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

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