Abstract
Background
Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder with a variable phenotype.
Case Characteristics
3.5-year-old boy diagnosed with Wiskott-Aldrich syndrome.
Observation
Unusual and persistent thrombocytopenia with increased platelet volume (>10fL). He did not exhibit characteristic clinical and laboratory finding for the syndrome.
Outcome
Maternally inherited causative mutation in the exon 2 of the WAS gene was disclosed.
Message
This is a need for multidisciplinary assessment of patients with congenital or early infantile thrombocytopenia, including testing for mutations of the WAS gene in all unexplained cases even in the absence of characteristic microthrombocytopenia.
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Skoric, D., Dimitrijevic, A., Cuturilo, G. et al. Wiskott-Aldrich syndrome with macrothrombocytopenia. Indian Pediatr 51, 1015–1016 (2014). https://doi.org/10.1007/s13312-014-0550-5
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DOI: https://doi.org/10.1007/s13312-014-0550-5