Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Gillian Rice; Paul R. Kasher; Gabriella Forte; Niamh Mannion; Sam M. Greenwood; Marcin Szynkiewicz; Jonathan E. Dickerson; Sanjeev S. Bhaskar; Massimiliano Zampini; Tracy A. Briggs; Emma M. Jenkinson; Carlos A. Bacino; Roberta Battini; Enrico Bertini; Paul Brogan; Louise Brueton; Marialuisa Carpanelli; Corinne De Laet; Pascale de Lonlay; Mireia del Toro; Isabelle Desguerre; Elisa Fazzi; Àngels García‐Cazorla; Arvid Heiberg; Masakazu Kawaguchi; Ram Kumar; Jean‐Pierre Lin; Charles Marques Lourenço; Alison Male; Wilson Marques; Cyril Mignot; Ivana Olivieri; Simona Orcesi; Prab Prabhakar; Magnhild Rasmussen; Robert A. Robinson; Flore Rozenberg; Johanna Schmidt; Katharina Steindl; Tiong Yang Tan; William G van der Merwe; Adeline Vanderver; Grace Vassallo; Emma Wakeling; Evangeline Wassmer; Elizabeth Whittaker; John H. Livingston; Pierre Lebon; Tamio Suzuki; Paul McLaughlin; Liam P. Keegan; Mary A. O’Connell; Simon C. Lovell; Yanick J. Crow

doi:10.1038/ng.2414

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Gillian Rice(University of Manchester), Paul R. Kasher(Manchester Academic Health Science Centre), Gabriella Forte(University of Manchester), Niamh Mannion(University of Edinburgh), Sam M. Greenwood(Medical Research Council), Marcin Szynkiewicz(University of Manchester), Jonathan E. Dickerson(Manchester Academic Health Science Centre), Sanjeev S. Bhaskar(University of Manchester), Massimiliano Zampini(University of Manchester), Tracy A. Briggs(Manchester Academic Health Science Centre), Emma M. Jenkinson(University of Manchester), Carlos A. Bacino(Baylor College of Medicine), Roberta Battini(Istituti di Ricovero e Cura a Carattere Scientifico), Enrico Bertini(Bambino Gesù Children's Hospital), Paul Brogan(University College London), Louise Brueton(National Health Service), Marialuisa Carpanelli(Alessandro Manzoni Hospital), Corinne De Laet(Queen Fabiola Children's University Hospital), Pascale de Lonlay(Université Paris Cité), Mireia del Toro(Vall d'Hebron Hospital Universitari), Isabelle Desguerre(Délégation Paris 5), Elisa Fazzi(University of Brescia), Àngels García‐Cazorla(Hospital Sant Joan de Déu Barcelona), Arvid Heiberg(Oslo University Hospital), Masakazu Kawaguchi(Yamagata University), Ram Kumar(Alder Hey Children's NHS Foundation Trust), Jean‐Pierre Lin(Guy's and St Thomas' NHS Foundation Trust), Charles Marques Lourenço(Universidade de São Paulo), Alison Male(University College London), Wilson Marques(Universidade de São Paulo), Cyril Mignot(Assistance Publique – Hôpitaux de Paris), Ivana Olivieri(Fondazione Istituto Neurologico Nazionale Casimiro Mondino), Simona Orcesi(Fondazione Istituto Neurologico Nazionale Casimiro Mondino), Prab Prabhakar(University College London), Magnhild Rasmussen(Oslo University Hospital), Robert A. Robinson(University College London), Flore Rozenberg(Assistance Publique – Hôpitaux de Paris), Johanna Schmidt(Children's National), Katharina Steindl(University of Zurich), Tiong Yang Tan(Victorian Clinical Genetics Services), William G van der Merwe, Adeline Vanderver(Children's National), Grace Vassallo(Royal Manchester Children's Hospital), Emma Wakeling(London North West Healthcare NHS Trust), Evangeline Wassmer(Birmingham Children's Hospital), Elizabeth Whittaker(Imperial College London), John H. Livingston(Leeds General Infirmary), Pierre Lebon(Université Paris Cité), Tamio Suzuki(Yamagata University), Paul McLaughlin(University of Edinburgh), Liam P. Keegan(Institute of Genetics and Cancer), Mary A. O’Connell(Medical Research Council), Simon C. Lovell(University of Manchester), Yanick J. Crow(Manchester Academic Health Science Centre)

Nature Genetics

September 23, 2012

10.1038/ng.2414

Cited by 938

Abstract

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