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Pediatric Nephrology, ISSN 0931-041X, 12/2019, Volume 34, Issue 12, pp. 2449 - 2456
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2009, Volume 106, Issue 45, pp. 19096 - 19101
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 05/2011, Volume 121, Issue 5, pp. 2013 - 2024
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some... 
MEDICINE, RESEARCH & EXPERIMENTAL | OXIDATIVE STRESS | GENE | COENZYME-Q BIOSYNTHESIS | DIPHOSPHATE SYNTHASE SUBUNIT-2 | NPHS2 | GLOMERULAR PROTEIN | UBIQUINONE BIOSYNTHESIS | COQ DEFICIENCY | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | SACCHAROMYCES-CEREVISIAE | Deafness | Gene mutations | Genetic aspects | Nephrotic syndrome | Research | Health aspects | Risk factors
Journal Article
Nature Reviews Rheumatology, ISSN 1759-4790, 11/2015, Volume 11, Issue 11, pp. 625 - 626
Journal Article
Best Practice & Research Clinical Rheumatology, ISSN 1521-6942, 04/2018, Volume 32, Issue 2, pp. 254 - 260
Autoinflammatory diseases (AIDs) are diseases of the innate immune system, with clinical and laboratory evidence of attacks of inflammation. The more common... 
Autoinflammatory diseases | Epidemiology | Familial Mediterranean fever | CRITERIA | DIAGNOSIS | FREQUENCY | VALIDATION | PREVALENCE | MUTATIONS | RHEUMATOLOGY | DEFINE | SEVERITY | Genetic aspects
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 | Biological Sciences | NF-κB pathway
Journal Article
Pediatric nephrology (Berlin, Germany), 12/2018
The pathogenesis of autoinflammatory diseases has shed light on the concept of inflammation in general and on our understanding of the role of the innate... 
Journal Article
Frontiers in Immunology, ISSN 1664-3224, 03/2017, Volume 8, p. 253
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 Özen, 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 Hilario, Maria Odete E and Oliveira, Sheila and Yeung, Rae S M and Rosenberg, Alan M and Wedderburn, Lucy R and Anton, 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, Elisa and Estivill, Xavier and Gül, Ahmet and Langefeld, Carl D and Thompson, Susan and Zeggini, Eleftheria and Kastner, Daniel L and Woo, Patricia and Thomson, Wendy and Childhood Arthrit Prospective Stud and Randomized Placebo Phase Study Ril and Biologically Based Outcome Predict and Inception Cohort Newly Diagnosed P and Sparks-Childhood Arthrit Response and British Soc Pediat Adolescent Rheu and British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group, Inception Cohort of Newly Diagnosed Patients with Juvenile Idiopathic Arthritis (ICON-JIA) Study Group, Childhood Arthritis Prospective Study (CAPS) Group, Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators, Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group, Biologically Based Outcome Predictors in JIA (BBOP) Group
Annals of the Rheumatic Diseases, ISSN 0003-4967, 05/2017, Volume 76, Issue 5, pp. 906 - 913
Journal Article
Nature Reviews Rheumatology, ISSN 1759-4790, 11/2015, Volume 11, Issue 11, pp. 625 - 626
The study of rheumatic diseases that affect children has thrived in the past 10 years. A look at several important advances in this area illustrates how... 
DISEASES | RHEUMATOLOGY | CLASSIFICATION CRITERIA | JUVENILE IDIOPATHIC ARTHRITIS | Rheumatology - trends | Time Factors | Child | Humans | Rheumatic Diseases - therapy
Journal Article
Journal of Inflammation Research, ISSN 1178-7031, 03/2016, Volume 9, pp. 13 - 20
Familial Mediterranean fever (FMF) is the most frequent monogenic autoinflammatory disease, and it is characterized by recurrent attacks of fever and... 
Child | Recommendation | Familial meditarranean fever | Familial Mediterranean fever | Genetic aspects | Research | Gene mutations | Risk factors | Genotype & phenotype | Pediatrics | Pathogenesis | Rheumatology | Inflammation | Arthritis | Mutation | Fever
Journal Article
by Ombrello, Michael J and Remmers, Elaine F and Tachmazidou, Ioanna and Grom, Alexei and Foell, Dirk and Haas, Johannes-Peter and Martini, Alberto and Gattorno, Marco and Özen, Seza and Prahalad, Sampath and Zeft, Anew S and Bohnsack, John F and Mellins, Elizabeth D and Ilowite, Norman T and Russo, Ricardo and Len, Claudio and Hilario, Maria Odete E and Oliveira, Sheila and Yeung, Rae S M and Rosenberg, Alan and Wedderburn, Lucy R and Anton, Jordi and Schwarz, Tobias and Hinks, Anne and Bilginer, Yelda and Park, Jane and Cobb, Joanna and Satorius, Colleen L and Han, Buhm and Baskin, Elizabeth and Signa, Sara and Duerr, Richard H and Achkar, J P 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, Elisa and Estivill, Xavier and Gül, Ahmet and de Bakker, Paul I W and Raychaudhuri, Soumya and Langefeld, Carl D and Thompson, Susan and Zeggini, Eleftheria and Thomson, Wendy and Kastner, Daniel L and Woo, Patricia and Int Childhood Arthritis Genetics and BSPAR Study Grp and BBOP Grp and Randomized Placebo Phase Study and CHARMS Grp and Childhood Arthritis Prospective Study (CAPS) Group and International Childhood Arthritis Genetics (INCHARGE) Consortium and British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study 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
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2015, Volume 112, Issue 52, pp. 15970 - 15975
Journal Article