Clinical Features and Outcomes of 23 Patients with Wiskott- Aldrich Syndrome: A Single-Center Experience

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 cour...

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Main Authors: Şule Haskoloğlu, Ayşenur Öztürk, Gökcan Öztürk, Sevgi Kostel Bal, Candan İslamoğlu, Kübra Baskın, Serdar Ceylaner, Lale Tufan Satıroğlu, Figen Doğu, Aydan İkincioğulları
Format: Article
Language:English
Published: Galenos Publishing House 2020-11-01
Series:Turkish Journal of Hematology
Subjects:
Online Access:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-04864
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author Şule Haskoloğlu
Ayşenur Öztürk
Gökcan Öztürk
Sevgi Kostel Bal
Candan İslamoğlu
Kübra Baskın
Serdar Ceylaner
Lale Tufan Satıroğlu
Figen Doğu
Aydan İkincioğulları
author_facet Şule Haskoloğlu
Ayşenur Öztürk
Gökcan Öztürk
Sevgi Kostel Bal
Candan İslamoğlu
Kübra Baskın
Serdar Ceylaner
Lale Tufan Satıroğlu
Figen Doğu
Aydan İkincioğulları
author_sort Şule Haskoloğlu
collection DOAJ
description 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.
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spelling doaj.art-b2a4303dd604422d8c7f3c088b9c2ad82023-02-15T16:09:47ZengGalenos Publishing HouseTurkish Journal of Hematology1308-52632020-11-0137427128110.4274/tjh.galenos.2020.2020.0334TJH-04864Clinical Features and Outcomes of 23 Patients with Wiskott- Aldrich Syndrome: A Single-Center ExperienceŞule Haskoloğlu0Ayşenur Öztürk1Gökcan Öztürk2Sevgi Kostel Bal3Candan İslamoğlu4Kübra Baskın5Serdar Ceylaner6Lale Tufan Satıroğlu7Figen Doğu8Aydan İkincioğulları9Ankara University School of Medicine, Department of Pediatrics, Division of Immunology and Allergy, Ankara, TurkeyAnkara University School of Medicine, Department of Pediatrics, Division of Genetic Diseases, Ankara, TurkeyAnkara University School of Medicine, Department of Pediatrics, Ankara, TurkeyAnkara University School of Medicine, Department of Pediatrics, Division of Immunology and Allergy, Ankara, TurkeyAnkara University School of Medicine, Department of Pediatrics, Division of Immunology and Allergy, Ankara, TurkeyAnkara University School of Medicine, Department of Pediatrics, Division of Immunology and Allergy, Ankara, TurkeyIntergen Genetic Diagnosis Center, Ankara, TurkeyAnkara University School of Medicine, Department of Pediatrics, Division of Genetic Diseases, Ankara, TurkeyAnkara University School of Medicine, Department of Pediatrics, Division of Immunology and Allergy, Ankara, TurkeyAnkara University School of Medicine, Department of Pediatrics, Division of Immunology and Allergy, Ankara, TurkeyObjective: 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.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-04864wiskott-aldrich syndromehematopoietic stem cell transplantationmicrothrombocytopeniaoutcome
spellingShingle Şule Haskoloğlu
Ayşenur Öztürk
Gökcan Öztürk
Sevgi Kostel Bal
Candan İslamoğlu
Kübra Baskın
Serdar Ceylaner
Lale Tufan Satıroğlu
Figen Doğu
Aydan İkincioğulları
Clinical Features and Outcomes of 23 Patients with Wiskott- Aldrich Syndrome: A Single-Center Experience
Turkish Journal of Hematology
wiskott-aldrich syndrome
hematopoietic stem cell transplantation
microthrombocytopenia
outcome
title Clinical Features and Outcomes of 23 Patients with Wiskott- Aldrich Syndrome: A Single-Center Experience
title_full Clinical Features and Outcomes of 23 Patients with Wiskott- Aldrich Syndrome: A Single-Center Experience
title_fullStr Clinical Features and Outcomes of 23 Patients with Wiskott- Aldrich Syndrome: A Single-Center Experience
title_full_unstemmed Clinical Features and Outcomes of 23 Patients with Wiskott- Aldrich Syndrome: A Single-Center Experience
title_short Clinical Features and Outcomes of 23 Patients with Wiskott- Aldrich Syndrome: A Single-Center Experience
title_sort clinical features and outcomes of 23 patients with wiskott aldrich syndrome a single center experience
topic wiskott-aldrich syndrome
hematopoietic stem cell transplantation
microthrombocytopenia
outcome
url https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-04864
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