We also identified one individual with digenic disease due to a pathogenic E555K variant in TCF3 and C104R variant in TNFRSF13B. We have previously reported another kindred affected by PAD and autoimmune disease; the proband harbored a novel non-sense TCF3 mutation and the C104R variant in TNFRSF13B, with a resultant CVID-like disorder and systemic lupus erythematosus (30). The gene discussed is TCF3; the disease is peripheral arterial disease.