A Novel Mutation in WAS Gene Causing a Phenotypic Presentation of Wiskott-Aldrich Syndrome: A Case Report

Elisa Ochfeld*, Dannielle Grayer, Ruchika Sharma, Jennifer Schneiderman, Lisa Giordano, Melanie Makhija

*Corresponding author for this work

Research output: Contribution to journalArticle

Abstract

Background: Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by immunodeficiency, thrombocytopenia, and atopic dermatitis. Observations: This infant presented at birth with petechiae and bruising, with severe neonatal thrombocytopenia. Genetic testing for WAS revealed a variant of unknown significance hemizygous missense mutation in the WAS gene. This variant has not previously been reported. On the basis of the patient's clinical course including bleeding, infection, abnormal immune evaluation, and dermatologic sequelae, he was diagnosed with WAS and underwent allogeneic hematopoietic stem cell transplantation. Conclusions: We report a novel mutation in the WAS gene that causes a phenotypic presentation of Wiskott-Aldrich Syndrome.

Original languageEnglish (US)
JournalJournal of pediatric hematology/oncology
DOIs
StateAccepted/In press - Jan 1 2020

Keywords

  • Wiskott-Aldrich syndrome
  • hematopoietic stem cell transplant
  • novel genetic mutation

ASJC Scopus subject areas

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

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