Scaling the tips of the ALPS

Frédéric Rieux-Laucat; Jean M Kanellopoulos; David M Ojcius

doi:10.1016/j.bj.2021.08.002

Scaling the tips of the ALPS

Biomed J. 2021 Aug;44(4):383-387. doi: 10.1016/j.bj.2021.08.002. Epub 2021 Aug 23.

Authors

Frédéric Rieux-Laucat¹, Jean M Kanellopoulos², David M Ojcius³

Affiliations

¹ Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, University of Paris, INSERM UMR 1163, Paris, France. Electronic address: frederic.rieux-laucat@inserm.fr.
² Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Paris-Saclay University, Gif-sur-Yvette, France.
³ Department of Biomedical Sciences, Arthur A. Dugoni School of Dentistry, University of the Pacific, San Francisco, USA.

Abstract

This special issue contains four review articles that describe advances in analysis of mutations responsible for the autoimmune lymphoproliferative syndrome (ALPS). This disease is triggered by a family of mutations in genes involved in the extrinsic apoptotic pathway such as FAS, FASL and CASP10. Advances in sequencing technology have enabled extended genetic testing of patients with various defects in alternative biological have pathways that can cause ALPS-like syndromes. Various gene mutations were identified which affect the CTLA-4 immune checkpoint, the STAT3 pathway and the RAS/MAPK pathway. Tips gleaned from analyses of the different gene mutations involved in ALPS and ALPS-like syndromes are contributing to a better understanding of their functional consequences. Genetic diagnoses of the disease should help us to identify specific therapeutic targets and design personalized treatment for each patient.

Keywords: ALPS; Apoptosis; Autoimmunity; FAS; Genetics; Immunology.

Publication types

Editorial
Introductory Journal Article

MeSH terms

Apoptosis
Autoimmune Lymphoproliferative Syndrome*
Humans
Mutation / genetics
fas Receptor / genetics

Substances

fas Receptor