Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Nature Genetics - Tập 46 Số 5 - Trang 503-509 - 2014
Gillian Rice1, Yoandris del Toro Duany2, Emma Jenkinson1, Gabriella Forte1, Beverley Anderson1, Giada Ariaudo3, Brigitte Bader‐Meunier4, Eileen Baildam5, Roberta Battini6, Michael W. Beresford5, Manuela Casarano6, Mondher Chouchane7, Rolando Cimaz8, Abigail E. Collins9, Nuno Cordeiro10, Russell C. Dale11, Joyce Davidson12, Liesbeth De Waele13, Isabelle Desguerre14, Laurence Faivre15, Elisa Fazzi16, Bertrand Isidor17, Lieven Lagae13, Andrew Latchman18, Pierre Lebon19, Chumei Li20, John H. Livingston21, Charles Marques Lourenço22, Maria Margherita Mancardi23, Gregory J. Pazour15, Iain B. McInnes24, Manoj P. Menezes25, Cyril Mignot26, James O’Sullivan1, Simona Orcesi3, Paolo Picco27, Enrica Riva28, Robert A. Robinson29, Diana Rodriguez30, E. Salvatici28, Christiaan Scott31, Marta Szybowska20, John Tolmie32, Adeline Vanderver33, Catherine Vanhulle34, José Pedro Vieira35, Kate Webb31, Robyn Whitney36, Simon G. Williams1, Lynne A. Wolfe37, Sameer M. Zuberi38, Sun Hur39, Yanick J. Crow1
1Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK
2Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts, USA
3Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy
4Department of Pediatric Immunology and Rheumatology, INSERM U768, Imagine Foundation, Assistance Publique–Hôpitaux de Paris (AP-HP), Hôpital Necker, Paris, France
5Department of Paediatric Rheumatology, Alder Hey Children's National Health Service (NHS) Foundation Trust, Liverpool, UK
6Department of Developmental Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Stella Maris, Pisa, Italy
7Service de Pédiatrie 1, Centre Hospitalier Universitaire (CHU) de Dijon, Dijon, France
8Department of Pediatrics, Azienda Ospedaliero Universitaria (AOU) Meyer and University of Florence, Florence, Italy
9Division of Pediatric Neurology, Department of Pediatrics, University of Colorado School of Medicine, Denver, Colorado, USA
10Department of Paediatrics, Rainbow House NHS Ayrshire and Arran, Irvine, UK
11Neuroimmunology Group, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia
12Department of Paediatric Rheumatology, Royal Hospital for Sick Children, Glasgow, UK
13Department of Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium
14Department of Pediatric Neurology, INSERM U768, Imagine Foundation, AP-HP, Hôpital Necker, Paris, France
15Centre de Génétique, Hôpital d'Enfants, CHU de Dijon and Université de Bourgogne, Dijon, France
16Department of Clinical and Experimental Sciences, Child Neurology and Psychiatry Unit. Civil Hospital, University of Brescia, Brescia, Italy
17Service de génétique médicale, CHU de Nantes, Nantes, France
18Division of General Pediatrics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada
19Université et Faculté de Medecine Paris Descartes, Paris, France
20Department of Pediatrics, Clinical Genetics Program, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada
21Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK
22Clinics Hospital of Ribeirao Preto, University of São Paulo, São Paulo, Brazil
23Department of Neuroscience, Operative Unit Child Neuropsychiatry, Giannina Gaslini Institute, Genoa, Italy
24Institute of Infection, Immunity and Inflammation, University of Glasgow, Glasgow, UK
25Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia
26Department of Genetics, Groupe Hospitalier Pitié Salpêtrière, AP-HP, Paris, France
27Paediatric Rheumatology, Giannina Gaslini Institute, Genoa, Italy
28Clinical Department of Pediatrics, San Paolo Hospital, University of Milan, Milan, Italy
29Department of Neurology, Great Ormond Street Hospital for Children, London, UK
30Service de Neuropédiatrie, Centre de Référence de Neurogénétique, Hôpital A. Trousseau, AP-HP, Hôpitaux Universitaire Est Parisien (HUEP), Paris, France
31Department of Paediatric Rheumatology, University of Cape Town, Red Cross War Memorial Children's Hospital, Cape Town, Republic of South Africa
32Department of Clinical Genetics, Southern General Hospital, Glasgow, UK
33Department of Pediatric Neurology, Children's National Medical Center, Washington, DC, USA
34Service de Néonatalogie et Réanimation, Hôpital Charles Nicolle, CHU Rouen, Rouen, France
35Neurology Department, Hospital Dona Estefânia, Centro Hospitalar de, Lisboa Central, Lisbon, Portugal
36Division of Pediatric Neurology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada
37US National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, US National Institutes of Health, Bethesda, Maryland, USA
38Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, UK
39Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, USA

