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Title of Journal: J Clin Immunol

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Abbravation: Journal of Clinical Immunology

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Springer US

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DOI

10.1016/0022-4804(75)90101-8

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1573-2592

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Presenting features and platelet anomalies in WAS

Authors: Christo Tsilifis Andrew R Gennery Andrew Cant
Publish Date: 2016/03/07
Volume: 36, Issue: 4, Pages: 354-356
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Abstract

In 2011 Moratto et al 1 identified age at haematopoietic stem cell transplantation HSCT as a risk modifier for complications in WiskottAldrich syndrome WAS of note complications appear to be 15 times more likely in children transplanted at ages 2–5 compared to younger than 2 RR = 153 CI 090–258 P = 0130 This reinforces the importance of prompt recognition diagnosis and assessment for HSCT in patients with suspected WASWe evaluated the presenting features in boys with WAS mutations transplanted at the Great North Childrens’ Hospital NewcastleuponTyne between 1989 and 2015 in order to identify any delay in diagnosis and causative factors including misdiagnosis and clarify the role of mean platelet volume in making a diagnosis of WAS We sought to identify key discriminating diagnostic features in order to aid timely diagnosis and transplantation of these patients

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