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1. Full Text Mendelian susceptibility to mycobacterial disease: 2014–2018 update
by Rosain, Jérémie and Kong, Xiao‐Fei and Martinez‐Barricarte, Ruben and Oleaga‐Quintas, Carmen and Ramirez‐Alejo, Noé and Markle, Janet and Okada, Satoshi and Boisson‐Dupuis, Stéphanie and Casanova, Jean‐Laurent and Bustamante, Jacinta
Immunology and cell biology, ISSN 0818-9641, 04/2019, Volume 97, Issue 4, pp. 360 - 367
primary immunodeficiency | mycobacterium | IFN‐γ | next‐generation sequencing | IFN-γ | next-generation sequencing | Immunology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Geography | Genetic Predisposition to Disease | Humans | Mycobacterium Infections - genetics | Alleles | Genetic Loci | Mutation - genetics | Tyk2 protein | Clinical aspects | Phenotypes | Peptidase | Etiology | Signal peptide peptidase | Janus kinase | Interferon | Index Medicus | Mycobacterium
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2. Full Text Autoantibodies against type I IFNs in patients with life-threatening COVID-19
by Bastard, Paul and Rosen, Lindsey B and Zhang, Qian and Michailidis, Eleftherios and Hoffmann, Hans-Heinrich and Zhang, Yu and Dorgham, Karim and Philippot, Quentin and Rosain, Jérémie and Béziat, Vivien and Manry, Jérémy and Shaw, Elana and Haljasmägi, Liis and Peterson, Pärt and Lorenzo, Lazaro and Bizien, Lucy and Trouillet-Assant, Sophie and Dobbs, Kerry and de Jesus, Adriana Almeida and Belot, Alexandre and Kallaste, Anne and Catherinot, Emilie and Tandjaoui-Lambiotte, Yacine and Le Pen, Jeremie and Kerner, Gaspard and Bigio, Benedetta and Seeleuthner, Yoann and Yang, Rui and Bolze, Alexandre and Spaan, András N and Delmonte, Ottavia M and Abers, Michael S and Aiuti, Alessandro and Casari, Giorgio and Lampasona, Vito and Piemonti, Lorenzo and Ciceri, Fabio and Bilguvar, Kaya and Lifton, Richard P and Vasse, Marc and Smadja, David M and Migaud, Mélanie and Hadjadj, Jérome and Terrier, Benjamin and Duffy, Darragh and Quintana-Murci, Lluis and van de Beek, Diederik and Roussel, Lucie and Vinh, Donald C and Tangye, Stuart G and Haerynck, Filomeen and Dalmau, David and Martinez-Picado, Javier and Brodin, Petter and Nussenzweig, Michel C and Boisson-Dupuis, Stéphanie and Rodríguez-Gallego, Carlos and Vogt, Guillaume and Mogensen, Trine H and Oler, Andrew J and Gu, Jingwen and Burbelo, Peter D and Cohen, Jeffrey I and Biondi, Andrea and Bettini, Laura Rachele and D'Angio, Mariella and Bonfanti, Paolo and Rossignol, Patrick and Mayaux, Julien and Rieux-Laucat, Frédéric and Husebye, Eystein S and Fusco, Francesca and Ursini, Matilde Valeria and Imberti, Luisa and Sottini, Alessandra and Paghera, Simone and Quiros-Roldan, Eugenia and Rossi, Camillo and Castagnoli, Riccardo and Montagna, Daniela and Licari, Amelia and Marseglia, Gian Luigi and Duval, Xavier and Ghosn, Jade and Tsang, John S and Goldbach-Mansky, Raphaela and Kisand, Kai and Lionakis, Michail S and Puel, Anne and Zhang, Shen-Ying and Holland, Steven M and Gorochov, Guy and Jouanguy, Emmanuelle and Rice, Charles M and Cobat, Aurélie and Notarangelo, Luigi D and Abel, Laurent and Su, Helen C and Casanova, Jean-Laurent and Amsterdam UMC Covid-19 Biobank and Milieu Interieur Consortium and COVID Clinicians and COVID-STORM Clinicians and Imagine COVID Grp and HGID Lab and NIAID-USUHS Immune Response COVID and French COVID Cohort Study Grp and CoV-Contact Cohort and COVID Human Genetic Effort and Milieu Intérieur Consortium and Imagine COVID Group and French COVID Cohort Study Group and NIAID-USUHS Immune Response to COVID Group
