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Bloody Diarrhea

  • Rakesh Kumar Pilania
  • Rashmi Rekhi
  • Deepti Suri
Chapter

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

Keywords

Wiskott-Aldrich syndrome Eczema Microthrombocytopenia 

References

  1. 1.
    Notarangelo LDMC, Ochs HD. Wiskott-Aldrich syndrome. Curr Opin Hematol. 2008;15(1):30-(6).CrossRefGoogle Scholar
  2. 2.
    Ochs HD, Thrasher AJ. The Wiskott-Aldrich syndrome. J Allergy Clin Immunol. 2006 Apr;117(4):725–38.CrossRefGoogle Scholar
  3. 3.
    Candotti F. Clinical manifestations and pathophysiological mechanisms of the Wiskott-Aldrich syndrome. J Clin Immunol. 2018;38(1):13–27.CrossRefGoogle Scholar
  4. 4.
    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.CrossRefGoogle Scholar
  5. 5.
    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.CrossRefGoogle Scholar
  6. 6.
    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.PubMedPubMedCentralGoogle Scholar
  7. 7.
    Outcomes after allogeneic transplant in patients with Wiskott-Aldrich syndrome. Biol Blood Marrow Transplant J Am Soc Blood Marrow Transplant. 2017.Google Scholar
  8. 8.
    Worth AJJTA. Current and emerging treatment options for Wiskott-Aldrich syndrome. Expert Rev Clin Immunol. 2015;11(9):1015–32.CrossRefGoogle Scholar
  9. 9.
    Advances of gene therapy for primary immunodeficiencies. F1000Res. 2016;5.Google Scholar
  10. 10.
    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.CrossRefGoogle Scholar
  11. 11.
    Worth A, Thrasher A. Current and emerging treatment options for Wiskott-Aldrich syndrome. Expert Rev Clin Immunol. 2015;11(9):1015–32.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Rakesh Kumar Pilania
    • 1
  • Rashmi Rekhi
    • 1
  • Deepti Suri
    • 1
  1. 1.Allergy Immunology Unit, Department of PediatricsAdvanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research (PGIMER)ChandigarhIndia

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