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Children's Cincinnati, XIAP Protein Expression (XLP2) (if male patient)
MessageCollect at NMCP only Mon-Thursday by 1200
Test Code
NMCP030
Alias/See Also
XIAP (XLP2)
Preferred Specimen
3ml EDTA whole blood (purple top)
Minimum Volume
1 ml EDTA
Instructions
Samples should be sent as whole blood at room temperature and received in our laboratory within 24 hours of being drawn. Testing is not performed on weekends and holidays.
Transport Temperature
ambient
Setup Schedule
Monday – Friday 8:00am – 5:30pm (EST)
Clinical Significance
Deficiency of X-linked inhibitor of apoptosis (XIAP), caused by mutations in the BIRC4 gene, is the second most common cause of X-linked lymphoproliferative syndrome (XLP). The most common cause is deficiency of SLAM-associated protein (SAP) caused by mutations in the SH2D1a gene. XLP due to BIRC4 mutation is associated with the development of HLH and other lymphoproliferative disorders, sometimes in association with EBV. XIAP is an intracellular protein expressed in many tissues. To rapidly screen patients for this disorder, patient and normal sample lymphocytes are fixed, permeabilized and stained with a mouse monoclonal antibody against XIAP, followed by secondary PE-conjugated anti-mouse antibody staining. Following intracellular staining, residual PE conjugated anti-mouse antibody is blocked, followed by lymphocyte surface marker staining. Samples are analyzed by five-color flow cytometry, and XIAP expression is measured in the CD4+ and CD8+ T cells, NK cells and B cells.
