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by Conti, Francesca, MD, PhD and Lugo-Reyes, Saul Oswaldo, MD and Blancas Galicia, Lizbeth, MD and He, Jianxin, MD and Aksu, Güzide, MD and Borges de Oliveira, Edgar, PhD and Deswarte, Caroline, MSc and Hubeau, Marjorie, PhD and Karaca, Neslihan, MD and de Suremain, Maylis, AS and Guérin, Antoine, MSc and Baba, Laila Ait, PhD and Prando, Carolina, MD, PhD and Guerrero, Gloria G., PhD and Emiroglu, Melike, MD and Öz, Fatma Nur, MD and Yamazaki Nakashimada, Marco Antonio, MD and Gonzalez Serrano, Edith, MD and Espinosa, Sara, MD, PhD and Barlan, Isil, MD and Pérez, Nestor, MD, PhD and Regairaz, Lorena, MD and Guidos Morales, Héctor Eduardo, MD and Bezrodnik, Liliana, MD and Di Giovanni, Daniela, MD and Dbaibo, Ghassan, MD and Ailal, Fatima, MD and Galicchio, Miguel, MD and Oleastro, Matias, MD and Chemli, Jalel, MD and Danielian, Silvia, PhD and Perez, Laura, BSc and Ortega, Maria Claudia, MD and Soto Lavin, Susana, MD, PhD and Hertecant, Joseph, MD and Anal, Ozden, MD and Kechout, Nadia, MD and Al-Idrissi, Eman, MD and ElGhazali, Gehad, MD, PhD and Bondarenko, Anastasia, MD and Chernyshova, Liudmyla, MD and Ciznar, Peter, MD and Herbigneaux, Rose-Marie, MD and Diabate, Aminata, AS and Ndaga, Stéphanie, AS and Konte, Barik, AS and Czarna, Ambre, AS and Migaud, Mélanie, AS and Pedraza-Sánchez, Sigifredo, PhD and Zaidi, Mussaret Bano, MD, Msc and Vogt, Guillaume, PhD and Blanche, Stéphane, MD and Benmustapha, Imen, MD and Mansouri, Davood, MD and Abel, Laurent, MD, PhD and Boisson-Dupuis, Stéphanie, PhD and Mahlaoui, Nizar, MD, MSc, MPH and Bousfiha, Ahmed Aziz, MD and Picard, Capucine, MD, PhD and Barbouche, Ridha, MD, PhD and Al-Muhsen, Saleh, MD and Espinosa-Rosales, Francisco J., MD and Kütükçüler, Necil, MD and Condino-Neto, Antonio, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Bustamante, Jacinta, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 1, pp. 241 - 248.e3
Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by inborn errors of the phagocyte nicotinamide adenine dinucleotide... 
Allergy and Immunology | primary immunodeficiency | Mycobacteria | chronic granulomatous disease | BCG | tuberculosis | SUSCEPTIBILITY | VACCINATION | 1ST REPORT | CLINICAL-FEATURES | KINDREDS | IMMUNOLOGY | DEFICIENCY | ALLERGY | INFECTION | 2 CHILDREN | MUTATIONS | Granulomatous Disease, Chronic - mortality | Mycoses - epidemiology | Mycobacterium Infections - diagnosis | Bacterial Infections - etiology | Humans | Tuberculosis - etiology | Child, Preschool | Infant | Male | Granulomatous Disease, Chronic - complications | Tuberculosis - diagnosis | Granulomatous Disease, Chronic - epidemiology | Female | Retrospective Studies | Child | Mycobacterium Infections - epidemiology | Mycobacterium Infections - etiology | Mycobacterium Infections - mortality | Granulomatous Disease, Chronic - therapy | Patient Outcome Assessment | Bacterial Infections - epidemiology | Mycoses - diagnosis | Bacterial Infections - diagnosis | Mycoses - mortality | Mycoses - etiology | BCG Vaccine - administration & dosage | Bacterial Infections - mortality | Care and treatment | Chronic granulomatous disease | Bacterial infections | Analysis | Cytochrome | Pathogens | Immunization | Tuberculosis | Infectious diseases | Laboratories | Infections | Mutation | Patients | Mycoses | Mycobacterium Infections | Life Sciences | Granulomatous Disease, Chronic | BCG Vaccine | Bacterial Infections
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 140, Issue 1, pp. 232 - 241
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 1/2018, Volume 38, Issue 1, pp. 129 - 143
Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has... 
Medical Microbiology | Biomedicine | Immunology | Primary immunodeficiencies | IUIS | Classification | Infectious Diseases | Internal Medicine | Inborn errors of immunity | Phenotypic | DISEASES | IMMUNOLOGY | Immunodeficiency | Hypersensitivity | Malignancy | Original
Journal Article
Nature Immunology, ISSN 1529-2908, 09/2018, Volume 19, Issue 9, pp. 973 - 985
Human inborn errors of IFN-gamma immunity underlie mycobacterial diseases. We describe patients with Mycobacterium bovis (BCG) disease who are homozygous for... 
IFN-GAMMA IMMUNITY | REGULATED INTRAMEMBRANE PROTEOLYSIS | TUMOR-NECROSIS-FACTOR | B-CELL | MYCOBACTERIAL DISEASE | INTERFERON-GAMMA | PROTEASE SPPL2A | INVARIANT CHAIN | TNF-ALPHA | IMMUNOLOGY | SIGNAL-PEPTIDE-PEPTIDASE | Dendritic Cells - immunology | Humans | Vaccination | Infant | Male | Aspartic Acid Endopeptidases - genetics | Interferon-gamma - metabolism | Th1 Cells - immunology | Immunity | Mycobacterium Infections - immunology | Mycobacterium Infections - genetics | Mycobacterium tuberculosis - physiology | Histocompatibility Antigens Class II - metabolism | Membrane Proteins - metabolism | Membrane Proteins - genetics | Mice, Inbred C57BL | Cells, Cultured | HLA Antigens - metabolism | Mutation - genetics | Mice, Knockout | Tuberculosis - immunology | Lymphadenopathy | Animals | Aspartic Acid Endopeptidases - metabolism | Immunologic Memory | Mice | Mycobacterium bovis - physiology | Antigens, Differentiation, B-Lymphocyte - metabolism | Research | Dendritic cells | T cells | Signal peptides | Antigens | Lymphoid cells | Immunological memory | BCG | Interleukin 12 | Interleukin 23 | Lymphocytes T | Infections | Invariant chain | Patients | CD1c antigen | CD4 antigen | Tuberculosis | Antigen-presenting cells | Lymphocytes | γ-Interferon | Histocompatibility antigen HLA | Disruption | Mutation | Index Medicus
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 2015, Volume 212, Issue 10, pp. 1641 - 1662
Journal Article
Immunological Reviews, ISSN 0105-2896, 03/2015, Volume 264, Issue 1, pp. 103 - 120
Journal Article