Article
The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.
The Journal of clinical investigation - 1 Feb 1999
Vaishnaw A K, Orlinick J R, Chu J L, Krammer P H, Chao M V, Elkon K B
Abstract excerpt
Heterozygous mutations of the receptor CD95 (Fas/Apo-1) are associated with defective lymphocyte apoptosis and a clinical disease characterized by lymphadenopathy, splenomegaly, and systemic autoimmunity. From our cohort of 11 families, we studied eight patients to define the mechanisms responsib...
Topics
- Apoptosis
- Autoimmune Diseases
- Child, Preschool
- Female
- Gene Expression Regulation
- Heterozygote
- Humans
- Lymphatic Diseases
- Male
- Mutation
- Pregnancy
- fas Receptor