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.
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Published In
LymphoSign Journal
Volume 8 • Number 3 • September 2021
Pages: 94 - 98
History
Received: 9 August 2021
Accepted: 17 August 2021
Accepted manuscript online: 20 August 2021
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© 2021.
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JennyGarkaby and JuliaUpton. 2021. Wiskott-Aldrich syndrome caused by a novel mutation in the WAS gene and presenting with a mild phenotype. LymphoSign Journal.
8(3): 94-98. https://doi.org/10.14785/lymphosign-2021-0022
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