Letter to the Editor
Screening for Wiskott-Aldrich syndrome by flow cytometry

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Cited by (15)

  • Eosinophilia Associated With Immune Deficiency

    2022, Journal of Allergy and Clinical Immunology: In Practice
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    Variable immunoglobulin levels with poor polysaccharide vaccine response are common. Determination of WAS protein expression by means of flow cytometry in addition to genetic testing confirms the diagnosis.23 The initial management often includes advanced supportive care, immunoglobulin substitution, and anti-infective prophylaxis.

  • Inborn errors of immunity associated with characteristic phenotypes

    2021, Jornal de Pediatria
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    Megakaryocytic dysfunction is suspected to be a hypothesis, leading to the formation of small and defective platelets, associated with their increased destruction in the spleen.5,6 The complete absence of the protein leads to a marked function defect in multiple hematopoietic cell lines, resulting in thrombocytopenia with small platelets and progressive lymphopenia with abnormal lymphoid and myeloid functions, which is classified as the “classic” form of the disease.1,6 The milder spectrums of the disease are X-linked thrombocytopenia (XLT) and X-linked neutropenia.3

  • Laboratory Assays of Immune Cell Function in Immunodeficiencies

    2019, Clinics in Laboratory Medicine
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    The WAS gene product is a cytoplasmic protein involved in signaling and regulation of the actin cytoskeleton.26 Flow cytometry can be used to assess the WAS protein (WASp), using an anti-WASp antibody.27,28 A complete absence of WASp is associated with a more severe WAS phenotype.

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Disclosure of potential conflict of interest: Revenue generated by the clinical testing performed in the Diagnostic Immunology Laboratory funds a proportion of the salaries for S. M. Vergamini, L. Neumeier, K. Quinn, T. Ellerhorst, L. Sheppard, C. Gifford, and J. Bleesing, and funds the research, development, and validation of clinical tests. The rest of the authors declare that they have no relevant conflicts of interests.

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