Primary immunodeficiencies in cytosolic pattern-recognition receptor pathways: Toward host-directed treatment strategies.
Immunotherapies
cytosolic pattern-recognition receptor
primary immunodeficiency
therapeutic approaches
Journal
Immunological reviews
ISSN: 1600-065X
Titre abrégé: Immunol Rev
Pays: England
ID NLM: 7702118
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
17
05
2020
revised:
08
06
2020
accepted:
09
06
2020
pubmed:
9
7
2020
medline:
26
10
2021
entrez:
9
7
2020
Statut:
ppublish
Résumé
In the last decade, the paradigm of primary immunodeficiencies (PIDs) as rare recessive familial diseases that lead to broad, severe, and early-onset immunological defects has shifted toward collectively more common, but sporadic autosomal dominantly inherited isolated defects in the immune response. Patients with PIDs constitute a formidable area of research to study the genetics and the molecular mechanisms of complex immunological pathways. A significant subset of PIDs affect the innate immune response, which is a crucial initial host defense mechanism equipped with pattern-recognition receptors. These receptors recognize pathogen- and damage-associated molecular patterns in both the extracellular and intracellular space. In this review, we will focus on primary immunodeficiencies caused by genetic defects in cytosolic pattern-recognition receptor pathways. We discuss these PIDs organized according to their mutational mechanisms and consequences for the innate host response. The advanced understanding of these pathways obtained by the study of PIDs creates the opportunity for the development of new host-directed treatment strategies.
Substances chimiques
Receptors, Pattern Recognition
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
247-272Informations de copyright
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2019 update on the classification from the international union of immunological societies expert committee. J Clin Immunol. 2020;40:24-64.
Bruton OC. AGAMMAGLOBULINEMIA. Pediatrics. 1952;9(6):722.
Ochs H, Hitzig W. History of primary immunodeficiency diseases. Curr Opin Allergy Clin Immunol. 2012;12:577-587.
Milner JD, Holland SM. The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases. Nat Rev Immunol. 2013;13(9):635-648.
Bucciol G, Moens L, Bosch B, et al. Lessons learned from the study of human inborn errors of innate immunity. J Allergy Clin Immunol. 2019;143(2):507-527.
Akira S, Uematsu S, Takeuchi O. Pathogen recognition and innate immunity. Cell. 2006;124(4):783-801.
Janeway CA Jr. Approaching the asymptote? Evolution and revolution in immunology. Cold Spring Harb Symp Quant Biol. 1989;54(Pt 1):1-13.
Brubaker SW, Bonham KS, Zanoni I, Kagan JC. Innate immune pattern recognition: a cell biological perspective. Annu Rev Immunol. 2015;33(1):257-290.
Platnich JM, Muruve DA. NOD-like receptors and inflammasomes: a review of their canonical and non-canonical signaling pathways. Arch Biochem Biophys. 2019;670:4-14.
Levine B, Mizushima N, Virgin HW. Autophagy in immunity and inflammation. Nature. 2011;469(7330):323-335.
Netea MG, van der Meer JWM. Immunodeficiency and genetic defects of pattern-recognition receptors. N Engl J Med. 2011;364(1):60-70.
Motwani M, Pesiridis S, Fitzgerald KA. DNA sensing by the cGAS-STING pathway in health and disease. Nat Rev Genet. 2019;20(11):657-674.
Tan X, Sun L, Chen J, Chen ZJ. Detection of microbial infections through innate immune sensing of nucleic acids. Annu Rev Microbiol. 2015;72(1):447-478.
Dolasia K, Bisht MK, Pradhan G, Udgata A, Mukhopadhyay S. TLRs/NLRs: shaping the landscape of host immunity. Int Rev Immunol. 2018;37(1):3-19.
Chen Q, Sun L, Chen ZJ. Regulation and function of the cGAS-STING pathway of cytosolic DNA sensing. Nat Immunol. 2016;17(10):1142-1149.
Khan S, Godfrey V, Zaki H.Cytosolic Nucleic Acid Sensors in Inflammatory and Autoimmune Disorders. In: Vol 344. 2018.
Caneparo V, Landolfo S, Gariglio M, De Andrea M. The absent in melanoma 2-like receptor ifn-inducible protein 16 as an inflammasome regulator in systemic lupus erythematosus: the dark side of sensing microbes. Front Immunol. 2018;9(1180):1-14.
Meyts I, Bosch B, Bolze A, et al. Exome and genome sequencing for inborn errors of immunity. J Allergy Clin Immunol. 2016;138(4):957-969.
Göös H, Fogarty CL, Sahu B, et al. Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy. J Allergy Clin Immunol. 2019;144(5):1364-1376.
Dupuis S, Jouanguy E, Al-Hajjar S, et al. Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency. Nat Genet. 2003;33(3):388-391.
Dupuis S, Dargemont C, Fieschi C, et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science. 2001;293(5528):300.
van de Veerdonk FL, Plantinga TS, Hoischen A, et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med. 2011;365(1):54-61.
Stray-Pedersen A, Sorte HS, Samarakoon P, et al. Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017;139(1):232-245.
Boisson B, Quartier P, Casanova J-L. Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind. Curr Opin Immunol. 2015;32:90-105.
Vissers LELM, de Ligt J, Gilissen C, et al. A de novo paradigm for mental retardation. Nat Genet. 2010;42(12):1109-1112.
Gilissen C, Hehir-Kwa JY, Thung DT, et al. Genome sequencing identifies major causes of severe intellectual disability. Nature. 2014;511(7509):344-347.
Veitia RA, Caburet S, Birchler JA. Mechanisms of Mendelian dominance. Clin Genet. 2018;93(3):419-428.
Yoneyama M, Kikuchi M, Natsukawa T, et al. The RNA helicase RIG-I has an essential function in double-stranded RNA-induced innate antiviral responses. Nat Immunol. 2004;5(7):730-737.
