In our cohort, two novel heterozygous CTLA4 variants (c.19C > T (p.Gln7Ter) and c.495_496delinsAT (p.Trp165Ter)) were found in case 22 with cytopenia and case 23 with rheumatoid arthritis, diabetes mellitus, CVID, and alopecia totalis. This evidence concerns the gene CTLA4 and rheumatoid arthritis.