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Article

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

Journal of pediatric hematology/oncology - 1 Mar 2021

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

Abstract excerpt

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....

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Identifiers

PMID: 32287099
DOI: 10.1097/MPH.0000000000001790

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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