Article
Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations.
Cytometry. Part B, Clinical cytometry - 1 Jul 2014
Gifford Carrie E, Weingartner Elizabeth, Villanueva Joyce, Johnson Judith, Zhang Kejian, Filipovich Alexandra H, Bleesing Jack J, Marsh Rebecca A
Abstract excerpt
INTRODUCTION: X-linked lymphoproliferative disease is caused by mutations in two genes, SH2D1A and XIAP/BIRC4. Flow cytometric methods have been developed to detect the gene products, SAP and XIAP. However, there is no literature describing the accuracy of flow cytometric screening performed in a clinical lab setting. METHODS: We reviewed the clinical flow cytometric testing results for 656 SAP and 586 XIAP...
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