Clinical Flow Cytometric Screening of SAP and XIAP Expression Accurately Identifies Patients with<i>SH2D1A</i>and<i>XIAP/BIRC4</i>Mutations

Abstract

X-linked lymphoproliferative disease is caused by mutations in 2 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.