Suspecting a genetic aetiology in this case, whole exome sequence analysis and addition/deletion testing of 207 genes associated with primary immunodeficiency was undertaken on whole blood DNA from the proband, identifying a homozygous predicted pathogenic variant in STAT2 (c.1999C>T [p.Arg667Ter]) and a heterozygous variant in DOCK2 [c.54-1G>T], the latter of unlikely clinical relevance. The gene discussed is STAT2; the disease is inborn error of immunity.