157 discovered homozygous or compound heterozygous deletions and point mutations in DOCK8 in 11 patients who had previously been diagnosed with AR-HIES or unknown combined immunodeficiencies. It has since been shown that DOCK8 mutations account for the majority of cases of AR-HIES with over 60 patients now reported in literature 157–167. This evidence concerns the gene DOCK8 and immunodeficiency disease.