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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
Journal of Genetic Counseling, ISSN 1059-7700, 11/2019
Journal Article
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 04/2018, Volume 77, Issue 4, pp. 612 - 619
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 09/2017, Volume 69, Issue 9, pp. 1832 - 1839
Journal Article
World Journal of Pediatrics, ISSN 1708-8569, 10/2019
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 09/2016, Volume 113, Issue 36, p. 10127
  Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by... 
Molecules | Cytokines | Genes | Mutation | Cells
Journal Article
by F. De Benedetti and J. Anton and M. Gattorno and H. Lachmann and I. Kone-Paut and S. Ozen and J. Frenkel and A. Simon and A. Zeft and E. Ben-Chetrit and H. M. Hoffman and Y. Joubert and K. Lheritier and A. Speziale and J. Guido and Roberta Caorsi and Federica Penco and Alice Grossi and Antonella Insalaco and Maria Alessio and Giovanni Conti and Federico Marchetti and Alberto Tommasini and Silvana Martino and Romina Gallizzi and Annalisa Salis and Francesca Schena and Francesco Caroli and Alberto Martini and Gianluca Damonte and Isabella Ceccherini and Marco Gattorno and Marie-Louise Frémond and Carolina Uggenti and Lien Van Eyck and Isabelle Melki and Darragh Duffy and Vincent Bondet and Yoann Rose and Bénédicte Neven and Yanick Crow and Mathieu P. Rodero and Yvonne Kusche and Johannes Roth and Katarzyna Barczyk-Kahlert and Giovanna Ferrara and Annalisa Chiocchetti and Silvio Polizzi and Josef Vuch and Diego Vozzi and Anna Mondino and Erica Valencic and Serena Pastore and Andrea Taddio and Flavio Faletra and Umberto Dianzani and Ugo Ramenghi and Alberto Tommasini and Qing Zhou and Xiaomin Yu and Erkan Demirkaya and Natalie Deuitch and Deborah Stone and Wanxia Tsai and Amanda Ombrello and Tina Romeo and Elaine F. Remmers and JaeJin Chae and Massimo Gadina and Steven Welch and Seza Ozen and Rezan Topaloglu and Mario Abinun and Daniel L. Kastner and Ivona Aksentijevich and Donatella Vairo and Rosalba Monica Ferraro and Giulia Zani and Jessica Galli and Micaela De Simone and Marco Cattalini and Elisa Fazzi and Silvia Giliani and Ebun Omoyinmi and Ariane Standing and Dorota Rowczenio and Annette Keylock and Sonia Melo Gomes and Fiona Price-Kuehne and Sira Nanthapisal and Claire Murphy and Thomas Cullup and Lucy Jenkins and Kimberly Gilmour and Despina Eleftheriou and Helen Lachmann and Philip Hawkins and Nigel Klein and Paul Brogan and Anita Dhanrajani and ...
Pediatric Rheumatology Online Journal, 05/2017, Volume 15, Issue S1, pp. 1 - 104
Journal Article
by De Benedetti, F and Anton, J and Gattorno, M and Lachmann, H and Kone-Paut, I and Ozen, S and Frenkel, J and Simon, A and Zeft, A and Ben-Chetrit, E and Hoffman, H. M and Joubert, Y and Lheritier, K and Speziale, A and Guido, J and Caorsi, Roberta and Penco, Federica and Grossi, Alice and Insalaco, Antonella and Alessio, Maria and Conti, Giovanni and Marchetti, Federico and Tommasini, Alberto and Martino, Silvana and Gallizzi, Romina and Salis, Annalisa and Schena, Francesca and Caroli, Francesco and Martini, Alberto and Damonte, Gianluca and Ceccherini, Isabella and Gattorno, Marco and Frémond, Marie-Louise and Uggenti, Carolina and Van Eyck, Lien and Melki, Isabelle and Duffy, Darragh and Bondet, Vincent and Rose, Yoann and Neven, Bénédicte and Crow, Yanick and Rodero, Mathieu P and Kusche, Yvonne and Roth, Johannes and Barczyk-Kahlert, Katarzyna and Ferrara, Giovanna and Chiocchetti, Annalisa and Polizzi, Silvio and Vuch, Josef and Vozzi, Diego and Mondino, Anna and Valencic, Erica and Pastore, Serena and Taddio, Andrea and Faletra, Flavio and Dianzani, Umberto and Ramenghi, Ugo and Zhou, Qing and Yu, Xiaomin and Demirkaya, Erkan and Deuitch, Natalie and Stone, Deborah and Tsai, Wanxia and Ombrello, Amanda and Romeo, Tina and Remmers, Elaine F and Chae, JaeJin and Gadina, Massimo and Welch, Steven and Ozen, Seza and Topaloglu, Rezan and Abinun, Mario and Kastner, Daniel L and Aksentijevich, Ivona and Vairo, Donatella and Ferraro, Rosalba Monica and Zani, Giulia and Galli, Jessica and De Simone, Micaela and Cattalini, Marco and Fazzi, Elisa and Giliani, Silvia and Omoyinmi, Ebun and Standing, Ariane and Rowczenio, Dorota and Keylock, Annette and Gomes, Sonia Melo and Price-Kuehne, Fiona and Nanthapisal, Sira and Murphy, Claire and Cullup, Thomas and Jenkins, Lucy and Gilmour, Kimberly and Eleftheriou, Despina and Lachmann, Helen and Hawkins, Philip and Klein, Nigel and Brogan, Paul and Dhanrajani, Anita and Chan, Mercedes and ... and On Behalf of the British Society for Paediatric and Adolescent Rheumatology and For the FMF Arthritis Vasculitis and Orphan Disease Research in Paediatric Rheumatology (FAVOR) and on behalf of ENCA and on behalf of EUROFEVER PROJECT and Working Group “Juvenile Dermatomyositis” of the German Society for Paediatric and Adolescent Rheumatology (GKJR) and Acute-JIA Study Group and ReACCh-Out Investigators and on behalf of Eurofever Registry and EPOCA Study Group and Board of the Swedish Pediatric Rheumatology Registry and GRIP study group and on behalf of PRINTO and Eurofever registry and International Childhood Arthritis Genetics (INCHARGE) Consortium and PRINTO/PRCSG and For Pediatric Rheumatology International Trials Organization (PRINTO)/Pediatric Rheumatology Collaborative Study Group (PRCSG) and on behalf of Dutch JIA patient organization and Pediatric Allergy and Immunology Unit, PGIMER, Chandigarh and ICON study group and BIKER collaborative group and Working Group of Behçet’s Disease, Pediatric Rheumatology Association of Japan (PRAJ) and CAPS and on behalf of ReACCh-Out Investigators and GENIAL Investigators, UK JSLE Study Group and Juvenile Dermatomyositis Cohort and Biomarker Study (JCDBS) and Juvenile Dermatomyositis Research Group (JDRG)
Pediatric Rheumatology, ISSN 1546-0096, 05/2017, Volume 15, Issue S1
Journal Article
The CRISPR Journal, ISSN 2573-1599, 10/2019, Volume 2, Issue 5, pp. 324 - 330
Researchers are exploring the use of gene-editing technologies to prevent and/or treat genetic conditions in humans. Stakeholder views, including those of... 
Research Articles
Journal Article
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