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1. Full Text Langerhans cell histiocytosis: therapeutic strategy and outcome in a 30‐year nationwide cohort of 1478 patients under 18 years of age
by Rigaud, Charlotte and Barkaoui, Mohamed A and Thomas, Caroline and Bertrand, Yves and Lambilliotte, Anne and Miron, Jean and Aladjidi, Nathalie and Plat, Geneviève and Jeziorski, Eric and Galambrun, Claire and Mansuy, Ludovic and Lutz, Patrick and Deville, Anne and Armari‐Alla, Corinne and Reguerre, Yves and Fraitag, Sylvie and Coulomb, Aurore and Gandemer, Virginie and Leboulanger, Nicolas and Moshous, Despina and Hoang‐Xuan, Khe and Tazi, Abdellatif and Heritier, Sébastien and Emile, Jean‐François and Donadieu, Jean and Kebaili, Kamila and Brugières, Laurence and Mazingue, Françoise and Pacquement, Hélène and Mary, Pierre and Jouve, Luc and Journé, Alexandre and Glorion, Christophe and Coze, Carole and Zerah, Michel and Leverger, Guy and Chastagner, Pascal and Moine, Philippe and Minckes, Odile and Lutun, Anne and Piguet, Christophe and Blouin, Pascale and Stephan, Louis and Pellier, Isabelle and Millot, Fréderic and Kanold, Justyna and Beaussant, Cohen and Lescoeur, Brigitte and Brousse, Nicole and Haroche, Julien and Genereau, Thierry and Munzer, Martine and Bugnet, Emmanuelle and Couillault, Gerard and Neven, Bénédicte and Lepointe, Ducou and Polak, Michel and Rybojad, Michel and Bodemer, Christine and Debray, Dominique and Devoldere, Catherine and Li‐Thiao‐Te, Valerie and Gourmel, Antoine and Pautard, Brigitte and Proust, Stephanie and Brasme, Francois and Rialland, Xavier and Plouvier, Emmanuel and Micheau, Magui and Perel, Yves and Verite, Cecile and Ducassou, Stephane and Carausu, Liana and Deparis, Marianna and Bodet, Damien and Dore, Eric and Demeocq, Francois and Briandet, Claire and Plantaz, Dominique and Pagnier, Anne and Adjaoud, Dalila and Nelken, Brigitte and Oudot, Caroline and Berard, Perrine and Dony, Arthur and Philippe, Noel and Gentet, Claude and Rome, Angelique and Herrmann, Iris and Michel, Gerard and Sirvent, Nicolas and Tichit, Renaud and Schmitt, Claudine and Sommelet, Danielle and Mechineau, Francoise and Bellmann, Francoise and Poiree, Maryline and Soler, Christine and Fasola, Sylvie and Auvrignon, Anne and ...
British Journal of Haematology, ISSN 0007-1048, 09/2016, Volume 174, Issue 6, pp. 887 - 898
Summary The French national cohort of children with Langerhans cell histiocytosis (LCH) has included 1478 patients since it was established in 1983. LCH... 
