As part of our research program we routinely test clinical samples for particular molecules that can also be informative to clinical care. For sample testing or for more information, please contact us.
Adenosine Deaminase 2 Activity
Adenosine deaminase 2 is an extracellular growth factor and enzyme that breaks down the molecules adenosine and 2’-deoxyadenosine. A “deficiency in ADA2 (DADA2)” causes abnormal function of organs, tissues and particularly blood vessels which can be life threatening.
We measure ADA2 concentration (Aviva BioSystems) and enzymatic activity (Diazyme Laboratories) in plasma or sera compared to in-house established normative ranges for healthy children.
Type I Interferon (IFN) Score
Type I interferons (IFN) have important roles in many immune-mediated inflammatory diseases (IMIDs) and are a relatively new therapeutic target.
To infer Type I IFN activity, we measure the relative expression of six interferon-stimulated genes (ISGs) in whole blood (collected in Tempus or PAXGene RNA tubes) and calculate an interferon score as per methods by Rice et. al. J. Clin. Immunol. (2017) 37: 123-32.
COPA is a rare, genetic, immune-mediated disorder that can affect multiple systems of the body, especially the lungs, kidneys, and joints.
It has features of both autoimmunity and autoinflamamtion with abnormal functioning of the immune system and the presence of specific autoantibodies. We test for known mutations in the COPA gene.
Reference: Watkin et. al. Nat Genet (2015) 47(6): 654.
Anti-Neutrophil Cytoplasmic Antibodies (ANCA) Titers
ANCA are autoantibodies, mostly IgG, often present in individuals with autoimmune vasculitis. The antibodies are directed towards neutrophil proteins proteinase 3 and/or myeloperoxidase.
We perform enzyme linked immunoassays (ELISA) on human sera to establish titers (U/mL) of anti-PR3 (Orgentec), anti-MPO (BioRad Laboratories) antibodies and anti-LAMP2 (in-house assay) antibodies.