Three patients in the PT group were late-onset ADA-CID patients (Table S1); two patients had homozygous missense mutation in ADA exon 6, V177M [C.529G > A]), a homozygous missense mutation in ADA exon 6, a previously identified change shown in vitro to produce 0.1–0.4% of wild type ADA activity [9]. The gene discussed is ADA; the disease is combined immunodeficiency.