1. Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases
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Capucine Picard, Anastasia Bondarenko, Marjorie Hubeau, Lorena Regairaz, Caroline Deswarte, Imen Ben-Mustapha, Antoine Guérin, Joseph Hertecant, Guillaume Vogt, Rose-Marie Herbigneaux, Fatima Ailal, Davood Mansouri, Guzide Aksu, Antonio Condino-Neto, Laurent Abel, Carolina Prando, Ambre Czarna, Lizbeth Blancas Galicia, Saul Oswaldo Lugo-Reyes, Isil Barlan, Mussaret B. Zaidi, Liliana Bezrodnik, Daniela Di Giovanni, Laura Perez, Laila Ait Baba, Sigifredo Pedraza-Sánchez, Miguel Galicchio, Gehad ElGhazali, Aminata Diabate, Sara Espinosa, Matías Oleastro, Francesca Conti, Necil Kutukculer, Edgar Oliveira, Héctor Eduardo Guidos Morales, Edith Gonzalez Serrano, Fatma Nur Öz, Ahmed Aziz Bousfiha, Jalel Chemli, Özden Anal, Peter Ciznar, Nizar Mahlaoui, Francisco J. Espinosa-Rosales, Silvia Danielian, Gloria G. Guerrero, Saleh Al-Muhsen, Marco Antonio Yamazaki Nakashimada, Nadia Kechout, Ridha Barbouche, Maria Claudia Ortega, Susana Soto Lavin, Liudmyla Chernyshova, Ghassan Dbaibo, Melike Emiroglu, Stéphane Blanche, Jacinta Bustamante, Mélanie Migaud, Jean-Laurent Casanova, Maylis de Suremain, Barik Konte, Neslihan Edeer Karaca, Jianxin He, Stéphanie Ndaga, Nestor Proenza Pérez, Stéphanie Boisson-Dupuis, Eman Al-Idrissi, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Public Health and Cellular Biology [Rome], Università degli Studi di Roma Tor Vergata [Roma], Génétique Humaine des Maladies Infectieuses (Inserm U980), Immunodeficiencies Research Unit [Mexico city], National Institute of Pediatrics, Mexico, Beijing Childrens Hospital, Department of Pediatrics [Izmir], Ege University, Institute of Biomedical Sciences - Department of Immunology [Sao Paulo], University of São Paulo (USP), Laboratory of Biology and Health UARC34–Metabolic and Immunologic Pathology Research Team, Faculté des Sciences Ben M'sik [Casablanca], Université Hassan II [Casablanca] (UH2MC)-Université Hassan II [Casablanca] (UH2MC), Bioinformatics Laboratory [Curitiba], Pelé Pequeno Principe Research Institute, Curitiba, Department of Pediatric Infectious Diseases [Konya], Necmettin Erbakan University, Meram Medical Faculty, Pediatric Infectious Diseases Department [Ankara], Dr Sami Ulus Matern & Childrens Res & Training Ho, Department of Immunology [Mexico City], Natl Inst Pediat, Immunodeficiencies Res Unit, Mexico City, DF, Mexico, Marmara University [Kadıköy - İstanbul], Childrens Hosp Super Sor Maria Ludovica, Allergy and Immunology Unit [San Salvador], Natl Childrens Hosp Benjamin Bloom San Salvador, Immunology Unit [Buenos Aires], Childrens Hosp Ricardo Gutierrez Buenos Aires, Department of Pediatrics [Beirut], American University of Beirut [Beyrouth] (AUB), Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Hospital King Hassan II University-Aïn Chok, Childrens Hosp Victor J Vilela Rosario, Department of Immunology [Buenos Aires], 'Juan Pedro Garrahan' National Hospital of Pediatrics, Buenos Aires, Department of Pediatrics [Sousse], Sahloul Hospital, Childrens Hosp San Jose Colombia, Concepcion Regional Hospital [Concepción], Department of Pediatrics [Abu Dhabi], Tawam Hospital, Al Ain, Dokuz Eylül Üniversitesi = Dokuz Eylül University [Izmir] (DEÜ), Institut Pasteur d'Algérie, Réseau International des Instituts Pasteur (RIIP), Department of Pediatrics [Riyadh], King Fahad Medical City, Department of Pediatrics Infectious Diseases and Clinical Immunology [Kiev], Department of Pediatrics, Comenius University Medical School [Bratislava], University Children's Hospital, Bratislava, Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unit of Biochemistry [Tlalpan], Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán - National Institute of Medical Science and Nutrition Salvador Zubiran [Mexico], Microbiology Research Laboratory, Hospital General O'Horan and Infectious Diseases Research Unit [Merida], Hosp Reg Alta Especialidad Peninsula Yucatan, Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Institut