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. 2019 Apr 30;7:160. doi: 10.3389/fped.2019.00160

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Copyright © 2019 Henrickson, Dolan, Forbes, Vargas-Hernández, Nishimura, Okada, Kersun, Brodeur and Heimall.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Inheritance and functional impact of STAT1 variant. (A) T437N family pedigree. (B) Immunoblot assay to assess phosphorylation of STAT1 in T437N as well as T437I (known GOF), R274Q (known GOF) and Y701C (LOF). (C) Transiently expressed WT or mutant STAT1 (R274Q and T437I, both GOF, and Y701C, LOF) with IRF1 reporter plasmids into STAT1 null cell line (U3C cells). Cells were stimulated with IFN-γ at varied concentrations for 16 h and IRF1 transcriptional activity was then measured with a luciferase assay. (D) Measurement of the effect of IFN-α and IFN-γ stimulation on the rate of STAT1 de-phosphorylation in NK cells, T cells and monocytes from patient with STAT1-T437N mutation.