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1. 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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2. Full Text Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling
by Melki, Isabelle, MD and Rose, Yoann, BSc and Uggenti, Carolina, PhD and Van Eyck, Lien, MD and Frémond, Marie-Louise, MD and Kitabayashi, Naoki, BSc and Rice, Gillian I., PhD and Jenkinson, Emma M., PhD and Boulai, Anaïs, BSc and Jeremiah, Nadia, PhD and Gattorno, Marco, MD and Volpi, Sefano, MD, PhD and Sacco, Olivero, MD and Terheggen-Lagro, Suzanne W.J., MD and Tiddens, Harm A.W.M., MD, PhD and Meyts, Isabelle, MD, PhD and Morren, Marie-Anne, MD and De Haes, Petra, MD, PhD and Wouters, Carine, MD, PhD and Legius, Eric, MD, PhD and Corveleyn, Anniek, PhD and Rieux-Laucat, Frederic, PhD and Bodemer, Christine, MD, PhD and Callebaut, Isabelle, PhD and Rodero, Mathieu P., PhD and Crow, Yanick J., MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 140, Issue 2, pp. 543 - 552.e5
Background Gain-of-function mutations in transmembrane protein 173 (TMEM173) encoding stimulator of interferon genes (STING) underlie a recently described type... 
Allergy and Immunology | type I interferonopathy | Stimulator of interferon genes (STING) | TMEM173 | interferon | STING-associated vasculopathy with onset in infancy | FUSION | ALLERGY | PHOSPHORYLATION | TRIGGER | ADAPTER | IMMUNOLOGY | TMEM173 interferon | REVEALS | Signal Transduction | Membrane Proteins - genetics | Humans | Male | STAT1 Transcription Factor - metabolism | Adolescent | HEK293 Cells | Inflammation - genetics | Interferon Type I - genetics | Interferon Type I - metabolism | Adult | Female | Mutation | Child | Amino Acid Substitution | Autoimmunity | Genetic aspects | Interferon | Hospitals | Biological response modifiers | Analysis | RNA viruses | Membrane fusion | Phosphorylation | Disease | Lung diseases | Amino acids | Viruses | Kinases | Ribonucleic acid--RNA | Patients | Proteins | Pathology | Cytometry | Vascular diseases | Mutagenesis | Genetic analysis | Janus kinase | Skin diseases | Lesions | Deoxyribonucleic acid--DNA | Structural analysis
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3. Full Text Circulating endothelial cells as markers of endothelial dysfunction during hematopoietic stem cell transplantation for pediatric primary immunodeficiency
by Touzot, Fabien, MD, PhD and Moshous, Despina, MD, PhD and Cros, Guilhem, MD and Frange, Pierre, MD, PhD and Chomton, Maryline, MD and Frémond, Marie-Louise, MD and Neven, Bénédicte, MD, PhD and Cavazzana, Marina, MD, PhD and Fischer, Alain, MD, PhD and Blanche, Stéphane, MD and Helley, Dominique, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 5, pp. 1203 - 1206
  The CEC count was persistently higher at day 30 in patients with VE (median = 98/mL; range: 1-548) as compared to patients without VE (median = 4/mL; range:... 
Allergy and Immunology | ALLERGY | DAMAGE | IMMUNOLOGY | Endothelial Cells - metabolism | Humans | Child, Preschool | Infant | Male | Common Variable Immunodeficiency - blood | Stem Cell Transplantation | Allografts | Common Variable Immunodeficiency - therapy | Adolescent | Female | Endothelial Cells - pathology | Child | Pediatrics | Transplantation | Hematopoietic stem cells | Stem cells | Immunodeficiency | Endothelium | Bone marrow | Cytomegalovirus | Transplants & implants | Metabolic disorders
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4. Full Text Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease
by Rice, Gillian I and Rice, Gillian I and Melki, Isabelle and Melki, Isabelle and Frémond, Marie-Louise and Frémond, Marie-Louise and Briggs, Tracy A and Briggs, Tracy A and Rodero, Mathieu P and Rodero, Mathieu P and Kitabayashi, Naoki and Kitabayashi, Naoki and Oojageer, Anthony and Oojageer, Anthony and Bader-Meunier, Brigitte and Bader-Meunier, Brigitte and Belot, Alexandre and Belot, Alexandre and Bodemer, Christine and Bodemer, Christine and Quartier, Pierre and Quartier, Pierre and Crow, Yanick J and Crow, Yanick J
Journal of Clinical Immunology, ISSN 0271-9142, 2/2017, Volume 37, Issue 2, pp. 123 - 132
Increased type I interferon is considered relevant to the pathology of a number of monogenic and complex disorders spanning pediatric rheumatology, neurology,... 
Medical Microbiology | Biomedicine | Immunology | autoinflammatory disease | interferonopathy | autoinflammation | Infectious Diseases | Internal Medicine | Interferon | JUVENILE IDIOPATHIC ARTHRITIS | RIG-I | ALPHA | PERIPHERAL-BLOOD | IMMUNOLOGY | SIGNATURE | DEFICIENCY | AICARDI-GOUTIERES-SYNDROME | MUTATIONS | EXPRESSION | CYSTIC LEUKOENCEPHALOPATHY | Age Factors | Humans | Middle Aged | Interferon Regulatory Factors - metabolism | Child, Preschool | Infant | Male | Gene Expression Profiling | Case-Control Studies | Young Adult | Inflammation - metabolism | Aged, 80 and over | Interferon Type I - metabolism | Adult | Female | Inflammation - diagnosis | Child | Infant, Newborn | Genetic Association Studies | Signal Transduction | Gene Expression Regulation | Interferon Regulatory Factors - genetics | Genotype | Inflammation - etiology | Phenotype | Adolescent | Biomarkers | Aged | Autoimmunity | Pediatrics | Analysis | Children | Biological response modifiers | Diseases | Life Sciences | Microbiology and Parasitology | Bacteriology | Virology | Original
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5. Full Text Inherited immunodeficiency: A new association with early-onset childhood panniculitis
by Bader-Meunier, Brigitte and Rieux-Laucat, Frederic and Touzot, Fabien and Fremond, Marie-Louise and Andre-Schmutz, Isabelle and Fraitag, Sylvie and Bodemer, Christine
Pediatrics, ISSN 0031-4005, 04/2018, Volume 141, Issue Suppl 5, pp. S496 - S500
We report on 4 children who presented with aseptic panniculitis associated with inherited immunodeficiency. Three patients had a B-cell immunodeficiency... 
PEDIATRICS | MUTATIONS | Immunologic Deficiency Syndromes - therapy | Immunologic Deficiency Syndromes - complications | Humans | Child, Preschool | Infant | Male | Panniculitis - complications | B-Lymphocytes - immunology | Immunoglobulins, Intravenous - therapeutic use | NF-kappa B p52 Subunit - genetics | Bone Marrow Transplantation - adverse effects | Immunologic Deficiency Syndromes - genetics | Nucleotidyltransferases - genetics | Female | Panniculitis - immunology | T-Lymphocytes - immunology | Lymphocyte Specific Protein Tyrosine Kinase p56(lck) - genetics | Mutation | Postoperative Complications | Complications and side effects | Gene mutations | Immunodeficiency | Panniculitis | Research | T cells | Risk factors
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