Journal of Pediatrics Review

Published by: Kowsar

Wiskott-Aldrich Syndrome With Normal-Sized Platelets in an Eighteen-Month-Old Boy: A Rare Mutation

Jayitri Mazumdar 1 , * , Sumana Kanjilal 1 and Anjan Das 2
Authors Information
1 Department of Pediatrics, Calcutta National Medical College and Hospital, West Bengal University of Health Sciences, Kolkata, India
2 Department of Pathology, Calcutta National Medical College and Hospital, West Bengal University of Health Sciences, Kolkata, India
Article information
  • Journal of Pediatrics Review: July 28, 2015, 3 (2); e417
  • Published Online: July 20, 2015
  • Article Type: Case Report and Review of Literature
  • Received: February 10, 2015
  • Revised: May 30, 2015
  • Accepted: June 7, 2015
  • DOI: 10.17795/jpr-417

To Cite: Mazumdar J, Kanjilal S, Das A. Wiskott-Aldrich Syndrome With Normal-Sized Platelets in an Eighteen-Month-Old Boy: A Rare Mutation, J Pediatr Rev. 2015 ;3(2):e417. doi: 10.17795/jpr-417.

Abstract
Copyright © 2015, Mazandaran University of Medical Sciences.This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Case Presentation
3. Discussion and Review of Literature
Acknowledgements
Footnote
References
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  • 2. Symons M, Derry JM, Karlak B, Jiang S, Lemahieu V, McCormick F, et al. Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Cell. 1996; 84(5): 723-34[PubMed]
  • 3. Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, et al. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet. 1995; 9(4): 414-7[DOI][PubMed]
  • 4. Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr. 1994; 125(6): 876-85
  • 5. Shcherbina A, Rosen FS, Remold-O'Donnell E. WASP levels in platelets and lymphocytes of wiskott-aldrich syndrome patients correlate with cell dysfunction. J Immunol. 1999; 163(11): 6314-20[PubMed]
  • 6. Haddad E, Cramer E, Riviere C, Rameau P, Louache F, Guichard J, et al. The thrombocytopenia of Wiskott Aldrich syndrome is not related to a defect in proplatelet formation. Blood. 1999; 94(2): 509-18[PubMed]
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  • 8. Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, et al. Clinical course of patients with WASP gene mutations. Blood. 2004; 103(2): 456-64[DOI][PubMed]
  • 9. Trifari S, Sitia G, Aiuti A, Scaramuzza S, Marangoni F, Guidotti LG, et al. Defective Th1 cytokine gene transcription in CD4+ and CD8+ T cells from Wiskott-Aldrich syndrome patients. J Immunol. 2006; 177(10): 7451-61[PubMed]
  • 10. Patel PD, Samanich JM, Mitchell WB, Manwani D. A unique presentation of Wiskott-Aldrich syndrome in relation to platelet size. Pediatr Blood Cancer. 2011; 56(7): 1127-9[DOI][PubMed]
  • 11. Skoric D, Dimitrijevic A, Cuturilo G, Ivanovski P. Wiskott-Aldrich syndrome with macrothrombocytopenia. Indian Pediatr. 2014; 51(12): 1015-6[PubMed]
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

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