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 common variable immunodeficiency.