A Novel Mutation Leading to Wiskott-Aldrich Syndrome in an Ethiopian Boy: a Case Report and a Review of Literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-023-01487-7.pdf
Reference25 articles.
1. Suri D, Rikhi R, Jindal AK, Rawat A, Sudhakar M, Vignesh P, et al. Wiskott Aldrich syndrome: a multi-institutional experience from India. 2021; 12:627651. https://doi.org/10.3389/fimmu.2021.627651.
2. Buchbinder D, Nugent DJ, Fillipovich AH. Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments. Appl Clin Genet. 2014;7:55–66. https://doi.org/10.2147/TACG.S58444.
3. Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila F, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020;40(1):66–81. https://doi.org/10.1007/s10875-020-00758-x.
4. Massaad MJ, Ramesh N, Geha RS. Wiskott-Aldrich syndrome: a comprehensive review. Ann N Y Acad Sci. 2013;1285:26–43. https://doi.org/10.1111/nyas.12049.
5. Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood. 2004;104(13):4010–9. https://doi.org/10.1182/blood-2003-05-1592.
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1. Wiskott-Aldrich Syndrome;Advances in Clinical Medicine;2024
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