langerhans cell histiocytosis | cohort study | historical comparisons | Historical comparisons | Langerhans cell histiocytosis | Cohort study | DIAGNOSIS | HEMATOLOGY | CHILDHOOD | TRANSPLANTATION | France - epidemiology | Histiocytosis, Langerhans-Cell - mortality | Age Factors | Follow-Up Studies | Standard of Care | Histiocytosis, Langerhans-Cell - diagnosis | Humans | Child, Preschool | Infant | Male | Treatment Outcome | Combined Modality Therapy | Histiocytosis, Langerhans-Cell - epidemiology | Histiocytosis, Langerhans-Cell - therapy | Adolescent | Survival Analysis | Female | Child | Population Surveillance | Infant, Newborn | Cohort Studies | Histiocytosis | Patient outcomes | Analysis
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2. Full Text New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children
by Nathalie Aladjidi and Guy Leverger and Thierry Leblanc and Marie Quitterie Picat and Gérard Michel and Yves Bertrand and Brigitte Bader-Meunier and Alain Robert and Brigitte Nelken and Virginie Gandemer and Hélène Savel and Jean Louis Stephan and Fanny Fouyssac and Julien Jeanpetit and Caroline Thomas and Pierre Rohrlich and André Baruchel and Alain Fischer and Geneviève Chêne and Y. Perel and Ctr Reference Natl Cytopenies and Centre de Référence National des Cytopénies Auto-immunes de l'Enfant (CEREVANCE) and for the Centre de Reference National des Cytopenies Auto-immunes de l'Enfant (CEREVANCE)
Haematologica, ISSN 0390-6078, 05/2011, Volume 96, Issue 5, pp. 655 - 663
Background Autoimmune hemolytic anemia is a rare condition in children. Little is known about its initial presentation and the subsequent progression of the... 
Rare diseases | Children | Autoimmune hemolytic anemia | Prognostic factors | Evans' syndrome | CRITERIA | FAMILIAL EVANS-SYNDROME | prognostic factors | GIANT-CELL HEPATITIS | FEATURES | rare diseases | children | autoimmune hemolytic anemia | LYMPHOPROLIFERATIVE SYNDROME | THROMBOCYTOPENIC PURPURA | MUTATIONS | HEMATOLOGY | IMMUNODEFICIENCY | Multivariate Analysis | France - epidemiology | Prognosis | Humans | Child, Preschool | Infant | Male | Outcome Assessment (Health Care) - statistics & numerical data | Anemia, Hemolytic, Autoimmune - epidemiology | Anemia, Hemolytic, Autoimmune - therapy | Registries - statistics & numerical data | Adolescent | Anemia, Hemolytic, Autoimmune - diagnosis | Female | Health Surveys - statistics & numerical data | Child | Infant, Newborn | Life Sciences | Evans’ syndrome | Original
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3. Full Text Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173 -activating mutations in 3 children
by Frémond, Marie-Louise, MD and Rodero, Mathieu Paul, PhD and Jeremiah, Nadia, PhD and Belot, Alexandre, MD, PhD and Jeziorski, Eric, MD and Duffy, Darragh, PhD and Bessis, Didier, MD and Cros, Guilhem, MD and Rice, Gillian I., PhD and Charbit, Bruno, MSc and Hulin, Anne, PharmD, PhD and Khoudour, Nihel, MD and Caballero, Consuelo Modesto, MD and Bodemer, Christine, MD, PhD and Fabre, Monique, MD and Berteloot, Laureline, MD and Le Bourgeois, Muriel, MD and Reix, Philippe, MD and Walzer, Thierry, PhD and Moshous, Despina, MD, PhD and Blanche, Stéphane, MD, PhD and Fischer, Alain, MD, PhD and Bader-Meunier, Brigitte, MD and Rieux-Laucat, Fréderic, PhD and Crow, Yanick Joseph, MD, PhD and Neven, Bénédicte, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1752 - 1755
  The patients, aged between 5 and 12 years, exhibited the phenotypic variability associated with TMEM173-activating mutations,2-4 with lung disease and... 
