Autoimmune lymphoproliferative syndrome (ALPS) is a human genetic disorder of lymphocyte apoptosis resulting in an accumulation of lymphocytes and childhood onset chronic lymphadenopathy, splenomegaly, multilineage cytopenias, and an increased risk of B-cell lymphoma. ALPS is caused by mutations in Fas (CD95), Fas ligand and caspase 10.
Laboratory MUST be contacted before sample is taken (03) 364 0413. 1 week's notice is required.
Please collect 5 mL heparinised blood from the patient AND a healthy (unrelated) adult control.
5mL (2ml paed) Heparin(Green) blood from patient+healthy ctrl
Ambient (8 - 24 degrees Celsius)
Send at ambient temperature to arrive within 24 h.
– Normal apoptosis
– Low apoptosis
– Absent apoptosis
This is a two stage assay. Firstly expression of surface Fas (CD95) is stimulated during culture with IL-2 and anti-CD3. Secondly apoptosis is induced using an anti-Fas antibody. Annexin V positive cells are enumerated using flow cytometry.
$369.64 (Exclusive of GST)
This test measures functional Fas (CD95) activity but will not detect somatic Fas mutations, or mutations in Fas ligand (FasL).
Genetic testing for ALPS (sequencing of CD95, FasL, Casp10, Casp8, SH2D1A and promoter regions) is available at Dept of Immunology, Camelia Botnar Laboratories, Great Ormond St. Hospital (contact Kimberly Gilmour Kimberly.Gilmour@gosh.nhs.uk) although there may also be centres in Australia.
Biomarkers from serum (sFasL, Vit B12, IL-18, IL-10) may also be useful in the diagnosis of ALPS1,2. These are not currently available at CHL.
1. Oliveira et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood. 2010 Oct;116:35-40.
2. Caminha et al. Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol. 2010;125:946-949.