C
Christiaan Scott
Researcher at University of Cape Town
Publications - 73
Citations - 1623
Christiaan Scott is an academic researcher from University of Cape Town. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 12, co-authored 57 publications receiving 1055 citations. Previous affiliations of Christiaan Scott include Boston Children's Hospital & Katholieke Universiteit Leuven.
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Journal ArticleDOI
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gillian I. Rice,Yoandris del Toro Duany,Yoandris del Toro Duany,Emma M. Jenkinson,Gabriella M A Forte,Beverley Anderson,Giada Ariaudo,Brigitte Bader-Meunier,Eileen Baildam,Roberta Battini,Michael W. Beresford,Manuela Casarano,Mondher Chouchane,Rolando Cimaz,Abigail Collins,Nuno Cordeiro,Russell C. Dale,Joyce Davidson,Liesbeth De Waele,Isabelle Desguerre,Laurence Faivre,Elisa Fazzi,Bertrand Isidor,Lieven Lagae,Andrew Latchman,Pierre Lebon,Chumei Li,John H. Livingston,Charles Marques Lourenço,Maria Margherita Mancardi,Alice Masurel-Paulet,Iain B. McInnes,Manoj P. Menezes,Cyril Mignot,James O'Sullivan,Simona Orcesi,Paolo Picco,Enrica Riva,Robert Robinson,Diana Rodriguez,Diana Rodriguez,Elisabetta Salvatici,Christiaan Scott,Marta Szybowska,John Tolmie,Adeline Vanderver,Catherine Vanhulle,José Pedro Vieira,Kate Webb,Robyn Whitney,Simon G. Williams,Lynne A. Wolfe,Sameer M. Zuberi,Sameer M. Zuberi,Sun Hur,Sun Hur,Yanick J. Crow +56 more
TL;DR: It is demonstrated that aberrant sensing of nucleic acids can cause immune upregulation and heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (also called MDA5) cause a spectrum of neuroimmunological features consistently associated with an enhanced interferon state.
Journal ArticleDOI
Treating juvenile idiopathic arthritis to target: recommendations of an international task force
Angelo Ravelli,Alessandro Consolaro,Gerd Horneff,Ronald M. Laxer,Daniel J. Lovell,Nico M Wulffraat,Jonathan D Akikusa,Sulaiman M. Al-Mayouf,Jordi Anton,Tadej Avcin,Roberta A. Berard,Michael W. Beresford,Ruben Burgos-Vargas,Rolando Cimaz,Fabrizio De Benedetti,Erkan Demirkaya,Dirk Foell,Yasuhiko Itoh,Pekka Lahdenne,Esi M. Morgan,Pierre Quartier,Nicolino Ruperto,Ricardo Russo,Claudia Saad-Magalhães,Sujata Sawhney,Christiaan Scott,Susan Shenoi,Joost F. Swart,Yosef Uziel,Yosef Uziel,Sebastiaan J. Vastert,Josef S Smolen +31 more
TL;DR: Recommendations for treating JIA to target, being aware that the evidence is not strong and needs to be expanded by future research, can inform various stakeholders about strategies to reach optimal outcomes for JIA.
