Of these, 16 had mutations associated with CVID (34%), including NFKB1 (n=5), TACI (n=4), NFKB2+TACI (n=1), IKZF1 (n=1), ADA2 (n=1), CTLA4 + IRFBP2 (n=1), RAG1+RAG2 (n=1), LRBA (n=1) and BACH2 (n=1). The gene discussed is RAG2; the disease is common variable immunodeficiency.