Genetic and clinical characteristics of TYK2-deficient patients (previously reported and new patients). AV, adenovirus; MAF, minor allele frequency; MC, molluscum contagiosum. Patient number and mutations are as in Fig. 1. The frequency of the variant is annotated according to gnomAD data. TYK2 expression is indicated. The functional effect of the mutation is indicated: LOF or hypomorphic (hypo). The defect observed for each signaling pathway is annotated. N means normal. The defect of the IL-6 response observed only in P-Jap is highlighted in yellow. There are, therefore, five forms of AR TYK2 deficiency. In orange, AR complete TYK2 deficiency without TYK2 expression. In dark orange, AR complete TYK2 deficiency with residual TYK2 expression. In blue, AR partial TYK2 deficiency with normal TYK2 expression, affecting all signaling pathways. In green, AR partial TYK2 deficiency, selective for IL-23 due to a common variant. In dark green, AR partial TYK2 deficiency, selective for IL-23 due to a rare variant.