Kang D-C, Gopalkrishnan RV, Wu Q, Jankowsky E, Pyle AM, Fisher PB. mda-5: an interferon-inducible putative RNA helicase with double-stranded RNA-dependent ATPase activity and melanoma growth-suppressive properties. Proc Natl Acad Sci USA. 2002;99(2):637.
Saito T, Hirai R, Loo Y-M, et al. Regulation of innate antiviral defenses through a shared repressor domain in RIG-I and LGP2. Proc Natl Acad Sci USA. 2007;104(2):582.
Hornung V, Ellegast J, Kim S, et al. 5'-Triphosphate RNA Is the ligand for RIG-I. Science. 2006;314(5801):994.
Kato H, Takeuchi O, Sato S, et al. Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses. Nature. 2006;441(7089):101-105.
Dias Junior AG, Sampaio NG, Rehwinkel J. A Balancing act: MDA5 in antiviral immunity and autoinflammation. Trends Microbiol. 2019;27(1):75-85.
Murali A, Li X, Ranjith-Kumar CT, et al. Structure and function of LGP2, a DEX(D/H) helicase that regulates the innate immunity response. J Biol Chem. 2008;283(23):15825-15833.
Kawai T, Takahashi K, Sato S, et al. IPS-1, an adaptor triggering RIG-I- and Mda5-mediated type I interferon induction. Nat Immunol. 2005;6(10):981-988.
Michallet M-C, Meylan E, Ermolaeva MA, et al. TRADD protein is an essential component of the RIG-like helicase antiviral pathway. Immunity. 2008;28(5):651-661.
Seth RB, Sun L, Ea C-K, Chen ZJ. Identification and characterization of MAVS, a mitochondrial antiviral signaling protein that activates NF-κB and IRF3. Cell. 2005;122(5):669-682.
Tang ED, Wang C-Y. TRAF5 Is a downstream target of MAVS in antiviral innate immune signaling. PLoS One. 2010;5(2):e9172.
West AP, Shadel GS, Ghosh S. Mitochondria in innate immune responses. Nat Rev Immunol. 2011;11(6):389-402.
Ishikawa H, Barber GN. STING is an endoplasmic reticulum adaptor that facilitates innate immune signalling. Nature. 2008;455(7213):674-678.
Burdette DL, Monroe KM, Sotelo-Troha K, et al. STING is a direct innate immune sensor of cyclic di-GMP. Nature. 2011;478(7370):515-518.
Wu J, Sun L, Chen X, et al. Cyclic GMP-AMP is an endogenous second messenger in innate immune signaling by cytosolic DNA. Science. 2013;339(6121):826.
Dobbs N, Burnaevskiy N, Chen D, Gonugunta Vijay K, Alto Neal M, Yan N. STING activation by translocation from the ER is associated with infection and autoinflammatory disease. Cell Host Microbe. 2015;18(2):157-168.
Fang R, Wang C, Jiang Q, et al. NEMO-IKKβ Are essential for IRF3 and NF-κB activation in the cGAS-STING pathway. J Immunol. 2017;199(9):3222.
Ahn J, Barber GN. Self-DNA, STING-dependent signaling and the origins of autoinflammatory disease. Curr Opin Immunol. 2014;31:121-126.
Rongvaux A, Jackson R, Harman C, et al. Apoptotic caspases prevent the induction of type I interferons by mitochondrial DNA. Cell. 2014;159(7):1563-1577.
Asgari S, Schlapbach LJ, Anchisi S, et al. Severe viral respiratory infections in children with IFIH1 loss-of-function mutations. Proc Natl Acad Sci USA. 2017;114(31):8342.
Lamborn IT, Jing H, Zhang YU, et al. Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. J Exp Med. 2017;214(7):1949-1972.
Zaki M, Thoenes M, Kawalia A, et al. Recurrent and prolonged infections in a child with a homozygous IFIH1 nonsense mutation. Frontiers Genetics. 2017;8(130):1-6.
Takahasi K, Kumeta H, Tsuduki N, et al. Solution structures of cytosolic RNA sensor MDA5 and LGP2 C-terminal domains: identification of the RNA recognition loop in RIG-I-like receptors. J Biol Chem. 2009;284(26):17465-17474.
Cao X, Ding Q, Lu J, et al. MDA5 plays a critical role in interferon response during hepatitis C virus infection. J Hepatol. 2015;62(4):771-778.
Feng Q, Hato S, Langereis M, et al. MDA5 detects the double-stranded RNA replicative form in picornavirus-infected cells. Cell Rep. 2012;2(5):1187-1196.
Melchjorsen J, Rintahaka J, Søby S, et al. Early innate recognition of herpes simplex virus in human primary macrophages is mediated via the MDA5/MAVS-dependent and MDA5/MAVS/RNA polymerase III-independent pathways. J Virol. 2010;84(21):11350.
Deddouche S, Goubau D, Rehwinkel J, et al. Identification of an LGP2-associated MDA5 agonist in picornavirus-infected cells. eLife. 2014;3:e01535.
Zhang S-Y, Jouanguy E, Ugolini S, et al. TLR3 deficiency in patients with herpes simplex encephalitis. Science. 2007;317(5844):1522-1527.
Paludan SR, Bowie AG, Horan KA, Fitzgerald KA. Recognition of herpesviruses by the innate immune system. Nat Rev Immunol. 2011;11(2):143-154.
Liu T, Khanna KM, Chen X, Fink DJ, Hendricks RL. Cd8+ T cells can block herpes simplex virus type 1 (HSV-1) reactivation from latency in sensory neurons. J Exp Med. 2000;191(9):1459-1466.
Rager-Zisman B, Quan PC, Rosner M, Moller JR, Bloom BR. Role of NK cells in protection of mice against herpes simplex virus-1 infection. J Immunol. 1987;138(3):884-888.
