Article
Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.
Blood - 1 Feb 1997
Bettinardi A, Brugnoni D, Quiròs-Roldan E, Malagoli A, La Grutta S, Correra A, Notarangelo L D
Abstract excerpt
Programmed cell death (or apoptosis) is a physiological process essential to the normal development and homeostatic maintenance of the immune system. The Fas/Apo-1 receptor plays a crucial role in the regulation of apoptosis, as demonstrated by lymphoproliferation in MRL-lpr/lpr mice and by the r...
Topics
- Adolescent
- Antigens, Differentiation, T-Lymphocyte
- Apoptosis
- Autoimmune Diseases
- Biomarkers
- Child
- Child, Preschool
- Humans
- Immunophenotyping
- Lymphocyte Activation
- Lymphocytes
- Lymphoproliferative Disorders
- Male
- Mutation
- Pedigree
- Solubility
- Syndrome
- T-Lymphocytes