Journal ArticleDOI
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases
Adriana Almeida de Jesus,Yangfeng Hou,Stephen R. Brooks,Louise Malle,Angelique Biancotto,Yan Huang,Katherine R. Calvo,Bernadette Marrero,Susan Moir,Andrew J. Oler,Zuoming Deng,Gina A. Montealegre Sanchez,Amina Ahmed,Eric J. Allenspach,Bita Arabshahi,Edward M. Behrens,Susanne M. Benseler,Liliana Bezrodnik,Sharon Bout-Tabaku,Anne Marie C. Brescia,Diane E. Brown,Jon M. Burnham,María Soledad Caldirola,Ruy Carrasco,Alice Y. Chan,Rolando Cimaz,Paul Dancey,Jason Dare,Marietta DeGuzman,Victoria R. Dimitriades,Ian Ferguson,Polly J. Ferguson,Laura S. Finn,Marco Gattorno,Alexei A. Grom,Eric P. Hanson,Philip J. Hashkes,Christian M. Hedrich,Ronit Herzog,Gerd Horneff,Rita Jerath,Elizabeth A. Kessler,Hanna Kim,Daniel J. Kingsbury,Ronald M. Laxer,Pui Y. Lee,Min Ae Lee-Kirsch,Laura B Lewandowski,Suzanne C. Li,Vibke Lilleby,Vafa Mammadova,Lakshmi N. Moorthy,Gulnara Nasrullayeva,Kathleen M. O'Neil,Karen Onel,Seza Ozen,Nancy Pan,Pascal Pillet,Daniela Gerent Petry Piotto,Marilynn Punaro,Andreas Reiff,Adam L Reinhardt,Lisa G. Rider,Rafael Rivas-Chacon,Tova Ronis,Angela Rösen-Wolff,Johannes Roth,Natasha M. Ruth,Marite Rygg,Heinrike Schmeling,Grant S. Schulert,Christiaan Scott,Gisella Seminario,Andrew I. Shulman,Vidya Sivaraman,Mary Beth F. Son,Yuriy Stepanovskiy,Elizabeth Stringer,Sara Taber,Maria Teresa Terreri,Cynthia J. Tifft,Troy R. Torgerson,Laura L. Tosi,Annet van Royen-Kerkhof,Theresa Wampler Muskardin,Scott W. Canna,Raphaela Goldbach-Mansky +86 more
TL;DR: The IRG-S expands the diagnostic armamentarium in evaluating USAIDs and points to different pathways regulating IRG expression as well as 3 additional autoinflammatory diseases: IL-18-mediated PAP and recurrent MAS, NEMO∆5-associated autoinflammatory syndrome (NEMO-NDAS), and SAMD9L- associated autoinflammatory disease (SAMD 9L-SAAD).
Journal ArticleDOI
Phenotypic variability and disparities in treatment and outcomes of childhood arthritis throughout the world: an observational cohort study.
Alessandro Consolaro,Alessandro Consolaro,Gabriella Giancane,Alessandra Alongi,Evert Hendrik Pieter van Dijkhuizen,Evert Hendrik Pieter van Dijkhuizen,Amita Aggarwal,Sulaiman M. Al-Mayouf,Francesca Bovis,Jaime de Inocencio,Erkan Demirkaya,Berit Flatø,Dirk Foell,Stella Garay,Calin Lazar,Daniel J. Lovell,Carolina Montobbio,Paivi Miettunen,Dimitrina Mihaylova,Susan Nielsen,Ilonka Orbán,Ingrida Rumba-Rozenfelde,Claudia Saad Magalhães,Nahid Shafaie,Gordana Susic,Maria Trachana,Nico M Wulffraat,Angela Pistorio,Alberto Martini,Alberto Martini,Nicolino Ruperto,Angelo Ravelli,Angelo Ravelli,Reem Abdwani,Yahya Aghighi,Maya-Feriel Aiche,C. Ailioaie,Nuray Aktay Ayaz,Safiya Al-Abrawi,Ekaterina Alexeeva,Jordi Anton,Adriana Apostol,Olga Arguedas,Tadej Avcin,Patrizia Barone,Lillemor Berntson,Alina Boteanu,Yaryna Boyko,Rubén Burgos-Vargas,Inmaculada Calvo Penades,Gaëlle Chédeville,Rolando Cimaz,Adele Civino,Rita Consolini,Tamás Constantin,Ruben