Fig.1 Overview of the genetic variants identified inIFNGR1 and STAT1
Family pedigree of the patients indicating the genetic variant identified the patients (A). Linear presentations of the human IFN-γR1 (B ) and STAT1 protein (C ) indicating the different domains and genetic variants identified in the three patients. SP, signal peptide; TM, transmembrane domain; TAD, transactivation domain. The binding location for JAK1 and STAT1 are indicated with black lines. The numbers underneath the IFN-γR1 and STAT1 proteins indicate the amino acid numbering. The numbers underneath the AluY transposable element indicate the nucleotide numbering of the AluY.