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. 2019 Jan 8;9:3047. doi: 10.3389/fimmu.2018.03047

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Copyright © 2019 Mogensen.

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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Inborn errors of immunity in interferon (IFN) regulatory factors (IRF)s and signal transducers and activators of transcription (STAT)s may lead to either loss-of-function (LOF) (red asterisk) or gain-of-function (GOF) (green asterisk) of the molecule and result in different primary immunodeficiencies (PID)s and infectious phenotypes. Within the IFN inducing signaling pathways defects in IRF3, IRF7, IRF9, and IRF8 result in herpes simplex encephalitis (HSE), severe influenza, and Mendelian susceptibility to mycobacterial disease (MSMD), respectively. Defects downstream of the type I IFN receptor in STAT1, STAT2 or IRF9 cause MSMD, susceptibility to measles, and severe influenza, respectively. In contrast, STAT1 GOF causes chronic mucocutaneous candidiasis (CMC). ISRE, IFN stimulated response element; GAS, γ-IFN-activated sequence.