Science (American Association for the Advancement of Science), ISSN 0036-8075, 10/2020, Volume 370, Issue 6515, p. 423
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Pandemics | Immunoglobulin G - blood | Autoantibodies - blood | Humans | Middle Aged | Critical Illness | Male | Interferon Type I - immunology | Coronavirus Infections - immunology | Pneumonia, Viral - immunology | Case-Control Studies | COVID-19 | Asymptomatic Infections | SARS-CoV-2 | Aged, 80 and over | Betacoronavirus | Adult | Female | Aged | Interferon alpha-2 - immunology | Antibodies, Neutralizing - blood | Autoimmunity | Care and treatment | Autoantibodies | Severe acute respiratory syndrome | Coronaviruses | Epidemiology | Risk factors | Pneumonia | Immunoglobulins | Disease | Cytokines | Health risks | Antibodies | Infections | Asymptomatic | Vaccines | Severe acute respiratory syndrome coronavirus 2 | Infectious diseases | Respiratory diseases | Genetics | Mutation | Public health | Viral infections | Immune system | Index Medicus | Medicin och hälsovetenskap
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3. Full Text Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease
by Nekooie-Marnany, Nioosha and Deswarte, Caroline and Ostadi, Vajiheh and Bagherpour, Bahram and Taleby, Elaheh and Ganjalikhani-Hakemi, Mazdak and Le Voyer, Tom and Rahimi, Hamid and Rosain, Jérémie and Pourmoghadas, Zahra and Sheikhbahaei, Saba and Khoshnevisan, Razieh and Petersheim, Daniel and Kotlarz, Daniel and Klein, Christoph and Boisson-Dupuis, Stéphanie and Casanova, Jean-Laurent and Bustamante, Jacinta and Sherkat, Roya
Journal of clinical immunology, ISSN 0271-9142, 10/2018, Volume 38, Issue 7, pp. 787 - 793
(BCG)-osis | IL-12 | interferon | Mendelian susceptibility to mycobacterial disease | Bacillus Calmette–Guérin vaccination | Osteomyelitis | γ-Interferon | Interleukin 1 | BCG | Interleukin 12 | Interleukin 23 | Lymphocytes T | Mutation | Index Medicus | Bacillus Calmette-Guérin vaccination
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4. Full Text Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency
by Bastard, Paul and Manry, Jeremy and Chen, Jie and Rosain, Jérémie and Seeleuthner, Yoann and AbuZaitun, Omar and Lorenzo, Lazaro and Khan, Taushif and Hasek, Mary and Hernandez, Nicholas and Bigio, Benedetta and Zhang, Peng and Lévy, Romain and Shrot, Shai and Reino, Eduardo J Garcia and Lee, Yoon-Seung and Boucherit, Soraya and Aubart, Mélodie and Gijsbers, Rik and Béziat, Vivien and Li, Zhi and Pellegrini, Sandra and Rozenberg, Flore and Marr, Nico and Meyts, Isabelle and Boisson, Bertrand and Cobat, Aurélie and Bustamante, Jacinta and Zhang, Qian and Jouangy, Emmanuelle and Abel, Laurent and Somech, Raz and Casanova, Jean-Laurent and Zhang, Shen-Ying
The Journal of clinical investigation, ISSN 0021-9738, 01/2021, Volume 131, Issue 1, pp. 1 - 18
Rubella | Tyk2 protein | Phosphorylation | β-Interferon | Vaccination | Viral diseases | Herpes simplex | Families & family life | Infections | Genomes | Gene deletion | Kinases | Cell surface | α-Interferon | Parents & parenting | Measles | Toll-like receptors | Fibroblasts | Meningitis | Mumps | Stat1 protein | Protein-tyrosine kinase | Age | Stat2 protein | Tyrosine | Encephalitis | Stat3 protein | Patients | Fever | TLR3 protein | Children & youth | 3' Untranslated regions | Lymphocytes B | Herpes viruses | Mutation | Index Medicus | Abridged Index Medicus