Sørensen LN, Reinert LS, Malmgaard L, Bartholdy C, Thomsen AR, Paludan SR. TLR2 and TLR9 synergistically control herpes simplex virus infection in the brain. J Immunol. 2008;181(12):8604.
Unterholzner L, Keating SE, Baran M, et al. IFI16 is an innate immune sensor for intracellular DNA. Nat Immunol. 2010;11(11):997-1004.
Li X-D, Wu J, Gao D, Wang H, Sun L, Chen ZJ. Pivotal roles of cGAS-cGAMP signaling in antiviral defense and immune adjuvant effects. Science. 2013;341(6152):1390.
Chiu Y-H, MacMillan JB, Chen ZJ. RNA polymerase III detects cytosolic DNA and induces Type I interferons through the RIG-I pathway. Cell. 2009;138(3):576-591.
Detje CN, Meyer T, Schmidt H, et al. Local type I IFN receptor signaling protects against virus spread within the central nervous system. J Immunol. 2009;182(4):2297-2304.
Pasieka TJ, Lu B, Leib DA. Enhanced pathogenesis of an attenuated herpes simplex virus for mice lacking stat1. J Virol. 2008;82(12):6052.
Delhaye S, Paul S, Blakqori G, et al. Neurons produce type I interferon during viral encephalitis. Proc Natl Acad Sci USA. 2006;103(20):7835.
Menachery VD, Pasieka TJ, Leib DA. Interferon regulatory factor 3-dependent pathways are critical for control of herpes simplex virus type 1 central nervous system infection. J Virol. 2010;84(19):9685.
Casrouge A, Zhang S-Y, Eidenschenk C, et al. Herpes simplex virus encephalitis in human UNC-93B deficiency. Science. 2006;314(5797):308-312.
Kim Y-M, Brinkmann MM, Paquet M-E, Ploegh HL. UNC93B1 delivers nucleotide-sensing toll-like receptors to endolysosomes. Nature. 2008;452(7184):234-238.
Guo Y, Audry M, Ciancanelli M, et al. Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity. J Exp Med. 2011;208(10):2083-2098.
Pérez de Diego R, Sancho-Shimizu V, Lorenzo L, et al. Human TRAF3 adaptor molecule deficiency leads to impaired toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Immunity. 2010;33(3):400-411.
Häcker H, Tseng P-H, Karin M. Expanding TRAF function: TRAF3 as a tri-faced immune regulator. Nat Rev Immunol. 2011;11(7):457-468.
Tseng P-H, Matsuzawa A, Zhang W, Mino T, Vignali DAA, Karin M. Different modes of ubiquitination of the adaptor TRAF3 selectively activate the expression of type I interferons and proinflammatory cytokines. Nat Immunol. 2010;11(1):70-75.
He JQ, Zarnegar B, Oganesyan G, et al. Rescue of TRAF3-null mice by p100 NF-κB deficiency. J Exp Med. 2006;203(11):2413-2418.
Senftleben U, Cao Y, Xiao G, et al. Activation by IKKα of a second, evolutionary conserved, NF-κB signaling pathway. Science. 2001;293(5534):1495.
Gardam S, Sierro F, Basten A, Mackay F, Brink R. TRAF2 and TRAF3 signal adapters act cooperatively to control the maturation and survival signals delivered to B cells by the BAFF receptor. Immunity. 2008;28(3):391-401.
Annunziata CM, Davis RE, Demchenko Y, et al. Frequent engagement of the classical and alternative NF-κB pathways by diverse genetic abnormalities in multiple myeloma. Cancer Cell. 2007;12(2):115-130.
Keats JJ, Fonseca R, Chesi M, et al. Promiscuous mutations activate the noncanonical NF-κB pathway in multiple myeloma. Cancer Cell. 2007;12(2):131-144.
Perez-Chacon G, Adrados M, Vallejo-Cremades MT, Lefebvre S, Reed JC, Zapata JM. Dysregulated TRAF3 and BCL2 expression promotes multiple classes of mature non-hodgkin B cell lymphoma in mice. Front Immunol. 2019;9:3114.
Zhu S, Jin J, Gokhale S, et al. Genetic alterations of TRAF proteins in human cancers. Front Immunol. 2018;9(2111):1-30.
Lalani AI, Zhu S, Gokhale S, Jin J, Xie P. TRAF molecules in inflammation and inflammatory diseases. Current Pharmacol Rep. 2018;4(1):64-90.
Oganesyan G, Saha SK, Guo B, et al. Critical role of TRAF3 in the Toll-like receptor-dependent and -independent antiviral response. Nature. 2006;439(7073):208-211.
Sancho-Shimizu V, Pérez de Diego R, Lorenzo L, et al. Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. J Clin Investig. 2011;121:4889-4902.
Oshiumi H, Matsumoto M, Funami K, Akazawa T, Seya T. TICAM-1, an adaptor molecule that participates in Toll-like receptor 3-mediated interferon-β induction. Nat Immunol. 2003;4(2):161-167.
Herman M, Ciancanelli M, Ou Y-H, et al. Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. J Exp Med. 2012;209(9):1567-1582.
Fitzgerald KA, McWhirter SM, Faia KL, et al. IKKε and TBK1 are essential components of the IRF3 signaling pathway. Nat Immunol. 2003;4(5):491-496.
Sharma S, tenOever BR, Grandvaux N, Zhou G-P, Lin R, Hiscott J. Triggering the interferon antiviral response through an IKK-related pathway. Science. 2003;300(5622):1148.
Andersen LL, Mørk N, Reinert LS, et al. Functional IRF3 deficiency in a patient with herpes simplex encephalitis. J Exp Med. 2015;212(9):1371-1379.
Honda K, Taniguchi T. IRFs: master regulators of signalling by Toll-like receptors and cytosolic pattern-recognition receptors. Nat Rev Immunol. 2006;6(9):644-658.
