Partial RAG deficiency induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells

CD21low CD11c+ T-bethigh B cells are frequently expanded in various autoimmune disorders, indicating their potential role in autoimmunity. Patients with partial RAG deficiency (pRD) are characterized by humoral autoimmunity, suggesting breach in tolerance mechanisms and subsequent expansion of autoreactive B cell clones.