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Albert, M.H.* ; Bittner, T.C.* ; Nonoyama, S.* ; Notarangelo, L.D.* ; Burns, S.* ; Imai, K.* ; Espanol, T.* ; Fasth, A.* ; Pellier, I.* ; Strauss, G.* ; Morio, T.* ; Gathmann, B.* ; Noordzij, J.G.* ; Fillat, C.* ; Hoenig, M.* ; Nathrath, M. ; Meindl, A.* ; Pagel, P.* ; Wintergerst, U.* ; Fischer, A.* ; Thrasher, A.J.* ; Belohradsky, B.H.* ; Ochs, H.D.*

X-linked thrombocytopenia (XLT) due to WAS mutations: Clinical characteristics, long-term outcome, and treatment options.

Blood 115, 3231-3238 (2010)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter wiskott-aldrich-syndrome; bone-marrow transplantation; syndrome protein gene; wasp gene; congenital neutropenia; splenectomy; therapy; autoimmunity; expression; management
Sprache englisch
Veröffentlichungsjahr 2010
HGF-Berichtsjahr 2010
ISSN (print) / ISBN 0006-4971
e-ISSN 1528-0020
Zeitschrift Blood
Quellenangaben Band: 115, Heft: 16, Seiten: 3231-3238 Artikelnummer: , Supplement: ,
Verlag American Society of Hematology
Begutachtungsstatus Peer reviewed
Institut(e) CCG Osteosarcoma (PATH-KOS)
POF Topic(s) 30504 - Mechanisms of Genetic and Environmental Influences on Health and Disease
Forschungsfeld(er) Enabling and Novel Technologies
PSP-Element(e) G-520800-001
PubMed ID 20173115
DOI 10.1182/blood-2009-09-239087
Erfassungsdatum 2010-12-31
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