Allergy and Immunology | ALLERGY | AICARDI-GOUTIERES SYNDROME | IMMUNOLOGY | Pyrazoles - therapeutic use | Membrane Proteins - genetics | Humans | Janus Kinase 2 - genetics | Child, Preschool | Male | Janus Kinase 1 - antagonists & inhibitors | Mutation - genetics | Protein Kinase Inhibitors - therapeutic use | Janus Kinase 1 - genetics | Female | Child | Janus Kinase 2 - antagonists & inhibitors | Autoimmunity | Immunogenetics | Dendritic cells | Genomics | Hospices (Terminal care) | Mutual fund industry | Genetic aspects | Phosphorylation | Disease | Lymphocytes | Mortality | Inflammation | Mutation | Drug dosages | Patients | Life Sciences | Microbiology and Parasitology | Immunology | Bacteriology | Virology
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4. Full Text Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
by Jeremiah, Nadia and Neven, Bénédicte and Gentili, Matteo and Callebaut, Isabelle and Maschalidi, Sophia and Stolzenberg, Marie-Claude and Goudin, Nicolas and Frémond, Marie-Louis and Nitschke, Patrick and Molina, Thierry J and Blanche, Stéphane and Picard, Capucine and Rice, Gillian I and Crow, Yanick J and Manel, Nicolas and Fischer, Alain and Bader-Meunier, Brigitte and Rieux-Laucat, Frédéric
Journal of Clinical Investigation, ISSN 0021-9738, 12/2014, Volume 124, Issue 12, pp. 5516 - 5520
Innate immunity to viral infection involves induction of the type I IFN response; however, dysfunctional regulation of this pathway leads to inappropriate... 
MEDICINE, RESEARCH & EXPERIMENTAL | AICARDI-GOUTIERES-SYNDROME | INTERFERON | RECOGNITION | TREX1 | ADAPTER | CYTOSOLIC DNA | CYCLIC DI-GMP | SAMHD1 | CYTOPLASMIC DNA | REVEALS | Humans | Genetic Diseases, Inborn - genetics | Immunity, Innate - genetics | Child, Preschool | Protein Multimerization - immunology | Male | Genetic Diseases, Inborn - pathology | Interferon Type I - immunology | Adaptive Immunity - genetics | Signal Transduction - immunology | Lupus Erythematosus, Systemic - immunology | Protein Multimerization - genetics | Adult | Female | Genetic Diseases, Inborn - immunology | Signal Transduction - genetics | Syndrome | Membrane Proteins | Lupus Erythematosus, Systemic - genetics | Nucleotides, Cyclic - genetics | Interferon Type I - genetics | Aged | Mutation | Lupus Erythematosus, Systemic - pathology | Nucleotides, Cyclic - immunology | Systemic lupus erythematosus | Gene mutations | DNA | Physiological aspects | Genetic aspects | Research | Health aspects | Risk factors | Lupus | Proteins | Studies | Lung diseases | Ligands | Patients | Viral infections | Deoxyribonucleic acid--DNA | Brief Report
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5. Full Text Myogenic Progenitor Cells Exhibit Type I Interferon–Driven Proangiogenic Properties and Molecular Signature During Juvenile Dermatomyositis
by Gitiaux, Cyril and Latroche, Claire and Weiss‐Gayet, Michèle and Rodero, Mathieu P and Duffy, Darragh and Bader‐Meunier, Brigitte and Glorion, Christophe and Nusbaum, Patrick and Bodemer, Christine and Mouchiroud, Guy and Chelly, Jamel and Germain, Stéphane and Desguerre, Isabelle and Chazaud, Bénédicte
Arthritis & Rheumatology, ISSN 2326-5191, 01/2018, Volume 70, Issue 1, pp. 134 - 145
Objective Juvenile dermatomyositis (JDM) is an inflammatory pediatric myopathy characterized by focal capillary loss in muscle, followed by progressive... 
