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Journal Articles Journal of Allergy and Clinical Immunology Year : 2016

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 G 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)
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 Hôpital 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]
Carolina Prando
Silvia Danielian
  • Function : Author
  • PersonId : 943736
Mohamed-Ridha Barbouche
  • Function : Author
  • PersonId : 917302

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.

Dates and versions

pasteur-01466079 , version 1 (13-02-2017)

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