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

Payal D. Patel, Joy M. Samanich, William B. Mitchell, Deepa Manwani

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1127-1129
Number of pages3
JournalPediatric Blood and Cancer
Volume56
Issue number7
DOIs
StatePublished - Jul 1 2011

Fingerprint

Wiskott-Aldrich Syndrome
Blood Platelets
Mean Platelet Volume
Genetic Heterogeneity
Eczema
Thrombocytopenia
Phenotype
Mutation

Keywords

  • Mean platelet volume
  • Size
  • Wiskott-Aldrich syndrome

ASJC Scopus subject areas

  • Oncology
  • Pediatrics, Perinatology, and Child Health
  • Hematology

Cite this

A unique presentation of Wiskott-Aldrich syndrome in relation to platelet size. / Patel, Payal D.; Samanich, Joy M.; Mitchell, William B.; Manwani, Deepa.

In: Pediatric Blood and Cancer, Vol. 56, No. 7, 01.07.2011, p. 1127-1129.

Research output: Contribution to journalArticle

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