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Clinical Features and Outcomes of 23 Patients with Wiskott-Aldrich Syndrome: A Single-Center Experience
- Source :
-
Turkish journal of haematology : official journal of Turkish Society of Haematology [Turk J Haematol] 2020 Nov 19; Vol. 37 (4), pp. 271-281. Date of Electronic Publication: 2020 Aug 19. - Publication Year :
- 2020
-
Abstract
- 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.<br />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.<br />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.<br />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.
- Subjects :
- Adolescent
Biomarkers
Child
Child, Preschool
Combined Modality Therapy
Diagnosis, Differential
Disease Management
Disease Susceptibility
Female
Hematopoietic Stem Cell Transplantation
Humans
Immunoglobulins, Intravenous therapeutic use
Infant
Infant, Newborn
Male
Patient Outcome Assessment
Prognosis
Reinfection etiology
Symptom Assessment
Treatment Outcome
Wiskott-Aldrich Syndrome complications
Wiskott-Aldrich Syndrome etiology
Wiskott-Aldrich Syndrome therapy
Young Adult
Phenotype
Wiskott-Aldrich Syndrome diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1308-5263
- Volume :
- 37
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Turkish journal of haematology : official journal of Turkish Society of Haematology
- Publication Type :
- Academic Journal
- Accession number :
- 32812413
- Full Text :
- https://doi.org/10.4274/tjh.galenos.2020.2020.0334