Clinical features and outcomes of 23 patients with wiskottaldrich syndrome: A single-center experience Wiskott-aldrich sendromlu 23 hastanın klinik özellikleri ve sonuçları: Tek merkez deneyimi


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Haskoloğlu Ş., Öztürk A., Öztürk G., Bal S. K. , İslamoğlu C., Baskın K., ...More

Turkish Journal of Hematology, vol.37, no.4, pp.271-281, 2020 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.4274/tjh.galenos.2020.2020.0334
  • Journal Name: Turkish Journal of Hematology
  • Journal Indexes: Science Citation Index Expanded, Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.271-281
  • Keywords: Wiskott-Aldrich syndrome, Hematopoietic stem cell transplantation, Microthrombocytopenia, Outcome, STEM-CELL TRANSPLANTATION, PROTEIN, MUTATIONS

Abstract

© 2020 by Turkish Society of Hematology.Objective: Wiskott-Aldrich syndrome (WAS) is an X-linked primary immune deficiency characterized by microthrombocytopenia, eczema, and recurrent infections. We aimed to evaluate the clinical features and outcomes of a WAS cohort. Materials and Methods: We retrospectively evaluated the clinical courses, immunological features, treatments, and outcomes in a total of 23 WAS patients together with data related to 11 transplanted cases among them between 1982 and 2019. Results: Before admission, 11 patients (48%) were misdiagnosed with immune thrombocytopenia. WAS scores were mostly 4 or 5. Eleven patients were transplanted and they had an overall survival rate of 100% during a median follow-up period of 8.5 years (range: 8 months to 20 years). Five patients who were not transplanted died at a median of 7 years (range: 2-26 years). Nontransplanted patients had high morbidity due to organ damage, mostly caused by autoimmunity, bleeding, and infections. Two novel mutations were also defined. Conclusion: All male babies with microthrombocytopenia should be evaluated for WAS. Hematopoietic stem cell transplantation should be performed at the earliest age with the best possible donors.