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.