Autoimmune diseases are chronic conditions that often occur in individuals with genetic predispositions toward that disease. The pathological mechanisms that lead to onset of disease vary and are not fully understood by modern science.
Autoimmune diseases, such as celiac disease, lupus, and multiple sclerosis, are all characterized by the inappropriate inflammation and damage that result when immune system activity is directed at healthy cells. Peripheral blood mononuclear cells (PBMCs) are in many ways an ideal starting material for studying autoimmune disease pathology; they are critical components of the immune system which can be used to isolate a variety of immune cell types, and they are relatively easy to source.
PBMCs undergo characteristic changes in various disease states and represent a way to monitor disease progression and understand disease pathology. While the various autoimmune diseases display different pathologies, they also have commonalities. Scientists have found that individuals with one autoimmune disease are at higher risk for developing additional immune pathologies , and that similar biological pathways are affected in related autoimmune conditions. Environmental factors also contribute to risk and can trigger autoimmune disease in those with a genetic predisposition.
Transcriptomics, the science of analyzing the entire set of RNA transcripts produced by a cell or population of cells, has become an extremely useful tool for understanding how immune cells change during disease progression. Examining changes in PBMC gene expression enables researchers to better understand how disease pathology is triggered and which specific immune cell subsets may be involved. A better understanding of disease-specific autoimmune changes can also help scientists identify genes and proteins that can be targeted to therapeutic effect.
Celiac disease is a prime example of the benefits of analyzing changes in PBMC gene expression. The disease is strongly linked to the presence of specific human leukocyte antigen (HLA) types, HLA-DQ2.5, and HLA-DQ8. HLA’s are antigens expressed on the surface of immune cells which help regulate the immune system. Despite the well-established connection between celiac disease and specific antigens, only 1% of people who display these HLA types will go on to develop celiac disease.
PBMC gene expression analysis is helping scientists gain insight into how and why celiac disease develops. In a recent study , scientists used PBMC transcriptome analysis to identify which biological pathways were triggered by short-term gluten exposure in patients with celiac disease versus healthy donors. They discovered significant differences in several biological pathways, including those controlling cytokine receptor interactions and fatty acid metabolism. Interestingly, there were also changes in olfactory pathways, which control our sense of smell. Olfactory disruption has been reported in other autoimmune diseases, such as multiple sclerosis, and in COVID-19, which displays striking similarities to autoimmune disease.
PBMC transcriptome analysis has also been instrumental in unlocking important disease pathways in other autoimmune diseases. Lupus is a complex autoimmune disease whose pathological mechanisms remain largely unknown despite years of research. A recent study in the journal Nature Immunology focused on the use of healthy and disease-state PBMC analysis to map lupus gene expression at the single-cell level, then correlate the results to disease severity.  The study found that increased expression of interferon-stimulated genes was highly correlated with disease severity.
Access to these disease-state immune cells provides scientists with a critical tool to survey disease-specific changes in a wide variety of immune cell types. Cellero provides researchers with an impressive selection of autoimmune-related disease-state PBMC, including the following widely studied autoimmune conditions:
- Celiac Disease PBMCs – Celiac Disease is an immune response to gluten, a protein component of wheat rich in proline and glutamine residues. Antibodies specific for transglutaminase are commonly found in the serum of Celiac patients and used in diagnosing Celiac Disease. PBMCs are available in vials containing 5-10M or 50-100M cells. All PBMC collections are tested for viability and functional response.
- SLE (Lupus) PBMC – Systemic Lupus Erythematosus is a chronic inflammatory autoimmune disease with no known cause or cure. PBMCs are available in vials containing 5-10M, 20-50M, or 50-100M cells. All PBMC collections are tested for viability and functional response.
- Type-1 Diabetes PBMCs –Type 1 diabetes, characterized by the loss of beta cells in the pancreas, affects approximately 1.25 million Americans. The death of these beta cells is widely believed to be the result of an autoimmune process. PBMCs are available in vials containing 5-10M or 20-50M cells. All PBMC collections are tested for viability and functional response.
- Ankylosing Spondylitis PBMCs – Ankylosing spondylitis is a progressive inflammatory disease that attacks bone-ligament junctures; most often those at the lower spine, hips, and shoulders. PBMCs are available in vials containing 5-10M or 20-50M cells. All PBMC collections are tested for viability and functional response.
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- Cojocaru M., et al. Multiple autoimmune syndrome. Maedica (Bucur). 5(2): 132–134. Apr 2010.
- Yohannes D. A., et al. Effects of In VivoGluten Challenge on PBMC Gene Expression Profiles in Diet Treated Celiac Disease. Frontiers in Immunology. Dec 2020.
- Nehar-Belaid D., et al. Mapping systemic lupus erythematosus heterogeneity at the single-cell level. Nature Immunology. 21; 1094–1106 Aug 2020.