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5. Full Text A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency
by Rosain, Jérémie and Oleaga-Quintas, Carmen and Deswarte, Caroline and Verdin, Hannah and Marot, Stéphane and Syridou, Garyfallia and Mansouri, Mahboubeh and Mahdaviani, S Alireza and Venegas-Montoya, Edna and Tsolia, Maria and Mesdaghi, Mehrnaz and Chernyshova, Liudmyla and Stepanovskiy, Yuriy and Parvaneh, Nima and Mansouri, Davood and Pedraza-Sánchez, Sigifredo and Bondarenko, Anastasia and Espinosa-Padilla, Sara E and Yamazaki-Nakashimada, Marco A and Nieto-Patlán, Alejandro and Kerner, Gaspard and Lambert, Nathalie and Jacques, Corinne and Corvilain, Emilie and Migaud, Mélanie and Grandin, Virginie and Herrera, María T and Jabot-Hanin, Fabienne and Boisson-Dupuis, Stéphanie and Picard, Capucine and Nitschke, Patrick and Puel, Anne and Tores, Frederic and Abel, Laurent and Blancas-Galicia, Lizbeth and De Baere, Elfride and Bole-Feysot, Christine and Casanova, Jean-Laurent and Bustamante, Jacinta
Journal of clinical immunology, ISSN 0271-9142, 7/2018, Volume 38, Issue 5, pp. 617 - 627
Medical Microbiology | Mycobacterium | Salmonella | IL-12Rβ1 | Biomedicine | Immunology | Copy number variation | Histoplasma | Alu elements | Infectious Diseases | Internal Medicine | Histoplasmosis | Candidiasis | Copy number | Vaccination | BCG | Interleukin 12 | Interleukin 23 | Genomes | Lymphocytes T | Genetic screening | Lymphocytes B | Etiology | γ-Interferon | Interleukin 1 | Salmonellosis | Mutation | Variation | Index Medicus | mycobacterium | salmonella | copy number variation | histoplasma
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6. Full Text LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency
by Rosain, Jérémie and Deswarte, Caroline and Hancioglu, Gonca and Oleaga-Quintas, Carmen and Kutlug, Seyhan and Kartal, Ibrahim and Kuzu, Isinsu and Toullec, Laurie and Tusseau, Maud and Casanova, Jean-Laurent and Yildiran, Alisan and Bustamante, Jacinta
Journal of clinical immunology, ISSN 0271-9142, 10/2019, Volume 39, Issue 7, pp. 739 - 742
Medical Microbiology | Infectious Diseases | Internal Medicine | Biomedicine | Immunology | Life Sciences & Biomedicine | Science & Technology | Interferon | Index Medicus
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7. Full Text Inherited human IFN-γ deficiency underlies mycobacterial disease
by Kerner, Gaspard and Rosain, Jérémie and Guérin, Antoine and Al-Khabaz, Ahmad and Oleaga-Quintas, Carmen and Rapaport, Franck and Massaad, Michel J and Ding, Jing-Ya and Khan, Taushif and Ali, Fatima Al and Rahman, Mahbuba and Deswarte, Caroline and Martinez-Barricarte, Rubén and Geha, Raif S and Jeanne-Julien, Valentine and Garcia, Diane and Chi, Chih-Yu and Yang, Rui and Roynard, Manon and Fleckenstein, Bernhard and Rozenberg, Flore and Boisson-Dupuis, Stéphanie and Ku, Cheng-Lung and Seeleuthner, Yoann and Béziat, Vivien and Marr, Nico and Abel, Laurent and Al-Herz, Waleed and Casanova, Jean-Laurent and Bustamante, Jacinta
The Journal of clinical investigation, ISSN 0021-9738, 05/2020, Volume 130, Issue 6, pp. 3158 - 3171
Disease | Laboratories | Nonsense mutation | Genes | Virulence | Liver | Infections | Lymphocytes T | Negative selection | Gene deletion | Immunology | Etiology | Lymphocytes | Clonal selection | Natural killer cells | Age | Enzymes | Phenotypes | Lymphatic system | Cytokines | Anemia | BCG | Stop codon | Patients | Fever | Biopsy | γ-Interferon | Mutation | Index Medicus | Abridged Index Medicus
