 boulevard du Montparnasse, 75015, Paris, France.
4
Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
5
Paediatric Immuno-Haematology and Rheumatology Department, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, 75015, Paris, France.

Abstract

The autoimmune lymphoproliferative syndrome (ALPS) is a non-malignant and non-infectious uncontrolled proliferation of lymphocytes accompanied by autoimmune cytopenia. The genetic etiology of the ALPS was described in 1995 by the discovery of the FAS gene mutations. The related apoptosis defect accounts for the accumulation of autoreactive lymphocytes as well as for specific clinical and biological features that distinguish the ALPS-FAS from other monogenic defects of this apoptosis pathway, such as FADD and CASPASE 8 deficiencies. The ALPS-FAS was the first description of a monogenic cause of autoimmunity, but its non-Mendelian expression remained elusive until the description of somatic and germline mutations in ALPS patients. The recognition of these genetic diseases brought new information on the role of this apoptotic pathway in controlling the adaptive immune response in humans.

KEYWORDS:

FAS; FASLG; apoptosis; autoimmunity; lymphoproliferation

PMID:
29911256
DOI:
10.1007/s10875-018-0523-x

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