PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity,Multiple Sclerosis Journal

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PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity
Multiple Sclerosis Journal ( IF 4.8 ) Pub Date : 2020-10-14 , DOI: 10.1177/1352458520963937
Carlo Sidore ₁ , Valeria Orrù ₁ , Eleonora Cocco ₂ , Maristella Steri ₁ , Jamie Rj Inshaw ₃ , Maristella Pitzalis ₁ , Antonella Mulas ₁ , Stuart McGurnaghan ₄ , Jessica Frau ₂ , Eleonora Porcu ₅ , Fabio Busonero ₁ , Mariano Dei ₁ , Sandra Lai ₁ , Gabriella Sole ₁ , Francesca Virdis ₁ , Valentina Serra ₁ , Fausto Poddie ₆ , Alessandro Delitala ₇ , Michele Marongiu ₁ , Francesca Deidda ₁ , Mauro Pala ₁ , Matteo Floris ₆ , Marco Masala ₁ , Suna Onengut-Gumuscu ₈ , Catherine C Robertson ₈ , Lidia Leoni ₉ , Annapaola Frongia ₁₀ , Maria Rossella Ricciardi ₁₁ , Margherita Chessa ₁₂ , Nazario Olla ₁ , Mario Lovicu ₁ , Annalisa Loizedda ₁ , Andrea Maschio ₁ , Luisa Mereu ₁₃ , Paola Ferrigno ₁₄ , Nicolo Curreli ₁ , Lenuta Balaci ₁ , Francesco Loi ₁ , Liana Ap Ferreli ₁ , Maria Grazia Pilia ₁ , Antonello Pani ₁₅ , Maria Giovanna Marrosu ₂ , Goncalo R Abecasis ₁₆ , Stephen S Rich ₈ , Helen Colhoun ₄ , John A Todd ₃ , David Schlessinger ₁₇ , Edoardo Fiorillo ₁ , Francesco Cucca ₁₈ , Magdalena Zoledziewska ₁

Affiliation

Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche (CNR), Cittadella Universitaria di Monserrato, Monserrato, Italy.
Department of Medical Sciences and Public health, Multiple Sclerosis Centre, University of Cagliari, Cagliari, Italy.
JDRF/Wellcome Diabetes and Inflammation Laboratory, Wellcome Centre for Human Genetics, Oxford, UK/Nuffield Department of Medicine, NIHR Oxford Biomedical Research Centre, Oxford, UK.
Diabetes Medical Informatics and Epidemiology, The University of Edinburgh, Edinburgh, Scotland.
Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland/Swiss Institute of Bioinformatics, Lausanne, Switzerland.
Department of Biomedical Sciences, University of Sassari, Sassari, Italy.
Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche (CNR), Cittadella Universitaria di Monserrato, Monserrato, Italy/Department of Surgical, Medical and Experimental Sciences, University of Sassari, Sassari, Italy.
Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.
Center for Advanced Studies, Research and Development in Sardinia (CRS4), Parco Scientifico e Tecnologico della Sardegna, Pula, Italy.
Unit of Paediatric Diabetes, Brotzu Hospital, Cagliari, Italy.
Diabetologia Pediatrica, Azienda Ospedaliera G. Brotzu, Cagliari, Italy.
Struttura Complessa di Pediatria, Azienda Ospedaliera G. Brotzu, Cagliari, Italy.
Unità Operativa di Pediatria, Ospedale San Martino di Oristano, Oristano, Italy.
Reparto di Neurologia, Azienda Ospedaliera G. Brotzu, Cagliari, Italy.
Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche (CNR), Cittadella Universitaria di Monserrato, Monserrato, Italy/Struttura Complessa di Nefrologia e Dialisi, Azienda Ospedaliera G. Brotzu, Cagliari, Italy.
Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Laboratory of Genetics and Genomics, National Institute on Aging (NIA), National Institutes of Health (NIH), Baltimore, MD, USA.
Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche (CNR), Cittadella Universitaria di Monserrato, Monserrato, Italy/Department of Biomedical Sciences, University of Sassari, Sassari, Italy.

Background:Defective alleles within the PRF1 gene, encoding the pore-forming protein perforin, in combination with environmental factors, cause familial type 2 hemophagocytic lymphohistiocytosis (F...

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