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by Mahlaoui, Nizar and Picard, Capucine and Bach, Perrine and Costes, Laurence and Courteille, Virginie and Ranohavimparany, Anja and Alcaïs, Alexandre and Jais, Jean-Philippe and Fischer, Alain and Bellanné-Chantelot, Christine and Bustamante, Jacinta and Chollet-Martin, Sylvie and Drouet, Christian and Fremeaux-Bacchi, Véronique and Kannengiesser, Caroline and Girardin, Virginie and Lambert, Nathalie and Proulle, Valérie and Rosain, Jérémie and Stasia, Marie José and Lyonnet, Dominique Stoppa and Theodorou, Ioannis and Abou-Chahla, Wadih and Adoue, Daniel and Aladjidi, Nathalie and Amoura, Zahir and Armari-Alla, Corinne and Bader-Meunier, Brigitte and Barlogis, Vincent and Bayart, Sophie and Bertrand, Yves and Blanche, Stéphane and Bodet, Damien and Bonnotte, Bernard and Borie, Raphaël and Boutard, Patrick and Briandet, Claire and Brion, Jean-Paul and Brouard, Jacques and Carausu, Liana and Catherinot, Emilie and Cheikh, Nathalie and Cohen-Beaussant, Sarah and Couderc, Louis-Jean and Cougoul, Pierre and Couillault, Gérard and de Saint Basile, Geneviève and Devoldere, Catherine and Deville, Anne and Dore, Eric and Dulieu, Fabienne and Durieu, Isabelle and Werle, Natacha Entz and Fieschi, Claire and Fouyssac, Fanny and Frange, Pierre and Gajdos, Vincent and Galicier, Lionel and Gandemer, Virginie and Gardembas, Martine and Gaud, Catherine and Grosbois, Bernard and Guffroy, Aurélien and Guitton, Corinne and Guillerm, Gaelle and Hachulla, Eric and Hamidou, Mohamed and Haro, Sophie and Hatchuel, Yves and Hermine, Olivier and Hoarau, Cyrille and Hoen, Bruno and Hot, Arnaud and Humbert, Sébastien and Jaccard, Arnaud and Jacquot, Serge and Jaussaud, Rolland and Jeandel, Pierre-Yves and Jeziorski, Eric and Kebaili, Kamila and Korganow, Anne-Sophie and Lambotte, Olivier and Lanternier, Fanny and Larroche, Claire and Le Quellec, Alain and Le Moigne, Emmanuelle and Le Moing, Vincent and Launay, David and Lebranchu, Yvon and Lecuit, Marc and Lefevre, Guillaume and Lemal, Richard and Li-Thiao-Te, Valérie and Lortholary, Olivier and Malphettes, Marion and Marie-Cardine, Aude and Silva, Nicolas Martin and Masseau, Agathe and Massot, Christian and Mazingue, Françoise and ... and CEREDIH French PID Study Grp and CEREDIH French PID study group
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 04/2019, Volume 143, Issue 4, pp. 1646 - 1649.e10
[...]the (genetic) diagnostic delay was long for many patients (see below). [...]we looked at whether the patients' region of residence within France (which... 
ALLERGY | IMMUNOLOGY | INBORN-ERRORS | Multiple births | Immunoglobulins | Disease | Genomics | Overseas | Identification | Genomes | Medical screening | Embryos | Patients | Genetic screening | Gene sequencing | Next-generation sequencing | Genetic counseling | Immunology | Diagnostic systems | Mutation | Diagnosis | Life Sciences | Biomolecules | Biochemistry, Molecular Biology
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 116 - 126.e11
Background Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation.... 
Allergy and Immunology | patient self-reported outcomes | treatment | Common variable immunodeficiency | primary antibody deficiency | autoimmunity | enteropathy | immunoglobulin replacement | quality of life | lymphadenopathy | granulomas | INFECTIONS | PHENOTYPES | IMMUNOLOGY | DEFICIENCY | IGM | TRIAL | B-CELL | ALLERGY | HYPOGAMMAGLOBULINEMIA | INTRAVENOUS IMMUNOGLOBULIN | DISEASE | Autoimmunity | Common Variable Immunodeficiency - immunology | Common Variable Immunodeficiency - drug therapy | Humans | Child, Preschool | Lymphoproliferative Disorders - complications | Male | Lymphoproliferative Disorders - immunology | Splenomegaly - pathology | Bronchiectasis - pathology | Common Variable Immunodeficiency - mortality | Pneumonia - mortality | Pneumonia - immunology | Adult | Female | Retrospective Studies | Child | Europe | Delayed Diagnosis | Common Variable Immunodeficiency - complications | Lymphoproliferative Disorders - mortality | Pneumonia - drug therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Age of Onset | Survival Analysis | Pneumonia - complications | Lymphoproliferative Disorders - drug therapy | Immunological deficiency syndromes | Care and treatment | Health aspects | Respiratory tract diseases | Studies | Pneumonia | Meningitis | Lymphomas | Multivariate analysis | Patients | Age | Data bases
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 140, Issue 5, pp. 1388 - 1393.e8
Journal Article
