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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 137, Issue 6, pp. 1780 - 1787
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 01/2019, Volume 116, Issue 3, pp. 970 - 975
Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is a critical regulator of cell death and inflammation, but its relevance for human disease... 
Rare diseases | Inflammatory bowel diseases | Primary immunodeficiency | rare diseases | APOPTOSIS | HOMEOSTASIS | NECROPTOSIS | inflammatory bowel diseases | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME | MULTIDISCIPLINARY SCIENCES | KINASE | primary immunodeficiency | DEATH | MUTATIONS | Humans | Inflammatory Bowel Diseases - immunology | NF-kappa B - immunology | Male | Cell Differentiation - genetics | Intestinal Mucosa - immunology | Inflammatory Bowel Diseases - pathology | HEK293 Cells | Inflammatory Bowel Diseases - genetics | Female | B-Lymphocytes - pathology | Severe Combined Immunodeficiency - pathology | T-Lymphocytes - pathology | Receptor-Interacting Protein Serine-Threonine Kinases - immunology | Immunity, Mucosal - genetics | HCT116 Cells | Epithelial Cells - pathology | Severe Combined Immunodeficiency - immunology | Cell Differentiation - immunology | Severe Combined Immunodeficiency - genetics | B-Lymphocytes - immunology | NF-kappa B - genetics | Epithelial Cells - immunology | T-Lymphocytes - immunology | Receptor-Interacting Protein Serine-Threonine Kinases - deficiency | Mutation | Intestinal Mucosa - pathology | Deficiency diseases | Complications and side effects | Threonine | Immunodeficiency | Causes of | Physiological aspects | Genetic aspects | Protein kinases | Tumor necrosis factor receptors | Enzymes | NF-κB protein | Pathogenesis | Epithelial cells | Homeostasis | Kinases | Patients | Inflammatory bowel disease | Proteins | Lymphocytes B | Intestine | Cell death | Protein kinase | Immune system | Biological Sciences
Journal Article
Saudi Medical Journal, ISSN 0379-5284, 05/2016, Volume 37, Issue 5, pp. 567 - 569
Journal Article
Medicine (United States), ISSN 0025-7974, 03/2013, Volume 92, Issue 2, pp. 109 - 122
Journal Article
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