1. A novel mutation in Wiskott-Aldrich gene manifesting as macrothrombocytopenia and neutropenia
- Author
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Prerna Mewawalla, Mais Arwani, Abdullah Haddad, and Daniel Lee
- Subjects
Male ,Neutropenia ,Adolescent ,Unusual Association of Diseases/Symptoms ,030204 cardiovascular system & hematology ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Gene ,business.industry ,Genetic Diseases, X-Linked ,General Medicine ,medicine.disease ,Phenotype ,Thrombocytopenia ,Wiskott-Aldrich Syndrome ,Transplantation ,Haematopoiesis ,030220 oncology & carcinogenesis ,Mutation (genetic algorithm) ,Immunology ,Mutation ,Stem cell ,business ,Novel mutation ,Wiskott-Aldrich Syndrome Protein - Abstract
Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder, described as a clinical triad of microthrombocytopenia, eczema and recurrent infections. Different mutations in WAS gene have been identified, resulting in various phenotypes and a broad range of disease severity, ranging from classic WAS to X-linked thrombocytopenia and X-linked neutropenia. WAS in some cases can be fatal without haematopoietic stem cell transplantation early in life. In this particular case, we present a novel mutation with a unique presentation. An 18-year-old man incidentally found to have macrothrombocytopenia and neutropenia at 16 years of age later found to be hemizygous for c. 869T>C (p.Ile290Thr) mutation in WAS gene. The late presentation, absence of other manifestations of WAS and presence of macrothrombocytopenia, rather than microthrombocytopenia, which is usually a characteristic finding in WAS, misled the initial diagnosis. On review of literature, this mutation has not been reported as causing WAS.
- Published
- 2018