ACTIVATION | ANGIOGENESIS | CHEMOKINES | ENDOTHELIAL-CELLS | RHEUMATOLOGY | SKELETAL-MUSCLE REGENERATION | UP-REGULATION | EXPRESSION | ASSOCIATION | CHILDHOOD | DISEASE-ACTIVITY | Drugs | Dermatomyositis | Muscles | Inflammation | Remodeling | Gene expression | Patients | Recovery | Muscular dystrophy | Skeletal muscle | Regeneration | Angiogenesis | Properties (attributes) | Vascular diseases | Biopsy | Human performance | Duchenne's muscular dystrophy | Stem cells | Cells (biology) | In vivo methods and tests | Interferon | Dystrophy | Chemical synthesis | Myopathy | Life Sciences | Human health and pathology | Cardiology and cardiovascular system
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6. Full Text Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type i interferon signaling
by Rice, Gillian I and Del Toro Duany, Yoandris and Jenkinson, Emma M and Forte, Gabriella M. A and Anderson, Beverley H and Ariaudo, Giada and Bader-Meunier, Brigitte and Baildam, Eileen M and Battini, Roberta and Beresford, Michael W and Casarano, Manuela and Chouchane, Mondher and Cimaz, Rolando and Collins, Abigail E and Cordeiro, Nuno J. V and Dale, Russell C and Davidson, Joyce E and De Waele, Liesbeth and Desguerre, Isabelle and Faivre, Laurence and Fazzi, Elisa and Isidor, Bertrand and Lagae, Lieven and Latchman, Andrew R and Lebon, Pierre and Li, Chumei and Livingston, John H and Lourenço, Charles M and Mancardi, Maria Margherita and Masurel-Paulet, Alice and McInnes, Iain B and Menezes, Manoj P and Mignot, Cyril and O'Sullivan, James and Orcesi, Simona and Picco, Paolo P and Riva, Enrica and Robinson, Robert A and Rodriguez, Diana and Salvatici, Elisabetta and Scott, Christiaan and Szybowska, Marta and Tolmie, John L and Vanderver, Adeline and Vanhulle, Catherine and Vieira, Jose Pedro and Webb, Kate and Whitney, Robyn N and Williams, Simon G and Wolfe, Lynne A and Zuberi, Sameer M and Hur, Sun and Crow, Yanick J
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 5, pp. 503 - 509
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can... 
AICARDI-GOUTIERES-SYNDROME | DYSCHROMATOSIS SYMMETRICA HEREDITARIA | LUPUS | AUTOIMMUNITY | TREX1 | GENETICS & HEREDITY | DISORDERS | MICE | MDA5 FILAMENTS | DSRNA RECOGNITION | EXPRESSION SIGNATURE | Nervous System Malformations - immunology | Humans | Models, Molecular | Molecular Sequence Data | Signal Transduction - genetics | Interferon Type I - immunology | Mutation - genetics | Sequence Analysis, DNA | Interferon-Induced Helicase, IFIH1 | Microsatellite Repeats - genetics | Autoimmune Diseases of the Nervous System - immunology | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Analysis of Variance | Base Sequence | Autoimmune Diseases of the Nervous System - genetics | HEK293 Cells | Electrophoretic Mobility Shift Assay | Nervous System Malformations - genetics | Spectrum Analysis | DEAD-box RNA Helicases - chemistry | Real-Time Polymerase Chain Reaction | Cell receptors | Gene mutations | Interferon | Genetic aspects | Genetic regulation | Health aspects | Proteins | Studies | Genotype & phenotype | Hospitals | Biomedical research | Disease | Womens health | Pathogenesis | Families & family life | Genomes | Mutation
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7. Full Text Detection of interferon alpha protein reveals differential levels and cellular sources in disease
by Rodero, Mathieu P and Decalf, Jérémie and Bondet, Vincent and Hunt, David and Rice, Gillian I and Werneke, Scott and McGlasson, Sarah L and Alyanakian, Marie-Alexandra and Bader-Meunier, Brigitte and Barnerias, Christine and Bellon, Nathalia and Belot, Alexandre and Bodemer, Christine and Briggs, Tracy A and Desguerre, Isabelle and Frémond, Marie-Louise and Hully, Marie and van den Maagdenberg, Arn M.J.M and Melki, Isabelle and Meyts, Isabelle and Musset, Lucile and Pelzer, Nadine and Quartier, Pierre and Terwindt, Gisela M and Wardlaw, Joanna and Wiseman, Stewart and Rieux-Laucat, Frédéric and Rose, Yoann and Neven, Bénédicte and Hertel, Christina and Hayday, Adrian and Albert, Matthew L and Rozenberg, Flore and Crow, Yanick J and Duffy, Darragh
Journal of Experimental Medicine, ISSN 0022-1007, 05/2017, Volume 214, Issue 5, pp. 1547 - 1555
Type I interferons (IFNs) are essential mediators of antiviral responses. These cytokines have been implicated in the pathogenesis of autoimmunity, most... 
