Bloody Stool and Recurrent Infections

  • Sevgi Köstel Bal
  • Figen Doğu


  • Mutations in the WAS gene can result in either of the three main phenotypes: classic Wiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia (XLT), and X-linked neutropenia

  • WAS/XLT should be considered in every male presenting with bleeding associated with congenital or early-onset thrombocytopenia and small platelets


Wiskott-Aldrich syndrome X-linked thrombocytopenia X-linked neutropenia 


  1. 1.
    Candotti F. Clinical manifestations and pathophysiological mechanisms of the Wiskott-Aldrich syndrome. J Clin Immunol. 2018;38(1):13–27.CrossRefGoogle Scholar
  2. 2.
    Ochs HD, Smith CIE, Puck J. Primary immunodeficiency diseases: a molecular and genetic approach. 3rd ed. Oxford; New York: Oxford University Press; 2014.Google Scholar
  3. 3.
    Massaad MJ, Ramesh N, Geha RS. Wiskott-Aldrich syndrome: a comprehensive review. Ann N Y Acad Sci. 2013;1285:26–43.CrossRefGoogle Scholar
  4. 4.
    Kliegman R, Behrman RE, Nelson WE. Nelson textbook of pediatrics. 20th ed. Phialdelphia, PA: Elsevier; 2016.Google Scholar
  5. 5.
    Mantadakis E, Farmaki E. Natural history, pathogenesis, and treatment of Evans syndrome in children. J Pediatr Hematol Oncol. 2017;39(6):413–9.CrossRefGoogle Scholar
  6. 6.
    Shin CR, Kim MO, Li D, Bleesing JJ, Harris R, Mehta P, Jodele S, Jordan MB, Marsh RA, Davies SM, Filipovich AH. Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome. Bone Marrow Transplant. 2012;47(11):1428–35.CrossRefGoogle Scholar
  7. 7.
    Ghosh S, Gaspar HB. Gene therapy approaches to immunodeficiency. Hematol Oncol Clin North Am. 2017;31(5):823–34.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Sevgi Köstel Bal
    • 1
  • Figen Doğu
    • 2
  1. 1.Ankara University School of Medicine, Department of Pediatric Allergy and ImmunologyAnkaraTurkey
  2. 2.Ankara University School of Medicine, Department of Pediatric Immunology and AllergyAnkaraTurkey

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