Cuttica,Tomáš Dallos,Neil A. Martin,Silvia Magni Manzoni,Carmen De Cunto,Pavla Dolezalova,Maria Ekelund,Yasser El Miedany,Graciela Espada,Anne Estmann Christensen,Ivan Foeldvari,Romina Gallizzi,Gerd Ganser,Valeria Gerloni,Johannes-Peter Haas,Liora Harel,Miroslav Harjacek,Soad Hashad,Troels Herlin,Cristina Herrera,Michael Hofer,Dirk Holzinger,Gerd Horneff,Hans-Iko Huppertz,Nicolae Iagaru,Amparo Ibanez Estrella,Maka Ioseliani,Rik Joos,Sheila Knupp Feitosa de Oliveira,Sylvia Kamphuis,Ozgur Kasapcopur,MM Katsicas,Raju Khubchandani,Anuela Kondi,Liisa Kröger,Francesco La Torre,Matilda Laday,Pekka Lahdenne,Maria Cristina Maggio,Maria Greca Magnolia,Clara Malagon,Merja Malin,Silvana Martino,José Melo-Gomes,Pablo Mesa-del-Castillo,Andrea Militaru,Kirsten Minden,Angela Miniaci,Mohammad Hasan Moradinejad,Zoilo Morel Ayala,Irina Nikishina,Ximena Norambuena,Ellen Nordal,Karaman Pagava,Violeta Panaviene,Serena Pastore,Sara Pieropan,Rosa Anna Podda,Chris Pruunsild,Anne Putto-Laurila,Pierre Quartier,Agustin Remesal,Donato Rigante,Sarah Ringold,Lidia Rutkowska-Sak,Marite Rygg,Rotraud K. Saurenmann,Sujata Sawhney,Christiaan Scott,Reza Shiari,Elżbieta Smolewska,Betül Sözeri,Joost F Swart,Flavio Sztajnbok,Marta Torcoletti,Elena Tsitsami,Nikolay Tzaribachev,Erbil Unsal,Yosef Uziel,Paula Vähäsalo,B Varbanova,Veronika Vargova,Richard Vesely,Gordana Vijatov-Djuric,Soamarat Vilaiyuk,Jelena Vojinovic,Olga Vougiouka,Pamela Weiss,Carine Wouters +143 more
TL;DR: The greater disease burden in lower-resource settings highlights the need for public health efforts aimed at improving equity in access to effective treatments and care for juvenile idiopathic arthritis.
Journal ArticleDOI
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
Carolina Uggenti,Alice Lepelley,Marine Depp,Andrew P. Badrock,Mathieu P Rodero,Marie-Thérèse El-Daher,Gillian I. Rice,Somdutta Dhir,Ann P. Wheeler,Ashish Dhir,Waad Albawardi,Marie-Louise Frémond,Luis Seabra,Jennifer Doig,Natalie F. Blair,Maria José Martin-Niclos,Erika Della Mina,Alejandro Rubio-Roldan,Jose L. Garcia-Perez,Jose L. Garcia-Perez,Duncan Sproul,Jan Rehwinkel,Jonny Hertzog,Anne Boland-Auge,Robert Olaso,Jean-François Deleuze,Julien Baruteau,Karine Brochard,Jonathan Buckley,Vanessa Cavallera,Cristina Cereda,Liesbeth De Waele,Angus Dobbie,Diane Doummar,Frances Elmslie,Margarete Koch-Hogrebe,Ram Kumar,Kate Lamb,John H. Livingston,Anirban Majumdar,Charles Marques Lorenço,Simona Orcesi,Sylviane Peudenier,Kevin Rostasy,Caroline A Salmon,Christiaan Scott,Davide Tonduti,Guy Touati,Marialuisa Valente,Hélio van der Linden,Hilde Van Esch,Marie Vermelle,Kate Webb,Andrew P. Jackson,Martin A M Reijns,Nick Gilbert,Yanick J. Crow,Yanick J. Crow +57 more
TL;DR: It is established that chromatin without linker histone stimulates cyclic guanosine monophosphate-adenosine monophile production in vitro more efficiently and that nuclear histones, as key constituents of chromatin, are essential in suppressing the immunogenicity of self-DNA.