In these criteria, the combination of RP with the presence of SSc-specific antinuclear autoantibodies (ANA) -such as anti-topoisomerase I (ATA), anti-centromere (ACA) and anti-RNA polymerase III (RNAPIII) -and SSc-specific NVC changes was sufficient to define a clinical entity which was labeled as “the most limited form of SSc”, lSSc (limited SSc) or early SSc (hereto referred as “EaSSc”). The gene discussed is ATM; the disease is systemic sclerosis.