Monozygotic Twin Pair Showing Discordant Phenotype for X-linked Thrombocytopenia and Wiskott–Aldrich Syndrome: a Role for Epigenetics?

  title={Monozygotic Twin Pair Showing Discordant Phenotype for X-linked Thrombocytopenia and Wiskott–Aldrich Syndrome: a Role for Epigenetics?},
  author={David K Buchbinder and Kari Christine Nadeau and Diane J Nugent},
  journal={Journal of Clinical Immunology},
Despite our increasing characterization of the molecular basis for many primary immunodeficiency states, significant heterogeneity in clinical and immunological phenotype exists. Epigenetic alterations have been implicated in the pathogenesis of immune dysregulation and may provide a unique paradigm to help us understand the phenotypic heterogeneity in primary immunodeficiency. The occurrence of X-linked thrombocytopenia (XLT) and Wiskott–Aldrich syndrome (WAS) in monozygotic twins is a rare… 
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An overview of the approach to the diagnosis of Wiskott–Aldrich syndrome as well as the management of its associated complications is provided and advances in curative approaches including the use of alternative donor HSCT for WAS continue to evolve.
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Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
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Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome.
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Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment.
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An analysis of the clinical outcome and molecular basis of patients with XLT shows excellent long-term survival but also a high probability of severe disease-related complications, which will allow better decision making when considering treatment options for individual patients withXLT.
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