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. Author manuscript; available in PMC: 2020 Mar 1.
Published in final edited form as: J Cell Biochem. 2018 Sep 27;120(3):4321–4332. doi: 10.1002/jcb.27718

Table 2:

Homozygous mutations in IFN-γ receptor deficiency patients.

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]