Article
A rapid ex vivo clinical diagnostic assay for fas receptor-induced T lymphocyte apoptosis.
Journal of clinical immunology - 1 Feb 2013
Lo Bernice, Ramaswamy Madhu, Davis Joie, Price Susan, Rao V Koneti, Siegel Richard M, Lenardo Michael J
Abstract excerpt
Deleterious mutations in genes involved in the Fas apoptosis pathway lead to Autoimmune Lymphoproliferative Syndrome (ALPS). Demonstration of an apoptosis defect is critical for the diagnosis and study of ALPS. The traditional in vitro apoptosis assay, however, requires a week of experimental procedures. Here, we show that defects in Fas-induced apoptosis in PBMCs can be evaluated directly ex vivo using...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Apoptosis
- Autoimmune Lymphoproliferative Syndrome
- Child
- Child, Preschool
- Cytotoxicity Tests, Immunologic
- Flow Cytometry
- Humans