AUTOANTIBODIES | MEDICINE, RESEARCH & EXPERIMENTAL | CELLS | SYSTEMIC-LUPUS-ERYTHEMATOSUS | VIRUS INTERFERENCE | DERMATOMYOSITIS | ASSAY | IMMUNOLOGY | BLOCKADE | INTRATHECAL SYNTHESIS | I INTERFERON | Enzyme-Linked Immunosorbent Assay - methods | Severity of Illness Index | T-Lymphocytes - metabolism | Humans | Interferon-alpha - blood | Interferon-alpha - cerebrospinal fluid | Sensitivity and Specificity | Interferon Regulatory Factors - blood | Interferon Regulatory Factors - cerebrospinal fluid | Lupus Erythematosus, Systemic - blood | Vesicular Stomatitis - immunology | Autoantibodies | Cytokines | Pathogenesis | Diabetes mellitus | Dermatomyositis | Gene expression | Patients | Proteins | α-Interferon | Chronic conditions | Systemic lupus erythematosus | Infectious diseases | Interferon | Digital technology | Coordination compounds | Autoimmune diseases | Enzyme-linked immunosorbent assay | Life Sciences | Immunology | 312 | 316 | 300
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8. Full Text The IgG2 Isotype of Anti–Transcription Intermediary Factor 1γ Autoantibodies Is a Biomarker of Cancer and Mortality in Adult Dermatomyositis
by Aussy, Audrey and Fréret, Manuel and Gallay, Laure and Bessis, Didier and Vincent, Thierry and Jullien, Denis and Drouot, Laurent and Jouen, Fabienne and Joly, Pascal and Marie, Isabelle and Meyer, Alain and Sibilia, Jean and Bader‐Meunier, Brigitte and Hachulla, Eric and Hamidou, Mohammed and Huë, Sophie and Charuel, Jean‐Luc and Fabien, Nicole and Viailly, Pierre‐Julien and Allenbach, Yves and Benveniste, Olivier and Cordel, Nadège and Boyer, Olivier and OncoMyositis Study Grp and OncoMyositis Study Group and the OncoMyositis Study Group
Arthritis & Rheumatology, ISSN 2326-5191, 08/2019, Volume 71, Issue 8, pp. 1360 - 1370
Objective Anti–transcription intermediary factor 1γ (anti‐TIF1γ) antibodies are the main predictors of cancer in dermatomyositis (DM). Yet, a substantial... 
ANTIBODIES | MALIGNANCY | REVISED CRITERIA | SUBCLASS DISTRIBUTION | POLYMYOSITIS | IDIOPATHIC INFLAMMATORY MYOPATHIES | CLINICAL-FEATURES | RHEUMATOLOGY | CLASSIFICATION CRITERIA | MYOSITIS | ASSOCIATION | Immunoassay | Creatine kinase | Immunoglobulin G | Sex | Antibodies | Fluorescence | Malignancy | Creatine | Multivariate analysis | Kinases | Risk factors | Regression models | Bioindicators | Age | Autoantibodies | Mortality | Dermatomyositis | Health risks | Hazards | Regression analysis | Risk analysis | Survival | Men | Biomarkers | Cancer
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9. Full Text Consensus-based recommendations for the management of juvenile dermatomyositis
by Enders, Felicitas Bellutti and Bader-Meunier, Brigitte and Baildam, Eileen and Constantin, Tamas and Dolezalova, Pavla and Feldman, Brian M and Lahdenne, Pekka and Magnusson, Bo and Nistala, Kiran and Ozen, Seza and Pilkington, Clarissa and Ravelli, Angelo and Russo, Ricardo and Uziel, Yosef and van Brussel, Marco and van der Net, Janjaap and Vastert, Sebastiaan and Wedderburn, Lucy R and Wulffraat, Nicolaas and McCann, Liza J and van Royen-Kerkhof, Annet
Annals of the Rheumatic Diseases, ISSN 0003-4967, 02/2017, Volume 76, Issue 2, pp. 329 - 340
BackgroundIn 2012, a European initiative called Single Hub and Access point for pediatric Rheumatology in Europe (SHARE) was launched to optimise and... 
