The DOI matches its Crossref record; 190 of the 190 references it cites were found in a registry or an index.
Wiskott‐Aldrich syndrome: a comprehensive review
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.
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Levitt, D., & Levitt, M. (2016) · International Journal of General Medicine · doi:10.2147/ijgm.s102819 · Cited by 763
He, B., Hoang, T. K., Wang, T., Ferris, M., Taylor, C. M., Tian, X., Luo, M., Tran, D. Q., Zhou, J., Tatevian, N., et al. (2017) · Journal of Experimental Medicine · doi:10.1084/jem.20160961 · Cited by 196
WASP family proteins: Molecular mechanisms and implications in human disease
Kramer, D. A., Piper, H. K., & Chen, B. (2022) · European Journal of Cell Biology · doi:10.1016/j.ejcb.2022.151244 · Cited by 57
Campellone, K. G., Lebek, N. M., & King, V. L. (2023) · European Journal of Cell Biology · doi:10.1016/j.ejcb.2023.151301 · Cited by 50
The Role of WAVE2 Signaling in Cancer
Rana, P. S., Alkrekshi, A., Wang, W., Markovic, V., & Sossey-Alaoui, K. (2021) · Biomedicines · doi:10.3390/biomedicines9091217 · Cited by 25
Metadata
- Authors
- Massaad, M. J., Ramesh, N., & Geha, R. S.
- Venue
- Annals of the New York Academy of Sciences
- Publisher
- Wiley
- Published
- 2013-03-25
- Volume
- 1285
- Issue
- 1
- Pages
- 26-43
- ISSN
- 0077-8923 (ISSN-L)
- 1749-6632
- OpenAlex
- W1907132844
- Cited by
- 349
- References
- 190
- FWCI
- 13.84
- Type
- journal article
- Language
- en
- Open access
- closed
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