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8. Full Text PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects
by Berland, Aurélie and Rosain, Jérémie and Kaltenbach, Sophie and Allain, Vincent and Mahlaoui, Nizar and Melki, Isabelle and Fievet, Alice and Dubois d'Enghien, Catherine and Ouachée-Chardin, Marie and Perrin, Laurence and Auger, Nathalie and Cipe, Funda Erol and Finocchi, Andrea and Dogu, Figen and Suarez, Felipe and Moshous, Despina and Leblanc, Thierry and Belot, Alexandre and Fieschi, Claire and Boutboul, David and Malphettes, Marion and Galicier, Lionel and Oksenhendler, Eric and Blanche, Stéphane and Fischer, Alain and Revy, Patrick and Stoppa-Lyonnet, Dominique and Picard, Capucine and de Villartay, Jean-Pierre
Journal of allergy and clinical immunology, ISSN 0091-6749, 01/2019, Volume 143, Issue 1, pp. 325 - 334.e2
ataxia telangiectasia | T-cell receptor α repertoire | next-generation sequencing | DNA repair | V(D)J recombination | Primary immunodeficiency | Flow cytometry | Adaptive systems | Severe combined immunodeficiency | Toxicity | Genes | Fluorescence | Stem cell transplantation | Transplantation | Lymphocytes T | Mitochondrial DNA | Hematopoietic stem cells | Defects | T-cell receptor | Next-generation sequencing | Lymphocytes | Peripheral blood | Ataxia | Biocompatibility | Diagnosis | Conditioning | Repair | Deoxyribonucleic acid--DNA | Immune system | Immunoglobulins | Patients | Hemopoiesis | Polymerase chain reaction | Breakage | Stem cells | Biomarkers | Ataxia telangiectasia | Mutation | Acute toxicity | Index Medicus | Abridged Index Medicus | Life Sciences | Human health and pathology | Immunology | Hematology | Biochemistry, Molecular Biology | Genetics | Subcellular Processes | Molecular biology | Cellular Biology | Human genetics | Adaptive immunology
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9. Full Text Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy
by Gruber, Conor and Martin-Fernandez, Marta and Ailal, Fatima and Qiu, Xueer and Taft, Justin and Altman, Jennie and Rosain, Jérémie and Buta, Sofija and Bousfiha, Aziz and Casanova, Jean-Laurent and Bustamante, Jacinta and Bogunovic, Dusan
The Journal of experimental medicine, ISSN 0022-1007, 05/2020, Volume 217, Issue 5
Immunology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Index Medicus
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10. Full Text Clinical and genetic spectrum of a large cohort with total and sub-total complement deficiencies
by El Sissy, Carine and Rosain, Jérémie and Vieira-Martins, Paula and Bordereau, Pauline and Gruber, Aurélia and Devriese, Magali and de Pontual, Loïc and Taha, Muhamed-Kheir and Fieschi, Claire and Picard, Capucine and Frémeaux-Bacchi, Véronique
Frontiers in immunology, ISSN 1664-3224, 2019, Volume 10, pp. 1936 - 1936
Complement | Genetic variants | Auto immune diseases | Deficiency | Meningococcal infections | Life Sciences & Biomedicine | Immunology | Science & Technology | Care and treatment | Autoimmune diseases | Risk factors | Pneumococcal infections | Bacterial infections | Diagnosis | Nucleotide sequencing | Analysis | DNA sequencing | Index Medicus | Life Sciences | Human health and pathology | Microbiology and Parasitology | Infectious diseases | Innate immunity | Bacteriology | genetic variants | auto immune diseases | deficiency | complement | meningococcal infections
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