226
Views
0
CrossRef citations to date
0
Altmetric
Research Article

Two cases of wiskott–Aldrich syndrome in neonates due to gene mutations

, , &
Pages 312-315 | Received 27 Aug 2012, Accepted 19 Nov 2012, Published online: 10 Jan 2013

References

  • Wiskott A. Familiarer, angeborener Morbus Werlhofii? Montasschr Kinderheilkd 1937;68:212–216.
  • Aldrich RA, Steinberg AG, Campbell DC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 1954;13:133–139.
  • Beel K, Cotter MM, Blatny J, A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. Br J Haematol 2009;144:120–126.
  • Albert MH, Bittner TC, Nonoyama S, X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood 2010;115:3231–3238.
  • Thrasher AJ. New insights into the biology of Wiskott-Aldrich syndrome (WAS). Hematology Am Soc Hematol Educ Program 2009:132–138.
  • Ochs HD. Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes. Immunol Res 2009;44:84–88.
  • Ozsahin H, Cavazzana-Calvo M, Notarangelo LD, Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation. Blood 2008;111:439–445.
  • Galy A, Roncarolo MG, Thrasher AJ. Development of lentiviral gene therapy for Wiskott Aldrich syndrome. Expert Opin Biol Ther 2008;8:181–190 .
  • Marangoni F, Bosticardo M, Charrier S, Evidence for long-term efficacy and safety of gene therapy for Wiskott-Aldrich syndrome in preclinical models. Mol Ther 2009;17:1073–1082.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.