Article
The Wiskott-Aldrich syndrome.
The Journal of allergy and clinical immunology - 1 Apr 2006
Ochs Hans D, Thrasher Adrian J
Abstract excerpt
The Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder with variable clinical phenotypes that correlate with the type of mutations in the WAS protein (WASP) gene. WASP, a key regulator of actin polymerization in hematopoietic cells, has 5 well-defined domains that are involved in signaling, cell locomotion, and immune synapse formation. WASP facilitates the nuclear translocation of nuclear factor kappaB...
Topics
- Actins
- Autoimmune Diseases
- Cell Communication
- Cell Movement
- Eczema
- Genotype
- Humans
- Male
- Models, Biological
- Mutation
- Neoplasms
- Phenotype
- Signal Transduction