Article
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.
Cell - 16 Jun 1995
Fisher G H, Rosenberg F J, Straus S E, Dale J K, Middleton L A, Lin A Y, Strober W, Lenardo M J, Puck J M
Abstract excerpt
Five unrelated children are described with a rare autoimmune lymphoproliferative syndrome (ALPS) characterized by massive nonmalignant lymphadenopathy, autoimmune phenomena, and expanded populations of TCR-CD3+CD4-CD8- lymphocytes. These findings, suggesting a genetic defect in the ability of T l...
Topics
- Antigens, Surface
- Apoptosis
- Autoimmune Diseases
- Base Sequence
- Child, Preschool
- DNA Primers
- DNA, Complementary
- Female
- Genes, Dominant
- Heterozygote
- Humans
- Infant
- Lymphoproliferative Disorders
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype