Angela Lis, Lauren Snowdon, Kyle Downey
Lessons Learned After Integrating the Five Steps of Evidence-Based Practice Into a Doctor of Physical Therapy Curriculum
Journal, physical therapy education
wiskottaldrich syndrome rare xlinked inborn error immunity characterized microthrombocytopenia infections eczema increased predisposition develop autoimmunity malignancy flow cytometric assay determining protein wasp rapid costeffective tool detecting patients however studies described wasp expression female carriers carriers clinically asymptomatic active screening female family members helps identify female carriers distinguish de novo mutations select appropriate donor prior curative stem cell transplantation study undertaken evaluate diagnostic capability flow cytometrybased wasp expression peripheral blood cells identify carriers compare wasp expression different blood cell lineages female patients heterozygous gene enrolled study conducted pediatric allergy immunology unit advanced pediatric centre post graduate institute medical education research chandigarh india flow cytometric assessment wasp expression lymphocytes monocytes neutrophils carried compared healthy control affected patients results expressed delta median fluorescence intensity mfi well stain index si ratio mfi patient mfi control thirteen mothers two sisters genetically confirmed patients enrolled study enrolled females clinically asymptomatic microthrombocytopenia low wasp expression si 1 seen lymphocytes monocytes 10 666 carriers females variants proximal exons exons 1 2 found lesser expression distal exons 312 variants flow cytometry rapid easily available costeffective tool wasp estimation lymphocytes followed monocytes best cell lineages wasp estimation carrier females however genetic testing remains gold standard carrier females variants distal exons may normal wasp expression