Wiskott-Aldrich syndrome: Description of a new gene mutation with normal platelet volume

Leila Yoonessi, Inderpal Randhawa, Eliezer Nussbaum, Samah Saharti, Paul Do, Terry Chin, Theodore Zwerdling

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by an increased incidence of autoimmunity, malignancy, microthrombocytes with thrombocytopenia, eczema, and recurrent infections. In this case report, we present a novel mutation, hemizygous for c.1125-1129delTGGAC mutation in the WAS gene, and a unique clinical presentation. Our patient was initially diagnosed with a milk protein allergy after presenting with a lower gastrointestinal bleed, leukopenia, and thrombocytopenia with normal platelet volume. However, signs of vasculitis and detection of microthrombocytes required additional testing and consideration of WAS. This case report illustrates the importance of retaining a high index of clinical suspicion despite normal platelet volume, as well as adding to the growing number of known mutations associated with WAS.

Original languageEnglish (US)
Pages (from-to)515-518
Number of pages4
JournalJournal of Pediatric Hematology/Oncology
Volume37
Issue number7
StatePublished - Oct 1 2015
Externally publishedYes

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Keywords

  • New mutation
  • Normal platelet volume
  • Wiskott-Aldrich syndrome

ASJC Scopus subject areas

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

Cite this

Yoonessi, L., Randhawa, I., Nussbaum, E., Saharti, S., Do, P., Chin, T., & Zwerdling, T. (2015). Wiskott-Aldrich syndrome: Description of a new gene mutation with normal platelet volume. Journal of Pediatric Hematology/Oncology, 37(7), 515-518.