Abstract
Wiskott-Aldrich syndrome (WAS) is characterized by a triad of eczema, thrombocytopenia, and immunodeficiency
Microthrombocytopenia is an important clinical clue to the diagnosis of WAS
Quantification of intracytoplasmic expression of the WASp protein serves as a rapid and inexpensive screening test for WAS
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Notarangelo LDMC, Ochs HD. Wiskott-Aldrich syndrome. Curr Opin Hematol. 2008;15(1):30-(6).
Ochs HD, Thrasher AJ. The Wiskott-Aldrich syndrome. J Allergy Clin Immunol. 2006 Apr;117(4):725–38.
Candotti F. Clinical manifestations and pathophysiological mechanisms of the Wiskott-Aldrich syndrome. J Clin Immunol. 2018;38(1):13–27.
Imai K, Nonoyama S, Ochs HD. WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol. 2003;3(6):427–36.
Ochs HD, Filipovich AH, Veys P, Cowan MJ, Kapoor N. Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant. 2009;15(1 Suppl):84–90.
Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, Aruffo A, Ochs HD. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood. 1997;90(7):2680–9.
Outcomes after allogeneic transplant in patients with Wiskott-Aldrich syndrome. Biol Blood Marrow Transplant J Am Soc Blood Marrow Transplant. 2017.
Worth AJJTA. Current and emerging treatment options for Wiskott-Aldrich syndrome. Expert Rev Clin Immunol. 2015;11(9):1015–32.
Advances of gene therapy for primary immunodeficiencies. F1000Res. 2016;5.
Hacein-Bey AS, Gaspar H, Blondeau J, Caccavelli L, Charrier S, Buckland K. Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome. JAMA. 2015;313(15):1550–63.
Worth A, Thrasher A. Current and emerging treatment options for Wiskott-Aldrich syndrome. Expert Rev Clin Immunol. 2015;11(9):1015–32.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer Nature Switzerland AG
About this chapter
Cite this chapter
Pilania, R.K., Rekhi, R., Suri, D. (2019). Bloody Diarrhea. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_129
Download citation
DOI: https://doi.org/10.1007/978-3-030-21262-9_129
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-21261-2
Online ISBN: 978-3-030-21262-9
eBook Packages: MedicineMedicine (R0)