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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 140, Issue 5, pp. 1388 - 1393.e8
Journal Article
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
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
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1594 - 1603.e9
Background Primary immunodeficiencies are a rare group of inborn diseases characterized by a broad clinical and genetic heterogeneity. Substantial advances in... 
Allergy and Immunology | thymus | T-cell immunodeficiency | mucosal-associated invariant T cell | severe combined immune deficiency | EBV-associated B-cell lymphoproliferation | invariant natural killer T cell | Primary immunodeficiency | HOMEOSTASIS | WISKOTT-ALDRICH-SYNDROME | THYMIC EGRESS | SYNDROME PROTEIN | IMMUNOLOGY | MATURATION | T-LYMPHOCYTE | ALLERGY | KINASE ITK | INKT CELL | GENERATION | MUTATIONS | Immunologic Deficiency Syndromes - pathology | Humans | Infant | Male | Exome | Base Sequence | B-Lymphocytes - virology | Female | Immunologic Deficiency Syndromes - immunology | Child | Gene Order | Microfilament Proteins - genetics | B-Lymphocytes - metabolism | Siblings | Amino Acid Sequence | Microfilament Proteins - chemistry | Gene Expression | Microfilament Proteins - deficiency | Protein Structure, Secondary | Lymphoproliferative Disorders - virology | Herpesvirus 4, Human - immunology | Models, Molecular | Lymphoproliferative Disorders - genetics | Lymphoproliferative Disorders - pathology | Sequence Alignment | Pedigree | Immunologic Deficiency Syndromes - genetics | Consanguinity | Mutation | T cells | Genomics | Risk factors | Immunodeficiency | Antigens | Genealogy | Genes | Families & family life | Kinases | Patients | Streptococcus infections | Proteins | Chemotherapy | Parents & parenting | Lymphocytes | Tetanus | Genetic testing | Potassium | Age | Deoxyribonucleic acid--DNA
Journal Article
EMBO molecular medicine, ISSN 1757-4676, 07/2019, Volume 11, Issue 7, p. e10201
PARN, poly(A)-specific ribonuclease, regulates the turnover of mRNAs and the maturation and stabilization of the hTR RNA component of telomerase. Biallelic... 
shelterin | Chromatin, Epigenetics, Genomics & Functional Genomics | rRNA | PARN | Genetics, Gene Therapy & Genetic Disease | Høyeraal–Hreidarsson syndrome | p53
Journal Article
by Sibiude, Jeanne and Le Chenadec, Jérôme and Bonnet, Damien and Tubiana, Roland and Faye, Albert and Dollfus, Catherine and Mandelbrot, Laurent and Delmas, Sandrine and Lelong, Nathalie and Khoshnood, Babak and Warszawski, Josiane and Blanche, Stéphane and Crenn-Hebert, Catherine and Floch-Tudal, Corinne and Mazy, Fabienne and Joras, Marine and Meier, Françoise and Mortier, Emmanuel and Briquet, Catherine and Duro, Dominique and Ichou, Houria and Marty, Laurence and Ceccaldi, Pierre-François and Banige, Maïa and Uludag, Agnès Villemant and Zarouk, Virginie and Lefort, Agnès and Ben Salah, Mariam and Hittinger, Gilles and Chamouilli, Jean-Marc and Burle, Christian and Lafeuillade, Alain and Philip, Gisèle and Medus, Marie and Bachelard, Germaine and Malet, Martine and Dendale-Nguyen, Joëlle and Guimard, Thomas and Guimard, Karine and Brossier, Jean-Pierre and Perré, Philippe and Esnault, Jean-Luc and Stragier, Olivier Bollengier and Leautez-Nainville, Sophie and Suaud, Isabelle and Martha, Sandrine-Anne and Martha, Benoît and Maurel, Elise and Françoise, Michel and Barat, Muriel and Murger, Patricia and Rouha, Mahfoud and Lumbroso, Philippe and Checoury, Alain and Perfezou, Pascale and Blondin, Gilles and Duthé, Jean-Charles and Ansart, Séverine and Martin, Luc De Saint and Le Moine, Philippe and Daniel, Corinne and Calvez, Christian and Boutaric, Emmanuelle and Rohan, Jennifer and Arvieux, Cédric and Bauville, Estelle and Dupre, Christelle and Lotton, Pascal and Ouamara-Digue, Enora and Poinsignon, Yves and Grelier, Anne and Mousset, Gaetane and Cudeville, Corinne and Mouton-Rioux, Virginie and Niault, Mathilde and Belzic, Isabelle and Moreau, Philippe and Le Coz, Marie-Françoise and Vaillant, Odile Luycx and De Morel, Philippe and Vitrat, Virginie and Tardif, Didier and Gaillat, Jacques and Vanderbergh, Anne and Braig, Suzanne and Clavere, Gaelle and Dehlinger-Paul, Marion and Mohamed, Khaled and Echard, Marie and Camus, Michel and Heller-Roussin, Brigitte and Winter, Cécile and Benveniste, Elyane and Firtion, Ghislaine and Pannier, Emmanuelle and Costa, Myriam and Launay, Odile and Ceron, Dominique Salmon and Belkacem, Touraia and Matheron, Sophie and ... and French Natl Agcy Res AIDS Viral He and French National Agency for Research on AIDS and Viral Hepatitis French Perinatal Cohort/Protease Inhibitor Monotherapy Evaluation Trial
Clinical Infectious Diseases, ISSN 1058-4838, 07/2015, Volume 61, Issue 2, pp. 270 - 280
Background. Antiretroviral (ARV) regimens during pregnancy are highly effective in preventing mother-to-child transmission of human immunodeficiency virus... 
PMTCT | zidovudine | heart function | randomized trial | congenital heart defects | INFECTIOUS DISEASES | INFECTED WOMEN | MOTHER | MICROBIOLOGY | ANTIRETROVIRAL THERAPY | BIRTH-DEFECTS | PREVALENCE | IMMUNOLOGY | CD-1 MICE | PREGNANCY | TRANSMISSION | HIV | CHILDREN BORN | HIV Infections - prevention & control | Heart Septal Defects, Ventricular - epidemiology | Lamivudine - administration & dosage | Pregnancy Complications, Infectious - virology | Follow-Up Studies | Heart Defects, Congenital - etiology | Humans | Infant | Male | Pregnancy Trimester, First | Zidovudine - administration & dosage | Lamivudine - adverse effects | Young Adult | Uterus | Heart Septal Defects, Ventricular - etiology | Heart Septal Defects, Ventricular - diagnosis | Adult | Anti-HIV Agents - therapeutic use | Female | HIV Infections - transmission | France | Echocardiography | Zidovudine - adverse effects | Anti-HIV Agents - adverse effects | Pregnancy | Pregnancy Complications, Infectious - drug therapy | Sex Factors | Heart Defects, Congenital - epidemiology | HIV Infections - drug therapy | Heart Defects, Congenital - diagnosis | Zidovudine - therapeutic use | Infectious Disease Transmission, Vertical - prevention & control | Drug Combinations | Prevention | Usage | Maternal health services | Disease transmission | Clinical trials | Dosage and administration | Management | Drug therapy | HIV infection | Zidovudine | Risk factors
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2012, Volume 7, Issue 2, p. e31695
Journal Article