The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.
Frédéric Rieux-LaucatAude Magérus-ChatinetBénédicte NevenPublished in: Journal of clinical immunology (2018)
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.
Keyphrases
- cell death
- immune response
- multiple sclerosis
- oxidative stress
- end stage renal disease
- cell cycle arrest
- endoplasmic reticulum stress
- epstein barr virus
- copy number
- genome wide
- ejection fraction
- drug induced
- newly diagnosed
- poor prognosis
- chronic kidney disease
- case report
- small molecule
- peritoneal dialysis
- induced apoptosis
- dendritic cells
- high throughput
- dna repair
- cell proliferation
- diffuse large b cell lymphoma
- anti inflammatory
- health information
- inflammatory response
- long non coding rna
- patient reported