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Journal of Leukocyte Biology, ISSN 0741-5400, 10/2017, Volume 102, Issue 4, pp. 965 - 976
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 04/2019, Volume 78, Issue 4, pp. 571 - 573
Correspondence to Dr Despina Eleftheriou, Infection, Inflammation and Rheumatology Section, UCL Great Ormond Street Institute of Child Health, London, UK;... 
autoinflammation | hypereosinophilia | MEFV | pyrin | PROTEIN | RHEUMATOLOGY | PYRIN | Phosphorylation | Serine | Childrens health | Leukocytes (mononuclear) | Leukocytes (neutrophilic) | Heredity | Grants | Patients | Fever | Lipopolysaccharides | Proteins | 14-3-3 protein | Hospitals | Transfection | Pyrin protein | Biopsy | Cell lines | Peripheral blood mononuclear cells | Skin diseases | Ligands | Mutation | Chemokines | Binding sites | Letter | 2311 | 1506
Journal Article
Journal Article
Journal Article
European Medical Journal Hematology, 08/2017, Volume 5, Issue 1, pp. 80 - 86
The actin cytoskeleton plays many important roles in the lifecycle of platelets, from biogenesis from megakaryocytes, to activation and clearance from the... 
thrombocytopenia | megakaryocytes (MK) | Wiskott–Aldrich syndrome (WAS) | Actin cytoskeleton (AC) | platelets
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2017, Volume 12, Issue 7, p. e0181874
Journal Article
Pediatrics, ISSN 0031-4005, 01/2017, Volume 139, Issue 1, pp. e1 - e1
Juvenile systemic lupus erythematosus (jSLE) is rare before 5 years of age. Monogenic causes are suspected in cases of very early onset jSLE particularly in... 
Journal Article
Pediatrics, ISSN 0031-4005, 01/2017, Volume 139, Issue 1, p. e1
  Juvenile systemic lupus erythematosus (jSLE) is rare before 5 years of age. Monogenic causes are suspected in cases of very early onset jSLE particularly in... 
Lupus | Proteins | Medical treatment | Mutation | Medical diagnosis
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 01/2014, Volume 66, Issue 1, pp. 197 - 202
Objective To identify the genetic cause of chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) using whole‐exome sequencing in a child... 
Exome | Carrier Proteins - genetics | Cryopyrin-Associated Periodic Syndromes - genetics | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Male | Mosaicism | Child | Sequence Analysis, DNA | Mutation, Missense - genetics | Genes | Mutation
Journal Article
Clinical and Translational Allergy, ISSN 2045-7022, 09/2013, Volume 3, Issue 1, pp. 1 - 7
Steady progress in our understanding of the genetic basis of autoinflammatory diseases has been made over the past 16 years. Since the discovery of the... 
CANDLE | Genetic mapping | Autoinflammatory diseases | NGS | CAPS | Genetic aspects | Information management | Analysis | Genes
Journal Article
Arthritis and Rheumatology, ISSN 2326-5191, 2014, Volume 66, Issue 1, pp. 197 - 202
Objective. To identify the genetic cause of chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) using whole-exome sequencing in a... 
MUCKLE-WELLS-SYNDROME | GENETIC-VARIANTS | MUTATIONS | RHEUMATOLOGY | GALAXY | Brief Report
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
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