A unique presentation of Wiskott–Aldrich syndrome in relation to platelet size | Zendy

Patel Payal D. | Zendy; Samanich Joy M. | Zendy; Mitchell William B. | Zendy; Manwani Deepa | Zendy

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A unique presentation of Wiskott–Aldrich syndrome in relation to platelet size

Author(s) -

Patel Payal D.,

Samanich Joy M.,

Mitchell William B.,

Manwani Deepa

Publication year - 2011

Publication title -

pediatric blood and cancer

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.116

H-Index - 105

eISSN - 1545-5017

pISSN - 1545-5009

DOI - 10.1002/pbc.22920

Subject(s) - medicine , wiskott–aldrich syndrome , platelet , presentation (obstetrics) , mean platelet volume , phenotype , mutation , blood cancer , clinical phenotype , immunodeficiency , disease , immunology , cancer , genetics , surgery , gene , immune system , biology

Wiskott–Aldrich Syndrome (WAS) is a triad of immunodeficiency, eczema, and thrombocytopenia. Despite the heterogeneity of genetic and clinical findings, a correlation with small platelet size is routinely observed. Herein we describe a case with a unique phenotype that links normal mean platelet volume with the classic characteristics of this disease. The diagnosis was verified by genetic analysis showing a novel and de novo mutation. Our case illustrates that a high index of suspicion of WAS is warranted even in the setting of normal sized platelets. Pediatr Blood Cancer 2011;56:1127–1129. © 2011 Wiley‐Liss, Inc.

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