by Coignard-Biehler, Hélène and Mahlaoui, Nizar and Pilmis, Benoit and Barlogis, Vincent and Brosselin, Pauline and De Vergnes, Nathalie and Debré, Marianne and Malphettes, Marion and Frange, Pierre and Catherinot, Emilie and Pellier, Isabelle and Durieu, Isabelle and Perlat, Antoinette and Royer, Bruno and Le Quellec, Alain and Jeziorski, Eric and Fischer, Alain and Lortholary, Olivier and Aaron+, Laurent and Adoue, Daniel and Aguilar, Claire and Aladjidi, Nathalie and Alcais, Alexandre and Amoura, Zahir and Arlet, Philippe and Armari-Alla, Corinne and Bader-Meunier, Brigitte and Bayart, Sophie and Bertrand, Yves and Bienvenu, Boris and Blanche, Stéphane and Bodet, Damien and Bonnotte, Bernard and Borie, Raphaël and Boutard, Patrick and Briandet, Claire and Brion, Jean-Paul and Brouard, Jacques and Cohen-Beaussant, Sarah and Costes, Laurence and Couderc, Louis-Jean and Cougoul, Pierre and Courteille, Virginie and de Saint Basile, Geneviève and Devoldere, Catherine and Deville, Anne and Donadieu, Jean and Dore, Eric and Dulieu, Fabienne and Edan, Christine and Entz-Werle, Natacha and Fieschi, Claire and Forestier, Amandine and Fouyssac, Fanny and Gajdos, Vincent and Galicier, Lionel and Gandemer, Virginie and Gardembas, Martine and Gaud, Catherine and Guillerm, Gaelle and Hachulla, Eric and Hamidou, Mohamed and Hermine, Olivier and Hoarau, Cyrille and Humbert, Sébastien and Jaccard, Arnaud and Jacquot, Serge and Jais, Jean-Philippe and Jaussaud, Roland and Jeandel, Pierre-Yves and Kebaili, Kamila and Korganow, Anne-Sophie and Lambotte, Olivier and Lanternier, Fanny and Larroche, Claire and Lascaux, Anne-Sophie and Le Moigne, Emmanuelle and Le Moing, Vincent and Lebranchu, Yvon and Lecuit, Marc and Lefevre, Guillaume and Lemal, Richard and Te, Valérie Li Thiao and Marie-Cardine, Aude and Silva, Nicolas Martin and Masseau, Agathe and Massot, Christian and Mazingue, Françoise and Merlin, Etienne and Michel, Gérard and Millot, Frédéric and Monlibert, Béatrice and Monpoux, Fabrice and Moshous, Despina and Mouthon, Luc and Munzer, Martine and Neven, Bénédicte and Nove-Josserand, Raphaëlle and Oksenhendler, Eric and Ouachée-Chardin, Marie and ... and CEREDIH French PID study group and the CEREDIH French PID study group
Journal of Clinical Immunology, ISSN 0271-9142, 10/2019, Volume 39, Issue 7, pp. 702 - 712
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 07/2017, Volume 76, Issue 7, pp. 1191 - 1198
ObjectivesInflammasomes are multiprotein complexes that sense pathogens and trigger biological mechanisms to control infection. Nucleotide-binding... 
Arthritis | Inflammation | Fever Syndromes | Juvenile Idiopathic Arthritis | CELLS | SYSTEMIC-LUPUS-ERYTHEMATOSUS | DISEASES | SUBPOPULATIONS | FAMILIAL MEDITERRANEAN FEVER | JUVENILE IDIOPATHIC ARTHRITIS | MECHANISMS | INFLAMMASOMES | RHEUMATOLOGY | PYRIN | BLOOD | Interleukin-18 - immunology | Skin Diseases - genetics | Humans | Male | Precursor Cells, B-Lymphoid - immunology | Caspase 1 - immunology | Autoimmune Diseases - genetics | Netherlands | Apoptosis Regulatory Proteins - genetics | Female | Algeria | Child | Autoimmune Diseases - complications | Autoimmune Diseases - immunology | Hereditary Autoinflammatory Diseases - immunology | European Continental Ancestry Group | Skin Diseases - immunology | Arthritis, Juvenile - genetics | Syndrome | Hereditary Autoinflammatory Diseases - complications | Homozygote | Skin Diseases - complications | B-Lymphocytes - immunology | Arthritis, Juvenile - immunology | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Arthritis, Juvenile - complications | Consanguinity | Mutation | African Continental Ancestry Group | Hereditary Autoinflammatory Diseases - genetics | Research | Gene mutations | Autoimmune diseases | NLRP proteins | Dyskeratosis | Pathogens | Cytokines | Transcription | Caspase | Patients | Inflammatory diseases | Caspase-1 | Interleukin 18 | Proteins | Vitiligo | Pyrin protein | Lymphocytes B | Rheumatoid arthritis | Gene mapping | Age | Immune system | Life Sciences | Human health and pathology | Rhumatology and musculoskeletal system
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1752 - 1755
Journal Article
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2019, Volume 179, Issue 11, pp. 2207 - 2213
In this study, we describe the biological immune profiles and clinical dysimmune manifestations (infections, autoimmune diseases, and allergies) of patients... 
infections | 22q11 deletion syndrome | lymphocytes | dysimmunity | autoimmunity | Clonal deletion | CD8 antigen | Hypersensitivity | Infections | Lymphocytes T | Children | Autoimmune diseases | Patients | Risk factors | CD4 antigen | Life Sciences
Journal Article