Although the full phenotype(s) of individuals with GOF STAT6 variants will only be uncovered through the identification of additional affected individuals, we propose to classify human germline AD GOF STAT6 syndrome as a PAD (Lyons and Milner, 2018; Milner, 2020; Vaseghi-Shanjani et al., 2021). This evidence concerns the gene STAT6 and peripheral arterial disease.