Wiskott-Aldrich syndrome caused by a novel mutation in the WAS gene and presenting with a mild phenotype

Abstract

Background: Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder associated with combined immunodeficiency, microthrombocytopenia, eczema, and an increased risk of autoimmunity and cancer. Aim: To report the clinical presentation, immune features, and genetic mutation in a patient with a novel mutation in the Wiskott-Aldrich syndrome (WAS) gene, causing a mild phenotype of WAS. Methods: The patient’s chart was reviewed. We report the phenotypical and laboratory characteristics of a patient with a mild phenotype of WAS identified by WAS gene sequence analysis. Results: Our patient presented with thrombocytopenia and 3 episodes of otitis media at 24 months of age, with no other significant manifestations suggestive of immunodeficiency or immune dysregulation. A missense mutation was found in exon 12 of the WAS gene, C1498>T, leading to a Trp500Arg amino acid change. Currently, he is 15 years old and remains in good health, free of infections or other complications to date. Conclusion: Genetic analysis is helpful for the diagnosis of WAS; our patient’s mutation was found to cause a mild phenotype. Statement of novelty: We describe a patient with a mild phenotype of WAS with a novel mutation in the WAS gene, thus, expanding the spectrum of WAS gene mutations.