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Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases

Francesca Conti 1, 2, 3 Saul Oswaldo Lugo-Reyes 1, 4, 3 Lizbeth Blancas Galicia 1, 4, 3 Jianxin He 5 Guzide Aksu 6 de Oliveira Jr. Edgar Borges 7, 1, 3 Caroline Deswarte 1, 3 Marjorie Hubeau 1, 3 Neslihan Karaca 6 Maylis de Suremain 1, 3 Antoine Guerin 1, 3 Laila Ait Baba 8 Carolina Prando 9 Gloria G. Guerrero 1, 3 Melike Emiroglu 10 Fatma Nur Oz 11 Marco Antonio Yamazaki Nakashimada 12 Edith Gonzalez Serrano 12 Sara Espinosa 12 Isil Barlan 13 Nestor Perez 14 Lorena Regairaz 14 Hector Eduardo Guidos Morales 15 Liliana Bezrodnik 16 Daniela Di Giovanni 16 Ghassan Dbaibo 17 Fatima Ailal 18 Miguel Galicchio 19 Matias Oleastro 20 Jalel Chemli 21 Silvia Danielian 20 Laura Perez 20 Maria Claudia Ortega 22 Susana Soto Lavin 23 Joseph Hertecant 24 Ozden Anal 25 Nadia Kechout 26 Eman Al Idrissi 27 Gehad Elghazali 27 Anastasia Bondarenko 28 Liudmyla Chernyshova 28 Peter Ciznar 29 Rose-Marie Herbigneaux 30 Aminata Diabate 31 Stéphanie Ndaga 31 Barik Konte 31 Ambre Czarna 31 Melanie Migaud 1, 3 Sigifredo Pedraza-Sanchez 32 Mussaret Bano Zaidi 33 Guillaume Vogt 1, 3 Stephane Blanche 34 Imen Benmustapha 35 Davood Mansouri 36 Laurent Abel 37, 1, 3 Stephanie Boisson-Dupuis 1, 37, 3 Nizar Mahlaoui 1, 38 Ahmed Aziz Bousfiha 18 Capucine Picard 1, 37, 3 Mohamed-Ridha Barbouche 35 Saleh Al-Muhsen 39 Francisco J. Espinosa-Rosales 9 Necil Kutukculer 6 Antonio Condino-Neto 7 Jean Laurent Casanova 1, 3 Jacinta Bustamante 1, 3, 40, *
* Corresponding author
1 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
2 Department of Public Health and Cellular Biology [Rome]
3 Inserm U980 - Génétique Humaine des Maladies Infectieuses
4 Immunodeficiencies Research Unit [Mexico city]
5 Beijing Childrens Hospital
6 Department of Pediatrics [Izmir]
7 Institute of Biomedical Sciences - Department of Immunology [Sao Paulo]
8 Laboratory of Biology and Health UARC34–Metabolic and Immunologic Pathology Research Team
9 Bioinformatics Laboratory [Curitiba]
10 Department of Pediatric Infectious Diseases [Konya]
11 Pediatric Infectious Diseases Department [Ankara]
12 Department of Immunology [Mexico City]
13 Marmara University [Kadıköy - İstanbul]
14 Childrens Hosp Super Sor Maria Ludovica
15 Allergy and Immunology Unit [San Salvador]
16 Immunology Unit [Buenos Aires]
17 Department of Pediatrics [Beirut]
18 Clinical Immunology Unit, Casablanca Children's Hospital
19 Childrens Hosp Victor J Vilela Rosario
20 Department of Immunology [Buenos Aires]
21 Department of Pediatrics [Sousse]
22 Childrens Hosp San Jose Colombia
23 Concepcion Regional Hospital [Concepción]
24 Department of Pediatrics [Abu Dhabi]
25 Department of Pediatrics [Izmir]
26 Institut Pasteur d'Algérie
27 Department of Pediatrics [Riyadh]
28 Department of Pediatrics Infectious Diseases and Clinical Immunology [Kiev]
29 Department of Pediatrics, Comenius University Medical School [Bratislava]
30 CHU La Réunion - Centre Hospitalier Universitaire de La Réunion
31 CHU Necker - Enfants Malades [AP-HP]
32 Unit of Biochemistry [Tlalpan]
33 Microbiology Research Laboratory, Hospital General O'Horan and Infectious Diseases Research Unit [Merida]
34 Service d'immuno-hématologie pédiatrique [CHU Necker]
35 Institut Pasteur de Tunis
36 SBUMS - Shahid Beheshti University of Medical Sciences [Tehran]
37 St. Giles Laboratory of Human Genetics of Infectious Diseases
38 French Reference Center for Primary Immune Deficiencies (CEREDIH)
39 Department of Pediatrics, Prince Naif Center for Immunology Research, College of Medicine
40 Rockefeller University [New York]
Abstract : Background : Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by inborn errors of the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex. From the first year of life onward, most affected patients display multiple, severe, and recurrent infections caused by bacteria and fungi. Mycobacterial infections have also been reported in some patients. Objective : Our objective was to assess the effect of mycobacterial disease in patients with CGD. Methods : We analyzed retrospectively the clinical features of mycobacterial disease in 71 patients with CGD. Tuberculosis and BCG disease were diagnosed on the basis of microbiological, pathological, and/or clinical criteria. Results : Thirty-one (44%) patients had tuberculosis, and 53 (75%) presented with adverse effects of BCG vaccination; 13 (18%) had both tuberculosis and BCG infections. None of these patients displayed clinical disease caused by environmental mycobacteria, Mycobacterium leprae, or Mycobacterium ulcerans. Most patients (76%) also had other pyogenic and fungal infections, but 24% presented solely with mycobacterial disease. Most patients presented a single localized episode of mycobacterial disease (37%), but recurrence (18%), disseminated disease (27%), and even death (18%) were also observed. One common feature in these patients was an early age at presentation for BCG disease. Mycobacterial disease was the first clinical manifestation of CGD in 60% of these patients. Conclusion : Mycobacterial disease is relatively common in patients with CGD living in countries in which tuberculosis is endemic, BCG vaccine is mandatory, or both. Adverse reactions to BCG and severe forms of tuberculosis should lead to a suspicion of CGD. BCG vaccine is contraindicated in patients with CGD.
Keywords : BCG Mycobacteria chronic granulomatous disease primary immunodeficiency tuberculosis
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Submitted on : Monday, February 13, 2017 - 12:54:40 PM
Last modification on : Tuesday, December 7, 2021 - 6:06:02 PM

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Francesca Conti, Saul Oswaldo Lugo-Reyes, Lizbeth Blancas Galicia, Jianxin He, Guzide Aksu, et al.. Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases. Journal of Allergy and Clinical Immunology, Elsevier, 2016, 138 (1), pp.241 - 248.e3. ⟨10.1016/j.jaci.2015.11.041⟩. ⟨pasteur-01466079⟩

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