Liu S, Cai X, Wu J, et al. Phosphorylation of innate immune adaptor proteins MAVS, STING, and TRIF induces IRF3 activation. Science. 2015;347(6227):aaa2630.
Ogawa S, Lozach J, Benner C, et al. Molecular determinants of crosstalk between nuclear receptors and toll-like receptors. Cell. 2005;122(5):707-721.
Ciancanelli MJ, Huang SXL, Luthra P, et al. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency. Science. 2015;348(6233):448.
Honda K, Yanai H, Negishi H, et al. IRF-7 is the master regulator of type-I interferon-dependent immune responses. Nature. 2005;434(7034):772-777.
Izaguirre A, Barnes BJ, Amrute S, et al. Comparative analysis of IRF and IFN-alpha expression in human plasmacytoid and monocyte-derived dendritic cells. J Leukoc Biol. 2003;74(6):1125-1138.
Sato M, Hata N, Asagiri M, Nakaya T, Taniguchi T, Tanaka N. Positive feedback regulation of type I IFN genes by the IFN-inducible transcription factor IRF-7. FEBS Lett. 1998;441(1):106-110.
Ogunjimi B, Zhang S-Y, Sørensen KB, et al. Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections. J Clin Investig. 2017;127(9):3543-3556.
Carter-Timofte ME, Hansen AF, Mardahl M, et al. Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins. Neurol Neuroimmunol Neuroinflamm. 2018;5(6):e500.
Tétreault M, Choquet K, Orcesi S, et al. Recessive mutations in POLR3B, encoding the second largest subunit of pol III, cause a rare hypomyelinating leukodystrophy. Am J Human Genetics. 2011;89(5):652-655.
Bernard G, Thiffault I, Tetreault M, et al. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. neurogenetics. 2010;11(4):457-464.
Crow YJ. Type I interferonopathies: a novel set of inborn errors of immunity. Ann N Y Acad Sci. 2011;1238(1):91-98.
Lee-Kirsch MA. The type I Interferonopathies. Annu Rev Med. 2017;68(1):297-315.
Crow YJ, Manel N. Aicardi-Goutières syndrome and the type I interferonopathies. Nat Rev Immunol. 2015;15(7):429-440.
Uggenti C, Lepelley A, Crow YJ. Self-awareness: nucleic acid-driven inflammation and the type I interferonopathies. Annu Rev Immunol. 2019;37(1):247-267.
Rodero MP, Crow YJ. Type I interferon-mediated monogenic autoinflammation: the type I interferonopathies, a conceptual overview. J Exp Med. 2016;213(12):2527-2538.
Crow YJ, Hayward BE, Parmar R, 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):917-920.
Crow YJ, Leitch A, Hayward BE, et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet. 2006;38(8):910-916.
Aicardi J, Goutières F. A Progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol. 1984;15(1):49-54.
Lebon P, Badoual J, Ponsot G, Goutières F, Hémeury-Cukier F, Aicardi J. Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. J Neurol Sci. 1988;84(2):201-208.
Rice GI, Forte GMA, Szynkiewicz M, et al. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 2013;12(12):1159-1169.
Stetson DB, Ko JS, Heidmann T, Medzhitov R. Trex1 prevents cell-intrinsic initiation of autoimmunity. Cell. 2008;134(4):587-598.
Rice GI, Bond J, Asipu A, et al. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009;41(7):829-832.
Ryoo J, Hwang S-Y, Choi J, Oh C, Ahn K. SAMHD1, the Aicardi-Goutières syndrome gene and retroviral restriction factor, is a phosphorolytic ribonuclease rather than a hydrolytic ribonuclease. Biochem Biophys Res Comm. 2016;477(4):977-981.
Goldstone DC, Ennis-Adeniran V, Hedden JJ, et al. HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. Nature. 2011;480(7377):379-382.
Oh C, Ryoo J, Park K, et al. A central role for PI3K-AKT signaling pathway in linking SAMHD1-deficiency to the type I interferon signature. Sci Rep. 2018;8(1):84.
Yan N, Regalado-Magdos AD, Stiggelbout B, Lee-Kirsch MA, Lieberman J. The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1. Nat Immunol. 2010;11(11):1005-1013.
Beck-Engeser GB, Eilat D, Wabl M. An autoimmune disease prevented by anti-retroviral drugs. Retrovirology. 2011;8(1):91.
Achleitner M, Kleefisch M, Hennig A, et al. Lack of Trex1 causes systemic autoimmunity despite the presence of antiretroviral drugs. J Immunol. 2017;199(7):2261.
Yasutomo K, Horiuchi T, Kagami S, et al. Mutation of DNASE1 in people with systemic lupus erythematosus. Nat Genet. 2001;28(4):313-314.
Al-Mayouf SM, Sunker A, Abdwani R, et al. Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet. 2011;43(12):1186-1188.
Napirei M, Karsunky H, Zevnik B, Stephan H, Mannherz HG, Möröy T. Features of systemic lupus erythematosus in Dnase1-deficient mice. Nat Genet. 2000;25(2):177-181.
Lee-Kirsch MA, Gong M, Chowdhury D, et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet. 2007;39(9):1065-1067.
Briggs TA, Rice GI, Daly S, et al. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet. 2011;43(2):127-131.
Rodero MP, Tesser A, Bartok E, et al. Type I interferon-mediated autoinflammation due to DNase II deficiency. Nat Commun. 2017;8(1):2176.
Rice GI, Kasher PR, Forte GMA, et al. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet. 2012;44(11):1243-1248.
Crow Y, Zaki M, Abdel-Hamid M, et al. Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. Neuropediatrics. 2014;45(06):386-391.
Livingston JH, Lin J-P, Dale RC, et al. A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. J Med Genet. 2014;51(2):76.
Chung H, Calis JJA, Wu X, et al. Human ADAR1 prevents endogenous RNA from triggering translational shutdown. Cell. 2018;172(4):811-824.e814.