Pasteur de Tunis, Shahid Beheshti University of Medical Sciences [Tehran] (SBUMS), Shahid Beheshti University, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University [New York], French Reference Center for Primary Immune Deficiencies (CEREDIH), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Pediatrics, Prince Naif Center for Immunology Research, College of Medicine, King Saud University [Riyadh] (KSU), F.C. was supported by the Department of Public Health and Cellular Biology, University of Rome Tor Vergata. A.G. was supported by the French National Research Agency (ANR). The Laboratory of Human Genetics of Infectious Diseases is supported by institutional grants from INSERM, University Paris Descartes, the Rockefeller University, and the St Giles Foundation and grants from the French National Research Agency (ANR) under the 'Investments for the Future' program (grant no. ANR-10-IAHU-01) and grant IFNGPHOX (no. ANR13-ISV3-0001-01). E.B.d.O. and A.C.-N. are supported by Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP grants 2012/11757-2, 2010/51814-0, and 2012/51094-2) and Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPQ grant 303809/2010-8). S.P.-S. is supported by Consejo Nacional de Ciencia y Tecnología (CONACYT, grant 182817)., Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Rome Tor Vergata, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Dokuz Eylul University, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán - National Institute of Medical Science and Nutrition Salvador Zubiran, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Shahid Beheshti University of Medical Sciences, St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, rockefeller university, Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Génétique Humaine des Maladies Infectieuses ( Inserm U980 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), University of São Paulo ( USP ), Faculty of Science of Ben M'sik, King Hassan II University–Mohammedia, Casablanca, American University of Beirut [Beyrouth], Faculty of Medicine, Dokuz Eylül University, Izmir, Institut Pasteur d'Algérie-Réseau International des Instituts Pasteur ( RIIP ), Centre Hospitalier Universitaire de La Réunion ( CHU La Réunion ), Natl Inst Med Sci & Nutr Salvador Zubiran, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Institut Pasteur de Tunis-Réseau International des Instituts Pasteur ( RIIP ), and King Saud University [Riyadh] ( KSU )
- Subjects
0301 basic medicine ,Male ,MESH : Retrospective Studies ,[SDV]Life Sciences [q-bio] ,Disease ,MESH : Child, Preschool ,chronic granulomatous disease ,Granulomatous Disease, Chronic ,0302 clinical medicine ,Chronic granulomatous disease ,MESH : Child ,MESH: Granulomatous Disease, Chronic ,MESH: Child ,Immunology and Allergy ,Disseminated disease ,MESH : Female ,BCG ,MESH: Tuberculosis ,MESH : BCG Vaccine ,Child ,biology ,MESH: Patient Outcome Assessment ,MESH : Infant ,Bacterial Infections ,MESH : Tuberculosis ,MESH: Infant ,MESH : Patient Outcome Assessment ,3. Good health ,Vaccination ,MESH : Bacterial Infections ,MESH: BCG Vaccine ,tuberculosis ,Mycobacterium ulcerans ,Child, Preschool ,BCG Vaccine ,Female ,Tuberculosis ,MESH: Bacterial Infections ,MESH : Male ,Immunology ,primary immunodeficiency ,03 medical and health sciences ,MESH: Mycoses ,medicine ,Humans ,MESH: Mycobacterium Infections ,Retrospective Studies ,MESH : Mycoses ,Mycobacterium Infections ,MESH: Humans ,[ SDV ] Life Sciences [q-bio] ,business.industry ,MESH : Humans ,MESH: Child, Preschool ,Infant ,Mycobacteria ,MESH: Retrospective Studies ,medicine.disease ,biology.organism_classification ,MESH: Male ,Patient Outcome Assessment ,030104 developmental biology ,Mycoses ,MESH : Mycobacterium Infections ,Primary immunodeficiency ,MESH : Granulomatous Disease, Chronic ,business ,BCG vaccine ,MESH: Female ,030215 immunology - Abstract
International audience; 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.
- Published
- 2016
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