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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
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, 2015, Volume 135, Issue 6, pp. 1578 - 1588.e5
Background PRKDC encodes for DNA-dependent protein kinase catalytic subunit (DNA-PKcs), a kinase that forms part of a complex (DNA-dependent protein kinase... 
Allergy and Immunology | autoimmunity | PRKDC | DNA-dependent protein kinase catalytic subunit | Autoimmune regulator | VDJ recombination | severe combined immunodeficiency | tolerance | recombination-activating gene | AUTOANTIBODIES | DEFECTS | HYPEREOSINOPHILIA OMENNS SYNDROME | IMMUNOLOGY | DEFICIENCY | RESPONSES | THYMUS | CALCIUM-SENSING RECEPTOR | ALLERGY | DISEASE | T-CELLS | Th1 Cells - pathology | Immunologic Deficiency Syndromes - pathology | Granuloma - metabolism | Humans | Autoimmunity - genetics | Male | Th2 Cells - immunology | Autoantibodies - biosynthesis | Th1 Cells - immunology | Th1 Cells - metabolism | Young Adult | DNA End-Joining Repair - immunology | DNA-Activated Protein Kinase - genetics | Nuclear Proteins - deficiency | Female | V(D)J Recombination - immunology | B-Lymphocytes - pathology | Immunologic Deficiency Syndromes - immunology | Nuclear Proteins - genetics | Transcription Factors - immunology | DNA-Activated Protein Kinase - deficiency | B-Lymphocytes - metabolism | Th2 Cells - pathology | Skin Neoplasms - pathology | Granuloma - genetics | Skin Neoplasms - immunology | Gene Expression Regulation | Immune Tolerance | Transcription Factors - genetics | Nuclear Proteins - immunology | Th2 Cells - metabolism | Skin Neoplasms - metabolism | Granuloma - pathology | Animals | B-Lymphocytes - immunology | Skin Neoplasms - genetics | Adolescent | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Granuloma - immunology | Mice | Mutation | DNA-Activated Protein Kinase - immunology | Autoimmunity | Genetic research | Genetic aspects | T cells | Immunodeficiency | T cell receptors | Kinases | Genes | Immune system | Life Sciences | Microbiology and Parasitology | Immunology | Bacteriology | Virology
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
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 71 - 71
Journal Article
Haematologica, ISSN 0390-6078, 05/2011, Volume 96, Issue 5, pp. 655 - 663
Journal Article
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America, ISSN 1058-4838, 03/2017, Volume 64, Issue 6, pp. 767 - 775
Journal Article
Haematologica, ISSN 0390-6078, 09/2012, Volume 97, Issue 9, pp. 1312 - 1319
Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 08/2019, Volume 10, p. 1871
Background: We report here two new familial cases of associated del15q11 and del7p22, with the latter underlining the clinical variability of this deletion.... 
7p22 | vasculitis | LYMPHOCYTE | CARMA1 | CGH array | 11 CARD11 | hypogammaglobulinemia | dysimmunity | IMMUNOLOGY | Genetic aspects | Immunodeficiency
Journal Article