Wiskott Aldrich syndrome caused by a novel mutation in WASP gene presenting with a mild phenotype

Abstract

Background: Wiskott–Aldrich syndrome (WAS) is 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 WASP gene causing a mild phenotype of Wiskott Aldrich syndrome Methods: Patient’s chart was reviewed. We report the phenotypical and laboratory characteristics of a patient with a mild phenotype of Wiskott Aldrich syndrome with a novel mutation found by WASP gene sequence analysis. Results: This 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 WASP gene, C1498>T, leading to a Trp500Arg amino acid change. Currently he is 15 years old and remained in good health, free of infections or other complication to date. Conclusion: Genetic analysis is helpful for the diagnosis of WAS patients; our patient’s mutation was found to cause a mild phenotype of WAS. Statement of Novelty: We describe a patient with a mild phenotype of WAS with a novel mutation in the WASP gene, thus, expanding the spectrum of WASP gene mutations.