Stephen E. Straus NIAID/NIH Bethesda, MD USA
Powerful new insights into the cellular and genetic basis for autoimmune disease have been afforded through the recognition and study of a remarkable experiment of nature, the illness known as autoimmune lymphoproliferative syndrome (ALPS).
This is a disorder of young children with chronic splenomegaly, adenopathy, autoimmune cytopenias and an increased risk of lymphoma, who have been shown to inherit mutations in either of 4 genes whose protein products regulate lymphocyte cell death – apoptosis. Detailed evaluation of over 120 such individuals in my clinic revealed the degree to which normal immune responses, including prevention of autoimmunity, depends on the constant remolding of the lymphocyte repertoire through targeted deletion of cells.
This brief presentation will summarize the clinical features of ALPS, its molecular pathogenesis and treatment, and emphasize it as a model for better explaining and comprehending common autoimmune conditions.
תגובות רוצה להצטרף לדיון?
יש להתחבר כדי להגיב.
התחבראין תגובות עדיין. היה הראשון להגיב!