1995-2025: A long journey in the ALPS.

Abstract excerpt

The discovery of heterozygous germline mutations in FAS 30 years ago led to an understanding of the pathophysiology associated with familial forms of autoimmune lymphoproliferative syndrome (ALPS). Ten years later, the identification of somatic mutations in FAS was the first description of an acquired mutation in a non-cancerous disease. It was subsequently observed that haploinsufficient germline mutations are...

Topics

Join the communities discussing this publication.

• Autoimmune Lymphoproliferative Syndrome
• Fas-Associated Death Domain Protein
• Fas Ligand Protein
• fas Receptor
• Germ-Line Mutation