The Wiskott-Aldrich syndrome
- PMID: 16630926
- DOI: 10.1016/j.jaci.2006.02.005
The Wiskott-Aldrich syndrome
Abstract
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 and was shown to play an important role in lymphoid development and in the maturation and function of myeloid monocytic cells. Mutations of WASP are located throughout the gene and either inhibit or dysregulate normal WASP function. Analysis of a large patient population demonstrates a phenotype-genotype correlation: classic WAS occurs when WASP is absent, X-linked thrombocytopenia when mutated WASP is expressed, and X-linked neutropenia when missense mutations occur in the Cdc42-binding site. The progress made in dissecting the function of WASP has provided new diagnostic possibilities and has propelled our therapeutic strategies from conservative symptomatic treatment to curative hematopoietic stem cell transplantation and toward gene therapy.
Comment in
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The last 80 years in primary immunodeficiency: how far have we come, how far need we go?J Allergy Clin Immunol. 2006 Apr;117(4):748-52. doi: 10.1016/j.jaci.2006.02.029. J Allergy Clin Immunol. 2006. PMID: 16630928 Review. No abstract available.
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