A novel functional variant activating NFAT in a patient with polyarthritis and a remittent fever.

Background: is a negative regulator of T cell activation and one of the key activators of type I interferon (IFN) and NFκB signaling via non-classical pathways. The upstream single nucleotide polymorphism of (rs2297550-G) is a genome-wide association study risk variant of systemic lupus erythematosus, and is associated with decreased expression in T cells by expression quantitative trait locus analysis.

Case Presentation: A 48-year-old female had a remittent fever, arthritis, and oral ulcers for 20 years.

Machine learning-driven immunophenotypic stratification of mixed connective tissue disease corroborating the clinical heterogeneity.

Objectives: To stratify patients with mixed connective tissue disease (MCTD) based on their immunophenotype.

Methods: We analyzed the immunophenotype and transcriptome of 24 immune cell subsets from patients with MCTD, systemic lupus erythematosus (SLE), idiopathic inflammatory myopathy (IIM), and systemic sclerosis (SSc) from our functional genome database, ImmuNexUT (https://www.immunexut.

B cell receptor repertoire abnormalities in autoimmune disease.

B cells play a crucial role in the immune response and contribute to various autoimmune diseases. Recent studies have revealed abnormalities in the B cell receptor (BCR) repertoire of patients with autoimmune diseases, with distinct features observed among different diseases and B cell subsets. Classically, BCR repertoire was used as an identifier of distinct antigen-specific clonotypes, but the recent advancement of analyzing large-scale repertoire has enabled us to use it as a tool for characterizing cellular biology.

Age-associated CD4 T cells with B cell-promoting functions are regulated by ZEB2 in autoimmunity.

Aging is a significant risk factor for autoimmunity, and many autoimmune diseases tend to onset during adulthood. We conducted an extensive analysis of CD4 T cell subsets from 354 patients with autoimmune disease and healthy controls via flow cytometry and bulk RNA sequencing. As a result, we identified a distinct CXCR3CD4 effector memory T cell subset that expands with age, which we designated "age-associated T helper (TA) cells.