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Immunology and Cell Biology, ISSN 0818-9641, 04/2019, Volume 97, Issue 4, pp. 360 - 367
Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN‐γ immunity. Since 1996, disease‐causing mutations have been found in... 
primary immunodeficiency | mycobacterium | IFN‐γ | next‐generation sequencing | IFN-γ | next-generation sequencing | RECEPTOR 1 DEFICIENCY | IMMUNOLOGY | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | INBORN-ERRORS | CELL BIOLOGY | IFN-gamma | GAIN-OF-FUNCTION | INTERFERON-GAMMA | B-CELL | MUTATION | PATIENT | INFECTION | INTRAMEMBRANE PROTEASE SPPL2A
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 7/2018, Volume 38, Issue 5, pp. 617 - 627
Journal Article
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 01/2019, Volume 143, Issue 1, pp. 325 - 334.e2
Journal Article
FRONTIERS IN IMMUNOLOGY, ISSN 1664-3224, 08/2019, Volume 10, p. 1936
The complement system is crucial for defense against pathogens and the removal of dying cells or immune complexes. Thus, clinical indications for possible... 
C2 DEFICIENCY | auto immune diseases | FACTOR-I | PREVALENCE | IMMUNOLOGY | PROPERDIN DEFICIENCY | INVASIVE MENINGOCOCCAL DISEASE | genetic variants | WESTERN CAPE | deficiency | PATHWAY | C6 DEFICIENCY | MUTATIONS | complement | meningococcal infections | MOLECULAR-BASIS | Care and treatment | Autoimmune diseases | Risk factors | Pneumococcal infections
Journal Article
Annals of Allergy, Asthma & Immunology, ISSN 1081-1206, 12/2018, Volume 121, Issue 6, pp. 739 - 740.e1
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2018, Volume 13, Issue 10, p. e0205826
Journal Article
Blood, ISSN 0006-4971, 01/2015, Volume 125, Issue 5, pp. 775 - 783
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
BLOOD, ISSN 0006-4971, 07/2019, Volume 134, Issue 1, pp. 9 - 21
Evans syndrome (ES) is a rare severe autoimmune disorder characterized by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. In most... 
HEMOLYTIC-ANEMIA | DISEASE | DYSREGULATION | STAT3 | LYMPHOPROLIFERATIVE SYNDROME | CELL-FUNCTION | MUTATIONS | HEMATOLOGY | T-CELLS | ONSET | SELF-TOLERANCE
Journal Article