Cho D-S, Yang W, Lee JT, Shiekhattar R, Murray JM, Nishikura K. Requirement of dimerization for RNA editing activity of adenosine deaminases acting on RNA. J Biol Chem. 2003;278(19):17093-17102.
Hartner JC, Walkley CR, Lu J, Orkin SH. ADAR1 is essential for the maintenance of hematopoiesis and suppression of interferon signaling. Nat Immunol. 2009;10(1):109-115.
Rice GI, del Toro Duany Y, Jenkinson EM, 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):503-509.
Oda H, Nakagawa K, Abe J, et al. Aicardi-Goutières syndrome is caused by IFIH1 mutations. Am J Human Genetics. 2014;95(1):121-125.
Ahmad S, Mu X, Yang F, et al. Breaching self-tolerance to alu duplex RNA underlies MDA5-mediated inflammation. Cell. 2018;172(4):797-810.e713.
Rutsch F, MacDougall M, Lu C, et al. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet. 2015;96(2):275-282.
Bursztejn AC, Briggs TA, del Toro DY, et al. Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes. Br J Dermatol. 2015;173(6):1505-1513.
de Carvalho LM, Ngoumou G, Park JW, et al. Musculoskeletal disease in MDA5-related type I interferonopathy: a mendelian mimic of jaccoud's arthropathy. Arthritis Rheumatol. 2017;69(10):2081-2091.
Ruaud L, Rice GI, Cabrol C, et al. Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function. Hum Mutat. 2018;39(8):1076-1080.
Jang M-A, Kim E, Now H, et al. Mutations in DDX58, which encodes RIG-I, cause atypical singleton-merten syndrome. Am J Human Genetics. 2015;96(2):266-274.
Ferreira CR, Crow YJ, Gahl WA, et al. DDX58 and classic singleton-merten syndrome. J Clin Immunol. 2019;39(1):75-80.
Zheng J, Wang C, Chang MR, et al. HDX-MS reveals dysregulated checkpoints that compromise discrimination against self RNA during RIG-I mediated autoimmunity. Nat Commun. 2018;9(1):5366.
Brisse M, Ly H. Comparative structure and function analysis of the RIG-I-Like receptors: RIG-I and MDA5. Front Immunol. 2019;10(1586).
Liu Y, Jesus AA, Marrero B, et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014;371(6):507-518.
König N, Fiehn C, Wolf C, et al. Familial chilblain lupus due to a gain-of-function mutation in STING. Ann Rheum Dis. 2017;76(2):468.
Frémond M-L, Rodero MP, Jeremiah N, et al. Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children. J Allergy Clin Immunol. 2016;138(6):1752-1755.
Keskitalo S, Haapaniemi E, Einarsdottir E, et al. Novel TMEM173 mutation and the role of disease modifying alleles. Front Immunol. 2019;10(2770).
Munoz J, Rodière M, Jeremiah N, et al. Stimulator of interferon genes-associated vasculopathy with onset in infancy : a mimic of childhood granulomatosis with polyangiitis. JAMA Dermatology. 2015;151(8):872-877.
Konno H, Chinn IK, Hong D, et al. Pro-inflammation associated with a gain-of-function mutation (R284S) in the innate immune sensor STING. Cell Rep. 2018;23(4):1112-1123.
Jeremiah N, Neven B, Gentili M, et al. Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Investig. 2014;124(12):5516-5520.
Torrelo A, Patel S, Colmenero I, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol. 2010;62(3):489-495.
Torrelo A. CANDLE syndrome as a paradigm of proteasome-related autoinflammation. Front Immunol. 2017;8:927.
Seifert U, Bialy LP, Ebstein F, et al. Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress. Cell. 2010;142(4):613-624.
Liu Y, Ramot Y, Torrelo A, et al. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. 2012;64(3):895-907.
Agarwal AK, Xing C, DeMartino GN, et al. PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Human Genetics. 2010;87(6):866-872.
Kitamura A, Maekawa Y, Uehara H, et al. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Investig. 2011;121(10):4150-4160.
Arima K, Kinoshita A, Mishima H, 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 USA. 2011;108(36):14914-14919.
McDermott A, Jesus AA, Liu Y, et al. A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations. J Am Acad Dermatol. 2013;69(1):e29-e32.
Brehm A, Liu Y, Sheikh A, et al. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Investig. 2015;125(11):4196-4211.
Basler M, Kirk CJ, Groettrup M. The immunoproteasome in antigen processing and other immunological functions. Curr Opin Immunol. 2013;25(1):74-80.
Mundt S, Basler M, Buerger S, Engler H, Groettrup M. Inhibiting the immunoproteasome exacerbates the pathogenesis of systemic Candida albicans infection in mice. Sci Rep. 2016;6(1):19434.
Poli MC, Ebstein F, Nicholas SK, et al. Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome. The American Journal of Human Genetics. 2018;102(6):1126-1142.
de Jesus AA, Brehm A, VanTries R, et al. Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4. J Allergy Clin Immunol. 2019;143(5):1939-1943.e1938.
Boyadzhiev M, Marinov L, Boyadzhiev V, Iotova V, Aksentijevich I, Hambleton S. Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome. Pediatr Rheumatol Online J. 2019;17(1):19.
Montealegre G, Reinhardt A, Brogan P, et al. Preliminary response to Janus kinase inhibition with baricitinib in chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE). Pediatric Rheumatol. 2015;13(1):O31.
de Jesus AA, Hou Y, Brooks S, et al. Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. J Clin Investig. 2020;130(4):1669-1682.
Savic S, Caseley EA, McDermott MF. Moving towards a systems-based classification of innate immune-mediated diseases. Nature Rev Rheumatol. 2020;16(4):222-237.
Saleh M. The machinery of Nod-like receptors: refining the paths to immunity and cell death. Immunol Rev. 2011;243(1):235-246.
