X linked hyper-IgM (XHIM) syndrome is a primary immunodeficiency caused by mutations in the tumour necrosis factor superfamily 5 gene, TNFSF5, also known as the CD40 ligand (CD40L) or CD154 gene. Patients often present with recurrent infections, and confirmation of a diagnosis of XHIM enables appropriate therapeutic interventions, including replacement immunoglobulin, antibiotics, and bone marrow transplantation.
Laboratory MUST be contacted before sample is taken (03) 364 0413. 1 week's notice is required.
Patient sample: 1 mL Heparin from pt + healthy unrelated ctrl
Paediatric sample: 0.5 mL Heparin from pt + healthy unrelated ctrl
Ambient (8 - 24 degrees Celsius)
Ambient temperature within 24h.
– Normal expression
– Weak expression
– Absent expression
Whole blood is incubated overnight with PMA (phorbol 12-myristate 13-acetate) and PHA (phytohaemagglutinin-L) to stimulate lymphocytes, which are then stained with the appropriate antibodies and the red blood cells lysed. Flow cytometry is used to determine whether CD40L is expressed on the activated lymphocytes.
$378.89 (Exclusive of GST)
Lymphocytes are also checked for CD25 levels to ensure adequate stimulation following incubation with PMA and PHA.