Francesca Conti1, Saul Oswaldo Lugo-Reyes2, Lizbeth Blancas Galicia2, Jianxin He3, Güzide Aksu4, Edgar Borges de Oliveira5, Caroline Deswarte6, Marjorie Hubeau6, Neslihan Karaca4, Maylis de Suremain6, Antoine Guérin6, Laila Ait Baba7, Carolina Prando8, Gloria G Guerrero6, Melike Emiroglu9, Fatma Nur Öz10, Marco Antonio Yamazaki Nakashimada11, Edith Gonzalez Serrano11, Sara Espinosa11, Isil Barlan12, Nestor Pérez13, Lorena Regairaz13, Héctor Eduardo Guidos Morales14, Liliana Bezrodnik15, Daniela Di Giovanni15, Ghassan Dbaibo16, Fatima Ailal17, Miguel Galicchio18, Matias Oleastro19, Jalel Chemli20, Silvia Danielian19, Laura Perez19, Maria Claudia Ortega21, Susana Soto Lavin22, Joseph Hertecant23, Ozden Anal24, Nadia Kechout25, Eman Al-Idrissi26, Gehad ElGhazali26, Anastasia Bondarenko27, Liudmyla Chernyshova27, Peter Ciznar28, Rose-Marie Herbigneaux29, Aminata Diabate30, Stéphanie Ndaga30, Barik Konte30, Ambre Czarna30, Mélanie Migaud6, Sigifredo Pedraza-Sánchez31, Mussaret Bano Zaidi32, Guillaume Vogt6, Stéphane Blanche33, Imen Benmustapha34, Davood Mansouri35, Laurent Abel36, Stéphanie Boisson-Dupuis36, Nizar Mahlaoui37, Ahmed Aziz Bousfiha17, Capucine Picard38, Ridha Barbouche34, Saleh Al-Muhsen39, Francisco J Espinosa-Rosales11, Necil Kütükçüler4, Antonio Condino-Neto40, Jean-Laurent Casanova41, Jacinta Bustamante42. 1. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Department of Public Health and Cellular Biology, University of Rome Tor Vergata, Rome, Italy. 2. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico. 3. Xicheng District Nanlishilu Road 56 Beijing Children's Hospital, Beijing, China. 4. Department of Pediatrics, Faculty of Medicine, Ege University, Bornova, Izmir, Turkey. 5. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil. 6. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France; Paris Descartes University, Imagine Institute, Paris, France. 7. Laboratory of Biology and Health UARC34-Metabolic and Immunologic Pathology Research Team, Faculty of Science of Ben M'sik, King Hassan II University-Mohammedia, Casablanca, Morocco. 8. Bioinformatics Laboratory, Pelé Pequeno Principe Research Institute, Curitiba, Brazil. 9. Department of Pediatric Infectious Diseases, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey. 10. Pediatric Infectious Diseases Department, Dr Sami Ulus Maternity and Children's Research and Training Hospital, Ankara, Turkey. 11. Department of Immunology, National Institute of Pediatrics, Mexico City, Mexico. 12. Department of Pediatrics, Allergy and Immunology, Marmara University, Istanbul, Turkey. 13. Immunology Unit, Children's Hospital "Superiora Sor María Ludovica", La Plata, Argentina. 14. Allergy and Immunology Unit, National Children's Hospital "Benjamín Bloom", San Salvador, El Salvador. 15. Immunology Unit, Children's Hospital "Ricardo Gutierrez", Buenos Aires, Argentina. 16. Department of Pediatrics, American University of Beirut-Medical Center, Beirut, Lebanon. 17. Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco. 18. Children's Hospital "Victor J. Vilela", Rosario, Argentina. 19. Department of Immunology, "Juan Pedro Garrahan" National Hospital of Pediatrics, Buenos Aires, Argentina. 20. Department of Pediatrics, Sahloul Hospital, Sousse, Tunisia. 21. Children's Hospital "San Jose" and Medical School, Bogota, Columbia. 22. Concepcion Regional Hospital, Concepción, Chile. 23. Department of Pediatrics, Tawam Hospital, Al Ain, Abu Dhabi, United Arab Emirates. 24. Department of Pediatrics, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey. 25. Department of Immunology, Pasteur Institute of Algeria, Algiers, Algeria. 26. Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia. 27. Department of Pediatrics Infectious Diseases and Clinical Immunology, Kiev, Ukraine. 28. Department of Pediatrics, Comenius University Medical School, University Children's Hospital, Bratislava, Slovakia. 29. Hematology-Oncology Unit, Reunion CHU, Saint Denis Reunion, France. 30. Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France. 31. Unit of Biochemistry, National Institute for Medical Sciences and Nutrition Salvador Zubiran, Tlalpan, Mexico. 32. Microbiology Research Laboratory, Hospital General O'Horan and Infectious Diseases Research Unit, Hospital Regional de Alta Especialidad de la Peninsula de Yucatan, Merida, Mexico. 33. Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France. 34. Laboratory of Cytoimmunology, Pasteur Institute of Tunis, Tunis-Belvèdère, Tunisia. 35. Division of Infectious Diseases and Clinical Immunology, National Research Institute of Tuberculosis and Lung Diseases, Shahid Behesti University of Medical Sciences, Tehran, Iran. 36. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, NY. 37. Paris Descartes University, Imagine Institute, Paris, France; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France; French Reference Center for Primary Immune Deficiencies (CEREDIH), Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France. 38. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, NY; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France. 39. Department of Pediatrics, Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia. 40. Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil. 41. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, NY; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute, New York, NY. 42. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, NY. Electronic address: jacinta.bustamante@inserm.fr.
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.
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.
Authors: T Barkai; R Somech; A Broides; R Gavrieli; B Wolach; N Marcus; D Hagin; T Stauber Journal: Clin Exp Immunol Date: 2020-07-13 Impact factor: 4.330