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. 2020 Jun 27;8(9):3102–3111. doi: 10.1016/j.jaip.2020.06.034

Figure 1.

Figure 1

AR STAT1 Val339ProfsTer18 variant leads to complete STAT1 deficiency. (A) Pedigree of the patient's family. Double line indicates consanguinity, filled shape indicates affected, and the diagonal line crossing the solid black square indicates deceased individual. Genotype of the healthy sibling is not known. (B) Electropherograms of father (F), mother (M), and patient (P) STAT1 wt/mut and mut/mut alleles. (C) Schematic representation of the STAT1 protein domains and the localization of the p.Val339ProfsTer18 variant within the DNA-binding domain. (D) Immunoblot analysis of HD, patient (P), and mother (M) PBMCs untreated or treated with IFN-α2a for 30 minutes. Arrow indicates expected height of STAT1 Val339ProfsTer18 variant. Representative result of 2 independent experiments.