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Medicine (United States), ISSN 0025-7974, 12/2017, Volume 96, Issue 51, pp. e8980 - e8980
Journal Article
by Ombrello, Michael J and Arthur, Victoria L and Remmers, Elaine F and Hinks, Anne and Tachmazidou, Ioanna and Grom, Alexei A and Foell, Dirk and Martini, Alberto and Gattorno, Marco and Ozen, Seza and Prahalad, Sampath and Zeft, Andrew S and Bohnsack, John F and Ilowite, Norman T and Mellins, Elizabeth D and Russo, Ricardo and Len, Claudio and Odete e Hilario, Maria and Oliveira, Sheila and Yeung, Rae S. M and Rosenberg, Alan M and Wedderburn, Lucy R and Antón López, Jordi and Haas, Johannes-Peter and Rosen-Wolff, Angela and Minden, Kirsten and Tenbrock, Klaus and Demirkaya, Erkan and Cobb, Joanna and Baskin, Elizabeth and Signa, Sara and Shuldiner, Emily and Duerr, Richard H and Achkar, Jean-Paul and Kamboh, M. Ilyas and Kaufman, Kenneth M and Kottyan, Leah C and Pinto, Dalila and Scherer, Stephen W and Alarcón-Riquelme, Marta E and Docampo Martínez, Elisa and Estivill, Xavier, 1955 and Gül, Ahmet and British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group and Inception Cohort of Newly Diagnosed Patients with Juvenile Idiopathic Arthritis (ICON-JIA) Study Group and Childhood Arthritis Prospective Study (CAPS) Group and Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators and Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group and Biologically Based Outcome Predictors in JIA (BBOP) Group Carl D Langefeld and Thompson, Susan and Zeggini, Eleftheria and Kastner, Daniel L and Woo, Patricia and Thomson, Wendy
ISSN 0003-4967, 12/2016
Objectives Juvenile idiopathic arthritis (JIA) is a heterogeneous group of conditions unified by the presence of chronic childhood arthritis without an... 
Artritis | Arthritis | Teenagers | Genètica humana | Adolescents | Human genetics
Journal Article
ISSN 0003-4967, 2017
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2012, Volume 366, Issue 4, pp. 330 - 338
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2013, Volume 45, Issue 2, pp. 202 - 207
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 03/2014, Volume 370, Issue 10, pp. 911 - 920
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2013, Volume 110, Issue 20, pp. 8134 - 8139
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2016, Volume 113, Issue 36, pp. 10127 - 10132
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by... 
Autoinflammatory disease | Cytokines | Nf-κb pathway | Linear deubiquitinase | OTULIN | ACTIVATION | AMYLOPECTINOSIS | NF-kappa B pathway | UBIQUITIN | MULTIDISCIPLINARY SCIENCES | linear deubiquitinase | ASSEMBLY COMPLEX | CELL-DEATH | HOIP | SHARPIN | autoinflammatory disease | INFLAMMATION | LUBAC DEFICIENCY | cytokines | IMMUNODEFICIENCY | Fibroblasts - enzymology | Humans | NF-kappa B - immunology | Child, Preschool | Male | Fever - physiopathology | Leukocytes, Mononuclear - immunology | HEK293 Cells | Female | Child | Cytokines - genetics | Failure to Thrive - physiopathology | Hereditary Autoinflammatory Diseases - pathology | Cytokines - immunology | Dermatitis - physiopathology | Signal Transduction | Hereditary Autoinflammatory Diseases - enzymology | Gene Expression Regulation | Ubiquitin - genetics | Endopeptidases - deficiency | Hereditary Autoinflammatory Diseases - diagnosis | Fibroblasts - pathology | Endopeptidases - immunology | Leukocytes, Mononuclear - pathology | Endopeptidases - genetics | NF-kappa B - genetics | Pedigree | Age of Onset | Alleles | Fibroblasts - immunology | Leukocytes, Mononuclear - enzymology | Panniculitis - physiopathology | Consanguinity | Mutation | Ubiquitin - immunology | Hereditary Autoinflammatory Diseases - genetics | Allelomorphism | Genetic aspects | Gene mutations | Autoimmune diseases | Health aspects | Molecules | Genes | Cells | Index Medicus | Biological Sciences | NF-κB pathway
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2010, Volume 42, Issue 8, pp. 698 - 702
Journal Article
Nature genetics, ISSN 1061-4036, 2010, Volume 42, Issue 6, pp. 508 - U56
Journal Article