Diagnosing Immunodeficiencies and Immune Dysregulation Syndromes
Developing novel methods to evaluate innate immune responses
The introduction of large-scale profiling platforms has revolutionized medical understanding of the molecular basis for many diseases and has benefited diagnostic medicine in numerous ways. Many advances have been made with respect to diagnostic immunology, yet further challenges still remain. One such challenge relates to the ability to measure functional defects in immunity in humans.
The Torgerson lab is investigating the molecular basis of various immunodeficiencies and immune dysregulation syndromes, including IPEX syndrome and X-linked Hyper IgM syndrome, with the goal of linking clinical phenotypes to genetic genotypes. Once the phenotype-genotype link has been defined, it may be possible to predict clinical outcome based on the presence of specific mutations, and to develop targeted therapeutics for these rare, but well characterized, patient populations.
As the director of the Immunology Diagnostic Laboratory, Dr. Torgerson has been developing methods for diagnostic testing of immunodeficiency diseases. In pursuit of this, next-generation sequencing approaches are being utilized to evaluate the sequence of all known immunodeficiency genes, flow cytometry-based approaches are being used to characterize protein expression and functional defects in the human immune system, and functional testing for immunodeficiency is being performed using a ΦX174 test vaccine. Together, these approaches are expanding the scientific understanding of the molecular basis of immunodeficiencies and defining how patients with different immunodeficiencies (e.g., B cell vs T cell) respond to immune stimulation.
Additional novel methods for measuring defects in the immune response are also under development. Ultimately, expanding the ability to measure these defects may lead to new tests to evaluate immune function and immunodeficiency. Furthermore, the ability to measure changes in immune function may also be beneficial as part of the testing and validation of new immunotherapeutics (biologics, small molecules, etc.) for the treatment of a wide variety of diseases.
Dr. Troy Torgerson's Faces of Research Video
Stage of Development
- Pre-clinical in vitro
- Collaborative research opportunity
- Sponsored research agreement
- Consultation agreement
- Depner M, Fuchs S, Raabe J…Torgerson T, Grimbacher B, et al. The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. Journal of Clinical Immunology. 2015;36(1):73-84.
- Yel L, Rabbat C, Cunningham-Rundles C, Orange J, Torgerson T, et al. A Novel Targeted Screening Tool for Hypogammaglobulinemia: Measurement of Serum Immunoglobulin (IgG, IgM, IgA) Levels from Dried Blood Spots (Ig-DBS Assay). Journal of Clinical Immunology. 2015;35(6):573-582.
- Smith E, Greeley S, Ye H, Torgerson T, et al. Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3. Journal of Pediatric Gastroenterology and Nutrition. 2014:1.
To learn more about partnering with Seattle Children’s Research Institute on this or other projects, please contact: