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

Publication date: Available online 28 February 2016
Source:Journal of Allergy and Clinical Immunology
Author(s): Francesca Conti, Saul Oswaldo Lugo-Reyes, Lizbeth Blancas Galicia, Jianxin He, Güzide Aksu, Edgar Borges de Oliveira, Caroline Deswarte, Marjorie Hubeau, Neslihan Karaca, Maylis de Suremain, Antoine Guérin, Laila Ait Baba, Carolina Prando, Gloria G. Guerrero, Melike Emiroglu, Fatma Nur Öz, Marco Antonio Yamazaki Nakashimada, Edith Gonzalez Serrano, Sara Espinosa, Isil Barlan, Nestor Pérez, Lorena Regairaz, Héctor Eduardo Guidos Morales, Liliana Bezrodnik, Daniela Di Giovanni, Ghassan Dbaibo, Fatima Ailal, Miguel Galicchio, Matias Oleastro, Jalel Chemli, Silvia Danielian, Laura Perez, Maria Claudia Ortega, Susana Soto Lavin, Joseph Hertecant, Ozden Anal, Nadia Kechout, Eman Al-Idrissi, Gehad ElGhazali, Anastasia Bondarenko, Liudmyla Chernyshova, Peter Ciznar, Rose-Marie Herbigneaux, Aminata Diabate, Stéphanie Ndaga, Barik Konte, Ambre Czarna, Mélanie Migaud, Sigifredo Pedraza-Sánchez, Mussaret Bano Zaidi, Guillaume Vogt, Stéphane Blanche, Imen Benmustapha, Davood Mansouri, Laurent Abel, Stéphanie Boisson-Dupuis, Nizar Mahlaoui, Ahmed Aziz Bousfiha, Capucine Picard, Ridha Barbouche, Saleh Al-Muhsen, Francisco J. Espinosa-Rosales, Necil Kütükçüler, Antonio Condino-Neto, Jean-Laurent Casanova, Jacinta Bustamante
BackgroundChronic 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.ObjectiveOur objective was to assess the effect of mycobacterial disease in patients with CGD.MethodsWe 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.ResultsThirty-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.ConclusionMycobacterial 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.

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