| X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. | |
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MedLine Citation:
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PMID: 20173115 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A large proportion of patients with mutations in the Wiskott-Aldrich syndrome (WAS) protein gene exhibit the milder phenotype termed X-linked thrombocytopenia (XLT). Whereas stem cell transplantation at an early age is the treatment of choice for patients with WAS, therapeutic options for patients with XLT are controversial. In a retrospective multicenter study we defined the clinical phenotype of XLT and determined the probability of severe disease-related complications in patients older than 2 years with documented WAS gene mutations and mild-to-moderate eczema or mild, infrequent infections. Enrolled were 173 patients (median age, 11.5 years) from 12 countries spanning 2830 patient-years. Serious bleeding episodes occurred in 13.9%, life-threatening infections in 6.9%, autoimmunity in 12.1%, and malignancy in 5.2% of patients. Overall and event-free survival probabilities were not significantly influenced by the type of mutation or intravenous immunoglobulin or antibiotic prophylaxis. Splenectomy resulted in increased risk of severe infections. This analysis of the clinical outcome and molecular basis of patients with XLT shows excellent long-term survival but also a high probability of severe disease-related complications. These observations will allow better decision making when considering treatment options for individual patients with XLT. |
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Authors:
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Michael H Albert; Tanja C Bittner; Shigeaki Nonoyama; Lucia Dora Notarangelo; Siobhan Burns; Kohsuke Imai; Teresa Espanol; Anders Fasth; Isabelle Pellier; Gabriele Strauss; Tomohiro Morio; Benjamin Gathmann; Jeroen G Noordzij; Cristina Fillat; Manfred Hoenig; Michaela Nathrath; Alfons Meindl; Philipp Pagel; Uwe Wintergerst; Alain Fischer; Adrian J Thrasher; Bernd H Belohradsky; Hans D Ochs |
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Publication Detail:
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Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't Date: 2010-02-19 |
Journal Detail:
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Title: Blood Volume: 115 ISSN: 1528-0020 ISO Abbreviation: Blood Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-04-23 Completed Date: 2010-05-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7603509 Medline TA: Blood Country: United States |
Other Details:
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Languages: eng Pagination: 3231-8 Citation Subset: AIM; IM |
Affiliation:
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Dr von Haunersches Kinderspital, Ludwig-Maximilians-Universit?t, Munich, Germany. michael.albert@med.lmu.de |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Aged Autoimmune Diseases / epidemiology, etiology Child Child, Preschool Disease-Free Survival Female Genes, X-Linked Hemorrhage / epidemiology, etiology Humans Incidence Infection / epidemiology, etiology Kaplan-Meiers Estimate Male Middle Aged Mutation Neoplasms / epidemiology, etiology Phenotype Retrospective Studies Thrombocytopenia / complications*, genetics, mortality* Wiskott-Aldrich Syndrome Protein / genetics* Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Wiskott-Aldrich Syndrome Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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