Table 2:
IFNGR1D Patients | Type of Mutation | Nucleotide | Reference |
N1 | Missense | C77F/C77F | [Jouanguy et al., 2000] |
N2 | Splice site | 202–1G>T/202–1G>T | |
N3 | Small frameshift deletion | 523delT/523delT | [Dorman et al., 2004] |
IFNGR2D Patients | Type of Mutation | Nucleotide | Reference |
N4 | Small frameshift deletion | 212delA/212delA | |
N5 | Missense | T168N/T168N | [Vogt et al., 2005] |
N6 | Small frameshift deletion | 663del27/663del27 | [Vogt et al., 2005] |