Wiskott‐Aldrich syndrome: a comprehensive review
Top Cited Papers
- 25 March 2013
- journal article
- review article
- Published by Wiley in Annals of the New York Academy of Sciences
- Vol. 1285 (1), 26-43
- https://doi.org/10.1111/nyas.12049
Abstract
Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by microthrombocytopenia, eczema, recurrent infections, and an increased incidence of autoimmunity and malignancies. The disease is caused by mutations in the WAS gene expressed exclusively in hematopoietic cells. WAS protein (WASp) is a multidomain protein that exists in complex with several partners that play important roles in its function. WASp belongs to a family of proteins that relay signals from the surface of the cell to the actin cytoskeleton. Mutations in the WAS gene have various effects on the level of WASp, which, in turn, correlates with the severity of the disease. In addition to WAS, mutations in the WAS gene can result in the mild variant X-linked thrombocytopenia, or in X-linked neutropenia, characterized by neutropenia with myelodysplasia. The absence of functional WASp leads to a severe clinical phenotype that can result in death if not diagnosed and treated early in life. The treatment of choice with the best outcome is hematopoietic stem cell transplantation, preferably from a matched related donor.Keywords
This publication has 121 references indexed in Scilit:
- Preclinical Safety and Efficacy of Human CD34+ Cells Transduced With Lentiviral Vector for the Treatment of Wiskott-Aldrich SyndromeMolecular Therapy, 2013
- Development of IgA nephropathy-like glomerulonephritis associated with Wiskott–Aldrich syndrome protein deficiencyClinical Immunology, 2012
- Dendritic cell functional improvement in a preclinical model of lentiviral-mediated gene therapy for Wiskott–Aldrich syndromeGene Therapy, 2011
- A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP bindingJournal of Allergy and Clinical Immunology, 2011
- Hematopoietic Cell Transplantation for Wiskott-Aldrich Syndrome: Advances in Biology and Future Directions for TreatmentImmunology and Allergy Clinics of North America, 2010
- Antiplatelet antibodies in WASP(−) mice correlate with evidence of increased in vivo platelet consumptionExperimental Hematology, 2009
- Insertional Transformation of Hematopoietic Cells by Self-inactivating Lentiviral and Gammaretroviral VectorsMolecular Therapy, 2009
- WHAMM Is an Arp2/3 Complex Activator That Binds Microtubules and Functions in ER to Golgi TransportCell, 2008
- Rapid platelet turnover in WASP(−) mice correlates with increased ex vivo phagocytosis of opsonized WASP(−) plateletsExperimental Hematology, 2008
- Impaired in vitro regulatory T cell function associated with Wiskott–Aldrich syndromeClinical Immunology, 2007