Article
Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation.
Bone marrow transplantation - 1 Aug 1998
Sleight B J, Prasad V S, DeLaat C, Steele P, Ballard E, Arceci R J, Sidman C L
Abstract excerpt
This report describes a child with a severe phenotype of autoimmune lymphoproliferative syndrome (ALPS) who developed progressive disease requiring stem cell transplantation. This severe form of ALPS was associated with a novel Fas gene splice site mutation that resulted in functional deletion of...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Autoimmune Diseases
- Base Sequence
- Bone Marrow Transplantation
- Child, Preschool
- Humans
- Lymphoproliferative Disorders
- Male
- Molecular Sequence Data
- Mutation
- Treatment Outcome
- fas Receptor