Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment.

@article{Ochs2009WiskottAldrichSD,
  title={Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment.},
  author={Hans D. Ochs and Alexandra H. Filipovich and Paul A. Veys and Morton J Cowan and Neena Kapoor},
  journal={Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation},
  year={2009},
  volume={15 1 Suppl},
  pages={84-90}
}
Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency disorder that has a variable clinical phenotype that correlates with the type of mutation in WASP, the gene encoding the WAS protein (WASP). WASP is a key regulator of actin polymerization in hematopoietic cells and has well-defined domains that are involved in signaling, cell locomotion, and immune synapse formation. Classic WAS often results from mutations that cause the absence of WASP expression, associated with… CONTINUE READING