Girardin SE, Boneca IG, Carneiro LAM, et al. Nod1 detects a unique muropeptide from gram-negative bacterial peptidoglycan. Science. 2003;300(5625):1584.
Girardin SE, Travassos LH, Hervé M, et al. Peptidoglycan molecular requirements allowing detection by Nod1 and Nod2. J Biol Chem. 2003;278(43):41702-41708.
Lamkanfi M, Dixit VM. Mechanisms and functions of inflammasomes. Cell. 2014;157(5):1013-1022.
Chen KW, Schroder K. Antimicrobial functions of inflammasomes. Curr Opin Microbiol. 2013;16(3):311-318.
Strowig T, Henao-Mejia J, Elinav E, Flavell R. Inflammasomes in health and disease. Nature. 2012;481(7381):278-286.
Guo H, Callaway JB, Ting JPY. Inflammasomes: mechanism of action, role in disease, and therapeutics. Nat Med. 2015;21(7):677-687.
Mangan MSJ, Olhava EJ, Roush WR, Seidel HM, Glick GD, Latz E. Targeting the NLRP3 inflammasome in inflammatory diseases. Nat Rev Drug Discovery. 2018;17(8):588-606.
Schnappauf O, Chae JJ, Kastner DL, Aksentijevich I. The pyrin inflammasome in health and disease. Front Immunol. 2019;10(1745):1-15.
Swanson KV, Deng M, Ting JPY. The NLRP3 inflammasome: molecular activation and regulation to therapeutics. Nat Rev Immunol. 2019;19(8):477-489.
Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001;29(3):301-305.
Aganna E, Martinon F, Hawkins PN, et al. Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum. 2002;46(9):2445-2452.
Aksentijevich I, Nowak M, Mallah M, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002;46(12):3340-3348.
Hull KM, Shoham N, Chae JJ, Aksentijevich I, Kastner DL. The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Curr Opin Rheumatol. 2003;15(1):61-69.
de Koning HD, van Gijn ME, Stoffels M, et al. Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome. J Allergy Clin Immunol. 2015;135(2):561-564.e564.
Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1β-processing inflammasome with increased activity in muckle-wells autoinflammatory disorder. Immunity. 2004;20(3):319-325.
Jesus AA, Goldbach-Mansky R. IL-1 blockade in autoinflammatory syndromes. Annu Rev Med. 2014;65(1):223-244.
Dinarello CA, Simon A, van der Meer JWM. Treating inflammation by blocking interleukin-1 in a broad spectrum of diseases. Nat Rev Drug Discovery. 2012;11(8):633-652.
Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, et al. use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009;360(23):2416-2425.
Hoffman HM, Throne ML, Amar NJ, et al. Efficacy and safety of rilonacept (interleukin-1 trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies. Arthritis Rheum. 2008;58(8):2443-2452.
Goldbach-Mansky R, Dailey NJ, Canna SW, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. N Engl J Med. 2006;355(6):581-592.
Kuemmerle-Deschner JB, Hachulla E, Cartwright R, et al. Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes. Ann Rheum Dis. 2011;70(12):2095.
Jeru I, Duquesnoy P, Fernandes-Alnemri T, et al. Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci USA. 2008;105(5):1614-1619.
Jéru I, Le Borgne G, Cochet E, et al. Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. Arthritis Rheum. 2011;63(5):1459-1464.
Borghini S, Tassi S, Chiesa S, et al. Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis Rheum. 2011;63(3):830-839.
Shen M, Tang L, Shi X, Zeng X, Yao Q. NLRP12 autoinflammatory disease: a Chinese case series and literature review. Clin Rheumatol. 2017;36(7):1661-1667.
Kostik MM, Suspitsin EN, Guseva MN, et al. Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders. Rheumatol Int. 2018;38(5):887-893.
Allen I, Wilson J, Schneider M, et al. NLRP12 suppresses colon inflammation and tumorigenesis through the negative regulation of noncanonical NF-κB signaling. Immunity. 2012;36(5):742-754.
Lich JD, Williams KL, Moore CB, et al. Cutting edge: monarch-1 suppresses non-canonical NF-κB activation and p52-dependent chemokine expression in monocytes. J Immunol. 2007;178(3):1256.
Jéru I, Hentgen V, Normand S, et al. Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy. Arthritis Rheum. 2011;63(7):2142-2148.
Başaran Ö, Uncu N, Çakar N, et al. C3 glomerulopathy in NLRP12-related autoinflammatory disorder: case-based review. Rheumatol Int. 2018;38(8):1571-1576.
Broderick L, Nardo DD, Franklin BS, Hoffman HM, Latz E. The inflammasomes and autoinflammatory syndromes. Annu Rev Pathol. 2015;10(1):395-424.
Jin Y, Mailloux CM, Gowan K, et al. NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med. 2007;356(12):1216-1225.
Grandemange S, Sanchez E, Louis-Plence P, et al. A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis). Ann Rheum Dis. 2017;76(7):1191.
Masters S, Gerlic M, Metcalf D, et al. NLRP1 inflammasome activation induces pyroptosis of hematopoietic progenitor cells. Immunity. 2012;37(6):1009-1023.
Zhong FL, Mamaï O, Sborgi L, et al. Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation. Cell. 2016;167(1):187-202.e117.
Yu C-H, Moecking J, Geyer M, Masters SL. Mechanisms of NLRP1-mediated autoinflammatory disease in humans and mice. J Mol Biol. 2018;430(2):142-152.
Canna SW, de Jesus AA, Gouni S, et al. An activating NLRC4 inflammasome mutation causess autoinflammation with recurrent macrophage activation syndrome. Nat Genet. 2014;46(10):1140-1146.
Romberg N, Al Moussawi K, Nelson-Williams C, et al. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet. 2014;46(10):1135-1139.
Romberg N, Vogel TP, Canna SW. NLRC4 inflammasomopathies. Curr Opin Allergy Clin Immunol. 2017;17(6):398-404.
