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

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dc.contributor.authorConti, Francesca
dc.contributor.authorOswaldo Lugo-Reyes, Saul
dc.contributor.authorBlancas Galicia, Lizbeth
dc.contributor.authorHe, Jianxin
dc.contributor.authorAksu, Guzide
dc.contributor.authorde Oliveira, Edgar Borges, Jr.
dc.contributor.authorDeswarte, Caroline
dc.date.accessioned2024-02-23T14:12:29Z
dc.date.available2024-02-23T14:12:29Z
dc.date.issued2016
dc.departmentNEÜen_US
dc.description.abstractBackground: 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.en_US
dc.description.sponsorshipDepartment of Public Health and Cellular Biology, University of Rome Tor Vergata; French National Research Agency (ANR); INSERM; University Paris Descartes; Rockefeller University; St Giles Foundation; French National Research Agency (ANR) under the Investments for the Future program [ANR-10-IAHU-01]; French National Research Agency (ANR) under the grant IFNGPHOX [ANR13-ISV3-0001-01]; Fundacao de Amparoa Pesquisa do Estado de So Paulo (FAPESP) [2012/11757-2, 2010/51814-0, 2012/51094-2]; Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPQ) [303809/2010-8]; Consejo Nacional de Ciencia y Tecnologia (CONACYT) [182817]; Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [12/11757-2] Funding Source: FAPESPen_US
dc.description.sponsorshipF.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 Fundacao de Amparoa Pesquisa do Estado de So Paulo (FAPESP grants 2012/11757-2, 2010/51814-0, and 2012/51094-2) and Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPQ grant 303809/2010-8). S.P.-S. is supported by Consejo Nacional de Ciencia y Tecnologia (CONACYT, grant 182817).en_US
dc.identifier.doi10.1016/j.jaci.2015.11.041
dc.identifier.endpage+en_US
dc.identifier.issn0091-6749
dc.identifier.issn1097-6825
dc.identifier.issue1en_US
dc.identifier.pmid26936803en_US
dc.identifier.scopus2-s2.0-84959232445en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage241en_US
dc.identifier.urihttps://doi.org/10.1016/j.jaci.2015.11.041
dc.identifier.urihttps://hdl.handle.net/20.500.12452/12077
dc.identifier.volume138en_US
dc.identifier.wosWOS:000379659100026en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMosby-Elsevieren_US
dc.relation.ispartofJournal Of Allergy And Clinical Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectMycobacteriaen_US
dc.subjectBcgen_US
dc.subjectChronic Granulomatous Diseaseen_US
dc.subjectTuberculosisen_US
dc.subjectPrimary Immunodeficiencyen_US
dc.titleMycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 casesen_US
dc.typeArticleen_US

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