What's up in the ALPS

Current Opinion in Immunology
F Rieux-Laucat

Abstract

The autoimmune lymphoproliferative syndrome (ALPS) is a non-malignant and non-infectious uncontrolled proliferation of lymphocytes accompanied by autoimmune cytopenia. This clinical entity was recognized in the mid 60s and its genetic etiology was described in 1995 by the discovery of the FAS gene mutations. This 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 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 causes of ALPS such as somatic mutations of RAS or the recently described CTLA-4 insufficiency. The recognition of these genetic diseases brought new information on the regulation of the adaptive immune responses and uncovered new therapeutical targets. Finally, the deciphering the role of somatic mutations may pave the way to the understanding of more common autoimmune diseases.

Citations

Jan 21, 2020·Case Reports in Immunology·Jean-François ViallardFrédéric Rieux-Laucat
Aug 7, 2019·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Tomohiro HoriToshiyuki Fukao
Mar 18, 2020·Genes & Diseases·Ankita SinghAmit Rawat
Nov 18, 2020·International Journal of Environmental Research and Public Health·Francesca BecherucciPaola Romagnani
Dec 29, 2020·Critical Reviews in Clinical Laboratory Sciences·Laura Casamayor-PoloLuis M Allende
Apr 13, 2021·Frontiers in Immunology·Giovanna Flores-MendozaJosé C Crispín
Mar 7, 2019·Joint, Bone, Spine : Revue Du Rhumatisme·François ChassetLaurent Arnaud
Jun 28, 2021·Biomedical Journal·Quentin Riller, Frédéric Rieux-Laucat
Jul 29, 2021·Science Signaling·Ivan K ChinnKirk M Druey
Jul 31, 2021·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Elisabet Matas PérezRebeca Rodríguez Pena
Oct 31, 2021·Journal of Neuroimmune Pharmacology : the Official Journal of the Society on NeuroImmune Pharmacology·Xiaoyu HuangDeqin Geng
Dec 11, 2021·Rheumatology·Keith A SikoraPeter C Grayson

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