Chear CT, Nallusamy R, Canna SW, et al. A novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation. Clin Immunol. 2020;211:108328.
Moghaddas F, Zeng P, Zhang Y, et al. Autoinflammatory mutation in NLRC4 reveals a leucine-rich repeat (LRR)-LRR oligomerization interface. J Allergy Clin Immunol. 2018;142(6):1956-1967.e1956.
Canna SW, Girard C, Malle L, et al. Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition. J Allergy Clin Immunol. 2017;139(5):1698-1701.
Heller H, Sohar E, Sherf L. Familial mediterranean fever. AMA Archives Internal Med. 1958;102(1):50-71.
The French FMF Consortium, Bernot A, Clepet C, et al. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17(1):25-31.
The International FMFC. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial mediterranean fever. Cell. 1997;90(4):797-807.
Heilig R, Broz P. Function and mechanism of the pyrin inflammasome. Eur J Immunol. 2018;48(2):230-238.
Booty MG, Chae JJ, Masters SL, et al. Familial mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum. 2009;60(6):1851-1861.
Özen S, Bilginer Y, Aktay Ayaz N, Calguneri M. Anti-interleukin 1 treatment for patients with familial mediterranean fever resistant to colchicine. J Rheumatol. 2011;38(3):516-518.
Moghaddas F, Llamas R, De Nardo D, et al. A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever. Ann Rheum Dis. 2017;76(12):2085.
Masters SL, Lagou V, Jéru I, et al. Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. Sci Transl Med. 2016;8(332):332ra345.
Steiner A, Harapas CR, Masters SL, Davidson S. An update on autoinflammatory diseases: relopathies. Curr Rheumatol Rep. 2018;20(7):39.
Kacar M, Pathak S, Savic S. Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome. Rheumatology. 2019;58(Supplement_6):vi31-vi43.
Martin TM, Zhang Z, Kurz P, et al. The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. Arthritis Rheum. 2009;60(2):611-618.
Liu T, Zhang L, Joo D, Sun S-C. NF-κB signaling in inflammation. Signal Transduction Targeted Therapy. 2017;2(1):17023.
Pannicke U, Baumann B, Fuchs S, et al. Deficiency of innate and acquired immunity caused by an IKBKB mutation. N Engl J Med. 2013;369(26):2504-2514.
Lalaoui N, Boyden SE, Oda H, et al. Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. Nature. 2020;577(7788):103-108.
Cuchet-Lourenço D, Eletto D, Wu C, et al. Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation. Science. 2018;361(6404):810-813.
Badran YR, Dedeoglu F, Leyva Castillo JM, et al. Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration. J Exp Med. 2017;214(7):1937-1947.
Aksentijevich I, Zhou Q. NF-κB pathway in autoinflammatory diseases: dysregulation of protein modifications by ubiquitin defines a new category of autoinflammatory diseases. Front Immunol. 2017;8(399):1-11.
Boisson B, Laplantine E, Dobbs K, et al. Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. J Exp Med. 2015;212(6):939-951.
Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatrics. 1985;107(5):689-693.
Miceli-Richard C, Lesage S, Rybojad M, et al. CARD15 mutations in Blau syndrome. Nat Genet. 2001;29(1):19-20.
Strober W, Asano N, Fuss I, Kitani A, Watanabe T. Cellular and molecular mechanisms underlying NOD2 risk-associated polymorphisms in Crohn's disease. Immunol Rev. 2014;260(1):249-260.
Janssen CEI, Rose CD, De Hertogh G, et al. Morphologic and immunohistochemical characterization of granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. J Allergy Clin Immunol. 2012;129(4):1076-1084.
Chen J, Luo YI, Zhao M, et al. Effective treatment of TNFα inhibitors in Chinese patients with Blau syndrome. Arthritis Res Ther. 2019;21(1):236.
Hugot J-P, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 2001;411(6837):599-603.
Wouters CH, Maes A, Foley KP, Bertin J, Rose CD. Blau Syndrome, the prototypic auto-inflammatory granulomatous disease. Pediatric Rheumatology. 2014;12(1):33.
Pazmandi J, Kalinichenko A, Ardy RC, Boztug K. Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms. Immunol Rev. 2019;287(1):162-185.
Verstockt B, Smith KG, Lee JC. Genome-wide association studies in Crohn's disease: past, present and future. Clin Transl Immunology. 2018;7(1):e1001.
Casanova J-L, Abel L. Primary immunodeficiencies: a field in its infancy. Science. 2007;317(5838):617.
Armangue T, Baucells BJ, Vlagea A, et al. Toll-like receptor 3 deficiency in autoimmune encephalitis post-herpes simplex encephalitis. Neurol Neuroimmunol Neuroinflamm. 2019;6(6):e611.
Van De Veerdonk F, Dewi I, Cunha C, et al. Inhibition of host neuraminidase increases susceptibility to invasive pulmonary aspergillosis. Open Forum Infect Dis. 2018;5(Suppl 1):S36.
Gisslinger H, Klade C, Georgiev P, et al. Ropeginterferon alfa-2b versus standard therapy for polycythaemia vera (PROUD-PV and CONTINUATION-PV): a randomised, non-inferiority, phase 3 trial and its extension study. Lancet Haematol. 2020;7(3):e196-e208.
Perrillo R. Benefits and risks of interferon therapy for hepatitis B. Hepatology. 2009;49(S5):S103-S111.
Kötter I, Günaydin I, Zierhut M, Stübiger N. The use of interferon α in behçet disease: review of the literature. Semin Arthritis Rheum. 2004;33(5):320-335.
Kolb-Mäurer A, Sunderkötter C, Kukowski B, Meuth SG, members of an expert m. An update on peginterferon beta-1a management in multiple sclerosis: results from an interdisciplinary board of German and Austrian neurologists and dermatologists. BMC Neurol. 2019;19(1):130.
