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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 | chronic granulomatous disease | Mycobacteria | 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
IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY, ISSN 1735-1502, 08/2019, Volume 18, Issue 4, pp. 447 - 451
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective phagocytic NADPH oxidase, causing a complete lack or significant decrease... 
Autoimmunity | X-inactivation | Discoid lupus | DE-NOVO MUTATION | ALLERGY | X-linked chronic granulomatous disease carrier | Skewed lyonization | IMMUNOLOGY | X-linked chronic granulomatous disease | WOMAN | ONSET
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 08/2011, Volume 208, Issue 18, pp. 1635 - 1648
Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency.... 
HYPER-IGE SYNDROME | MEDICINE, RESEARCH & EXPERIMENTAL | SEQUENCING-BASED DISCOVERY | IFN-GAMMA | DISEASE | TH17-ASSOCIATED CYTOKINES | IL-27 | CD4(+) T-CELLS | IMMUNOLOGY | DEFICIENCY | TH17 CELLS | INBORN-ERRORS
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 10/2013, Volume 34, Issue 10, pp. 1329 - 1339
IL-12R1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly... 
MYCOBACTERIAL DISEASE | RECEPTOR BETA-1 DEFICIENCY | SUSCEPTIBILITY | INTERLEUKIN-12 | Mendelian susceptibility to mycobacterial disease | IL-12 RECEPTOR | POLYMORPHISMS | PATHWAY GENES | IL-12R1 deficiency | GENETICS & HEREDITY | PULMONARY TUBERCULOSIS | IL12RB1 | T-CELLS | GENOME-WIDE ASSOCIATION
Journal Article
Immunologic Research, ISSN 0257-277X, 3/2015, Volume 61, Issue 3, pp. 260 - 268
Journal Article
Blood, ISSN 0006-4971, 10/2013, Volume 122, Issue 14, pp. 2390 - 2401
Journal Article
The Journal of experimental medicine, 08/2011, Volume 208, Issue 8, p. 1635
Journal Article
Blood, ISSN 0006-4971, 2016, Volume 127, Issue 25, pp. 3154 - 3164
Journal Article
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