Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

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dc.contributor.authorBoisson-Dupuis, Stephanie
dc.contributor.authorBustamante, Jacinta
dc.contributor.authorEl-Baghdadi, Jamila
dc.contributor.authorCamcioglu, Yildiz
dc.contributor.authorParvaneh, Nima
dc.contributor.authorEl Azbaoui, Safaa
dc.contributor.authorAgader, Aomar
dc.date.accessioned2024-02-23T14:24:17Z
dc.date.available2024-02-23T14:24:17Z
dc.date.issued2015
dc.departmentNEÜen_US
dc.description.abstractTuberculosis (TB), caused by Mycobacterium tuberculosis (M.tb) and a few related mycobacteria, is a devastating disease, killing more than a million individuals per year worldwide. However, its pathogenesis remains largely elusive, as only a small proportion of infected individuals develop clinical disease either during primary infection or during reactivation from latency or secondary infection. Subacute, hematogenous, and extrapulmonary disease tends to be more frequent in infants, children, and teenagers than in adults. Life-threatening primary TB of childhood can result from known acquired or inherited immunodeficiencies, although the vast majority of cases remain unexplained. We review here the conditions conferring a predisposition to childhood clinical diseases caused by mycobacteria, including not only M.tb but also weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria. Infections with weakly virulent mycobacteria are much rarer than TB, but the inherited and acquired immunodeficiencies underlying these infections are much better known. Their study has also provided genetic and immunological insights into childhood TB, as illustrated by the discovery of single-gene inborn errors of IFN- immunity underlying severe cases of TB. Novel findings are expected from ongoing and future human genetic studies of childhood TB in countries that combine a high proportion of consanguineous marriages, a high incidence of TB, and an excellent clinical care, such as Iran, Morocco, and Turkey.en_US
dc.description.sponsorshipEuropean Research Council [ERC-2010-AdG-268777]; French National Research Agency (ANR) [ANR-10-IAHU-01, ANR-08-MIEN-014-02]; Institut National de la Sante et de la Recherche Medicale, Universite Paris Descartes; St. Giles Foundation; Rockefeller University from the National Center for Research Resources [8ULTR000043]; National Center for Advancing Sciences (NCATS) of the National Institute of Health; Rockefeller University; National Institute of Allergy and Infectious Diseases [U01AI088685, R01AI089970, R37AI095983]en_US
dc.description.sponsorshipWe thank all clinicians from many countries around the world for their help and contribution in the investigation of TB patients. Special thanks to A. Strickler and J. F. Emile for providing the pictures. We also thank all members of the Necker and Rockefeller branches of the Laboratory of Human Genetics of Infectious Diseases. This work was supported by grants from the European Research Council (ERC-2010-AdG-268777), the French National Research Agency (ANR) under the Investments for the Future grant number ANR-10-IAHU-01, ANR-08-MIEN-014-02, Institut National de la Sante et de la Recherche Medicale, Universite Paris Descartes, the St. Giles Foundation, the Rockefeller University grant number 8ULTR000043 from the National Center for Research Resources and the National Center for Advancing Sciences (NCATS) of the National Institute of Health, the Rockefeller University, the National Institute of Allergy and Infectious Diseases grant number U01AI088685, R01AI089970, and R37AI095983. The authors have no financial or commercial conflict of interest to declare.en_US
dc.identifier.doi10.1111/imr.12272
dc.identifier.endpage120en_US
dc.identifier.issn0105-2896
dc.identifier.issn1600-065X
dc.identifier.issue1en_US
dc.identifier.pmid25703555en_US
dc.identifier.scopus2-s2.0-84923170439en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage103en_US
dc.identifier.urihttps://doi.org/10.1111/imr.12272
dc.identifier.urihttps://hdl.handle.net/20.500.12452/13890
dc.identifier.volume264en_US
dc.identifier.wosWOS:000350167200008en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofImmunological Reviewsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectPrimary Immunodeficiencyen_US
dc.subjectHuman Geneticsen_US
dc.subjectIfn-en_US
dc.subjectChildrenen_US
dc.subjectMendelian Susceptibility To Mycobacterial Diseases (Msmd)en_US
dc.titleInherited and acquired immunodeficiencies underlying tuberculosis in childhooden_US
dc.typeReview Articleen_US

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