Overall, subjects included healthy volunteers of different ages (2 months to 87 years) and patients with different pathological conditions, including SLE, primary biliary cholangitis (PBC), colorectal adenoma and carcinoma (CRC), celiac disease (CD), congenital heart disease, atopic dermatitis, hepatitis C virus infection, rheumatoid arthritis, and primary immune thrombocytopenia, as well as in humanized NOD-scid-IL2R gamma (null) mice. The gene discussed is IL2RA; the disease is primary biliary cholangitis.