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Tài liệu tham khảo

Gresser, I., Tovey, M.G., Maury, C. & Chouroulinkov, I. Lethality of interferon preparations for newborn mice. Nature 258, 76–78 (1975).

Gresser, I. et al. Progressive glomerulonephritis in mice treated with interferon preparations at birth. Nature 263, 420–422 (1976).

Gresser, I. et al. Interferon-induced disease in mice and rats. Ann. NY Acad. Sci. 350, 12–20 (1980).

Crow, Y.J. Type I interferonopathies: a novel set of inborn errors of immunity. Ann. NY Acad. Sci. 1238, 91–98 (2011).

Crow, Y.J. et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat. Genet. 38, 917–920 (2006).

Crow, Y.J. et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat. Genet. 38, 910–916 (2006).

Rice, G.I. et al. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat. Genet. 41, 829–832 (2009).

Rice, G.I. et al. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat. Genet. 44, 1243–1248 (2012).

Rice, G.I. 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. 12, 1159–1169 (2013).

Briggs, T.A. et al. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat. Genet. 43, 127–131 (2011).

Goubau, D., Deddouche, S. & Reis, E.S.C. Cytosolic sensing of viruses. Immunity 38, 855–869 (2013).

Peisley, A. et al. Cooperative assembly and dynamic disassembly of MDA5 filaments for viral dsRNA recognition. Proc. Natl. Acad. Sci. USA 108, 21010–21015 (2011).

Peisley, A. et al. Kinetic mechanism for viral dsRNA length discrimination by MDA5 filaments. Proc. Natl. Acad. Sci. USA 109, E3340–E3349 (2012).

Wu, B. et al. Structural basis for dsRNA recognition, filament formation, and antiviral signal activation by MDA5. Cell 152, 276–289 (2013).

Rice, G. et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome. Am. J. Hum. Genet. 80, 811–815 (2007).

Tojo, K. et al. Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation. Mov. Disord. 21, 1510–1513 (2006).

Livingston, J.H. et al. A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. J. Med. Genet. 51, 76–82 (2014).

Kondo, T. et al. Dyschromatosis symmetrica hereditaria associated with neurological disorders. J. Dermatol. 35, 662–666 (2008).

Bennett, L. et al. Interferon and granulopoiesis signatures in systemic lupus erythematosus blood. J. Exp. Med. 197, 711–723 (2003).

Baechler, E.C. et al. Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc. Natl. Acad. Sci. USA 100, 2610–2615 (2003).

Cen, H. et al. Association of IFIH1 rs1990760 polymorphism with susceptibility to autoimmune diseases: a meta-analysis. Autoimmunity 46, 455–462 (2013).

Crampton, S.P., Deane, J.A., Feigenbaum, L. & Bolland, S. Ifih1 gene dose effect reveals MDA5-mediated chronic type I IFN gene signature, viral resistance, and accelerated autoimmunity. J. Immunol. 188, 1451–1459 (2012).

Nejentsev, S. et al. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324, 387–389 (2009).

Crow, Y.J. & Rehwinkel, J. Aicardi-Goutières syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum. Mol. Genet. 18, R130–R136 (2009).

Stetson, D.B. Endogenous retroelements and autoimmune disease. Curr. Opin. Immunol. 24, 692–697 (2012).

Deddouche, S. et al. Identification of an LGP2-associated MDA5 agonist in picornavirus-infected cells. eLife 3, e01535 (2014).

Funabiki, M. et al. Autoimmune disorders associated with gain of function of the intracellular sensor MDA5. Immunity 40, 199–212 (2014).

Crow, Y.J. et al. Therapies in Aicardi-Goutières syndrome. Clin. Exp. Immunol. 175, 1–8 (2014).

Herries, D.G. Enzyme Structure and Mechanism 2nd edn. (W H Freeman, New York, 1985).

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Nature Genetics

Tập 46 Số 5

503-509

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