Ivashkiv LB, Donlin LT. Regulation of type I interferon responses. Nat Rev Immunol. 2014;14(1):36–49.

Article  CAS  PubMed  PubMed Central  Google Scholar 

McNab F, Mayer-Barber K, Sher A, Wack A, O’Garra A. Type I interferons in infectious disease. Nat Rev Immunol. 2015;15(2):87–103.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zitvogel L, Galluzzi L, Kepp O, Smyth MJ, Kroemer G. Type I interferons in anticancer immunity. Nat Rev Immunol. 2015;15(7):405–14.

Article  CAS  PubMed  Google Scholar 

Crow YJ. Type I interferonopathies: a novel set of inborn errors of immunity. Ann N Y Acad Sci. 2011;1238:91–8.

Article  CAS  PubMed  Google Scholar 

Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, et al. Mutations in the gene encoding the 3’-5’ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet. 2006;38(8):917–20.

Article  CAS  PubMed  Google Scholar 

Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, et al. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet. 2012;44(11):1243–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, et al. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009;41(7):829–32.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Crow YJ, Casanova JL. Human life within a narrow range: the lethal ups and downs of type I interferons. Sci Immunol. 2024;9(97):eadm8185.

Article  CAS  PubMed  Google Scholar 

Volkman HE, Stetson DB. The enemy within: endogenous retroelements and autoimmune disease. Nat Immunol. 2014;15(5):415–22.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Thomas CA, Tejwani L, Trujillo CA, Negraes PD, Herai RH, Mesci P, et al. Modeling of TREX1-dependent autoimmune disease using human stem cells highlights L1 accumulation as a source of neuroinflammation. Cell Stem Cell. 2017;21(3):319-31.e8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet. 2006;38(8):910–6.

Article  CAS  PubMed  Google Scholar 

Rice GI, Del Toro DY, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet. 2014;46(5):503–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Sanchez GAM, et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014;371(6):507–18.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jeremiah N, Neven B, Gentili M, Callebaut I, Maschalidi S, Stolzenberg MC, et al. Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Invest. 2014;124(12):5516–20.

Article  PubMed  PubMed Central  Google Scholar 

Deng Z, Chong Z, Law CS, Mukai K, Ho FO, Martinu T, et al. A defect in COPI-mediated transport of STING causes immune dysregulation in COPA syndrome. J Exp Med. 2020. https://doi.org/10.1084/jem.20201045.

Article  PubMed  PubMed Central  Google Scholar 

Steiner A, Hrovat-Schaale K, Prigione I, Yu CH, Laohamonthonkul P, Harapas CR, et al. Deficiency in coatomer complex I causes aberrant activation of STING signalling. Nat Commun. 2022;13(1):2321.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lepelley A, Martin-Niclós MJ, Le Bihan M, Marsh JA, Uggenti C, Rice GI, et al. Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling. J Exp Med. 2020. https://doi.org/10.1084/jem.20200600.

Article  PubMed  PubMed Central  Google Scholar 

Ishida M, Otero MG, Freeman C, Sánchez-Lara PA, Guardia CM, Pierson TM, et al. A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1. Hum Mol Genet. 2023;32(7):1162–74.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hirschenberger M, Lepelley A, Rupp U, Klute S, Hunszinger V, Koepke L, et al. ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling. Nat Commun. 2023;14(1):6770.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Agarwal AK, Xing C, DeMartino GN, Mizrachi D, Hernandez MD, Sousa AB, et al. PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet. 2010;87(6):866–72.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Garg A, Hernandez MD, Sousa AB, Subramanyam L, Martínez de Villarreal L, dos Santos HG, et al. An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. J Clin Endocrinol Metab. 2010;95(9):E58-63.

Article  PubMed  PubMed Central  Google Scholar 

Kitamura A, Maekawa Y, Uehara H, Izumi K, Kawachi I, Nishizawa M, et al. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest. 2011;121(10):4150–60.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, et al. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci U S A. 2011;108(36):14914–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Davidson S, Yu CH, Steiner A, Ebstein F, Baker PJ, Jarur-Chamy V, et al. Protein kinase R is an innate immune sensor of proteotoxic stress via accumulation of cytoplasmic IL-24. Sci Immunol. 2022;7(68):eabi6763.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brown GJ, Cañete PF, Wang H, Medhavy A, Bones J, Roco JA, et al. TLR7 gain-of-function genetic variation causes human lupus. Nature. 2022;605(7909):349–56.

Article  CAS  PubMed  PubMed Central  Google Scholar 

David C, Badonyi M, Kechiche R, Insalaco A, Zecca M, De Benedetti F, et al. Interface gain-of-function mutations in TLR7 cause systemic and neuro-inflammatory disease. J Clin Immunol. 2024;44(2):60.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wolf C, Lim EL, Mokhtari M, Kind B, Odainic A, Lara-Villacanas E, et al. UNC93B1 variants underlie TLR7-dependent autoimmunity. Sci Immunol. 2024;9(92):eadi9769.

Article  CAS  PubMed  Google Scholar 

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, et al. Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. J Exp Med. 2016;213(7):1163–74.

Article  PubMed