MHC CLASS-I | CHILDHOOD RHEUMATIC-DISEASES | MYOSITIS ASSESSMENT SCALE | INTERNATIONAL CONSENSUS | STANDARDIZED OPERATING PROCEDURES | IDIOPATHIC INFLAMMATORY MYOPATHIES | TERM-FOLLOW-UP | RHEUMATOLOGY | VON-WILLEBRAND-FACTOR | CUTANEOUS ASSESSMENT-TOOL | CLINICALLY INACTIVE DISEASE | Glucocorticoids - therapeutic use | Europe | Humans | Immunosuppressive Agents - therapeutic use | Dermatomyositis - diagnosis | Methotrexate - therapeutic use | Evidence-Based Medicine | Exercise Therapy | Sunscreening Agents - therapeutic use | Dermatomyositis - therapy | Cyclosporine - therapeutic use | Rituximab - therapeutic use | Mycophenolic Acid - therapeutic use | Societies, Medical | Patient Care Team - organization & administration | Prednisolone - therapeutic use | Practice Guidelines as Topic | Recommendations | Treatment | 1506 | Autoimmune Diseases | Dermatomyositis
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10. Full Text Challenges of Diagnosing Cognitive Dysfunction With Neuropsychiatric Systemic Lupus Erythematosus in Childhood
by AlE'ed, Ashwaq and Vega‐Fernandez, Patricia and Muscal, Eyal and Hinze, Claas H and Tucker, Lori B and Appenzeller, Simone and Bader‐Meunier, Brigitte and Roth, Johannes and Torrente‐Segarra, Vicenç and Klein‐Gitelman, Marisa S and Levy, Deborah M and Roebuck‐Spencer, Tresa and Brunner, Hermine I and Carra Neuropsychiat Syst Lupus and CARRA Neuropsychiatric Systemic Lupus Erythematosus Working Group
Arthritis Care & Research, ISSN 2151-464X, 10/2017, Volume 69, Issue 10, pp. 1449 - 1459
The diagnosis of Neuropsychiatric systemic lupus erythematosus disease (NPSLE) is challenging. The Automated Neuropsychological Assessment Metrics (ANAM) has... 
GLUTAMATE-RECEPTOR | AMERICAN ACADEMY | TESTING AUTOMATED BATTERY | NEUROCOGNITIVE IMPAIRMENT | COMPUTERIZED ASSESSMENT | CLINICAL NEUROPSYCHOLOGY | NEUROPSYCHOLOGICAL ASSESSMENT METRICS | MENTAL-STATE-EXAMINATION | ANTIPHOSPHOLIPID ANTIBODIES | RHEUMATOLOGY | INITIAL VALIDATION | Neuroimaging | Predictive Value of Tests | Lupus Vasculitis, Central Nervous System - diagnosis | Humans | Risk Factors | Child, Preschool | Cognition | Lupus Vasculitis, Central Nervous System - psychology | Neuropsychological Tests | Cognition Disorders - diagnosis | Child Behavior | Adolescent | Age of Onset | Adolescent Behavior | Child | Cognition Disorders - epidemiology | Lupus Vasculitis, Central Nervous System - epidemiology | Cognition Disorders - psychology | Systemic lupus erythematosus | Children | Mental disorders | Neurological complications | Cognitive ability
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