Kim H, de Jesus AA, Brooks SR, et al. Development of a validated interferon score using nanostring technology. J Interferon Cytokine Res. 2018;38(4):171-185.
Sanchez GAM, Reinhardt A, Ramsey S, et al. JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. J Clin Investig. 2018;128(7):3041-3052.
Zandvakili I, Conboy CB, Ayed AO, Cathcart-Rake EJ, Tefferi A. Ruxolitinib as first-line treatment in secondary hemophagocytic lymphohistiocytosis: a second experience. Am J Hematol. 2018;93(5):E123-E125.
Prencipe G, Bracaglia C, De Benedetti F. Interleukin-18 in pediatric rheumatic diseases. Curr Opin Rheumatol. 2019;31(5):421-427.
Rice GI, Meyzer C, Bouazza N, et al. Reverse-transcriptase inhibitors in the aicardi-goutières syndrome. N Engl J Med. 2018;379(23):2275-2277.
Brogan PA, Hofer M, Kuemmerle-Deschner JB, et al. Rapid and sustained long-term efficacy and safety of canakinumab in patients with cryopyrin-associated periodic syndrome ages five years and younger. Arthritis Rheumatol. 2019;71(11):1955-1963.
Kuemmerle-Deschner JB, Wittkowski H, Tyrrell PN, et al. Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens. Arthritis Res Ther. 2013;15(3):R64.
De Benedetti F, Gattorno M, Anton J, et al. Canakinumab for the treatment of autoinflammatory recurrent fever syndromes. N Engl J Med. 2018;378(20):1908-1919.
Gargallo V, Menis D, Delgado Márquez AM, Aróstegui JI, Llamas Martín R. Short-term efficacy of adalimumab in a patient with pyrin-associated autoinflammation with neutrophilic dermatosis. JDDG J Deutschen Dermatol Gesellschaft. 2018;16(6):756-759.
Stone D, Ombrello A, de Jesus AA, et al. Use of TNF inhibitors in the treatment of PAPA syndrome. Pediatr Rheumatol Online J. 2015;13(Suppl 1):P138.
Dinarello CA, Novick D, Kim S, Kaplanski G. Interleukin-18 and IL-18 binding protein. Front Immunol. 2013;4:289.
Gabay C, Fautrel B, Rech J, et al. Open-label, multicentre, dose-escalating phase II clinical trial on the safety and efficacy of tadekinig alfa (IL-18BP) in adult-onset Still's disease. Ann Rheum Dis. 2018;77(6):840.
Scheufele C, Ezaldein HH, Rothbaum R, Delost GR. Multiple self-healing palmoplantar carcinoma: an aberrance of the inflammasome. JAAD Case Reports. 2019;5(3):261-263.
Kolb-Mäurer A, Sunderkötter C, Kukowski B, et al. An update on Peginterferon beta-1a Management in Multiple Sclerosis: results from an interdisciplinary Board of German and Austrian Neurologists and dermatologists. BMC Neurol. 2019;19(1):130.
Gull I, Aslam MS, Tipu I, Mushtaq R, Ali TZ, Athar MA. Development of latent Interferon alpha 2b as a safe therapeutic for treatment of Hepatitis C virus infection. Sci Rep. 2019;9(1):10867.
Schwartz DM, Kanno Y, Villarino A, Ward M, Gadina M, O'Shea JJ. JAK inhibition as a therapeutic strategy for immune and inflammatory diseases. Nat Rev Drug Discov. 2017;17(1):78.
Strand V, Ahadieh S, French J, et al. Systematic review and meta-analysis of serious infections with tofacitinib and biologic disease-modifying antirheumatic drug treatment in rheumatoid arthritis clinical trials. Arthritis Res Ther. 2015;17:362.
Kullenberg T, Löfqvist M, Leinonen M, Goldbach-Mansky R, Olivecrona H. Long-term safety profile of anakinra in patients with severe cryopyrin-associated periodic syndromes. Rheumatology (Oxford). 2016;55(8):1499-1506.
Ridker PM, Everett BM, Thuren T, et al. Antiinflammatory therapy with canakinumab for atherosclerotic disease. N Engl J Med. 2017;377(12):1119-1131.
Lenardo M, Lo B, Lucas CL. Genomics of immune diseases and new therapies. Annu Rev Immunol. 2016;34(1):121-149.
Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. bioRxiv. 2020:531210.
Arts P, Simons A, AlZahrani MS, et al. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies. Genome Med. 2019;11(1):38.
Telenti A, di Iulio J. Regulatory genome variants in human susceptibility to infection. Hum Genet. 2020;139(6-7):759-768.
Li Y, Oosting M, Smeekens SP, et al. A functional genomics approach to understand variation in cytokine production in humans. Cell. 2016;167(4):1099-1110.e1014.
van Deuren RC, Arts P, Cavalli G, et al. The impact of rare and common genetic variation in the Interleukin-1 pathway for human cytokine responses. bioRxiv. 2020.02.14.949602.
Rheinheimer J, de Souza BM, Cardoso NS, Bauer AC, Crispim D. Current role of the NLRP3 inflammasome on obesity and insulin resistance: a systematic review. Metabolism. 2017;74:1-9.
Klen J, Goričar K, Janež A, Dolžan V. NLRP3 inflammasome polymorphism and macrovascular complications in type 2 diabetes patients. J Diabetes Res. 2015;2015:616747.
M’Koma AE. The multifactorial etiopathogeneses interplay of inflammatory bowel disease: an overview. Gastrointestinal Disorders. 2018;1(1):75-105.
Tsokos GC, Lo MS, Reis PC, Sullivan KE. New insights into the immunopathogenesis of systemic lupus erythematosus. Nat Rev Rheumatol. 2016;12(12):716-730.
Wenzel J. Cutaneous lupus erythematosus: new insights into pathogenesis and therapeutic strategies. Nat Rev Rheumatol. 2019;15(9):519-532.