18
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Cystic fibrosis carriership and tuberculosis: hints toward an evolutionary selective advantage based on data from the Brazilian territory

      research-article

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Background

          The reason why Cystic Fibrosis (CF) is the most common fatal genetic disease among Caucasians has been incompletely studied. We aimed at deepening the hypothesis that CF carriers have a relative protection against Mycobacterium tuberculosis (Mtb) infection.

          Methods

          Applying spatial epidemiology, we studied the link between CF carriership rate and tuberculosis (TB) incidence in Brazil. We corrected for 5 potential environmental and 2 immunological confounders in this relation: monthly income, sanitary provisions, literacy rates, racial composition and population density along with AIDS incidence rates and diabetes mellitus type 2. Smoking data were incomplete and not available for analysis.

          Results

          A significant, negative correlation between CF carriership rate and TB incidence, independent of any of the seven confounders was found.

          Conclusion

          We provide exploratory support for the hypothesis that carrying a single CFTR mutation arms against Mtb infections.

          Related collections

          Most cited references24

          • Record: found
          • Abstract: found
          • Article: not found

          Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

          Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.4 years. In 78 patients, this infection was caused by Bacille Calmette-Guérin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n = 9) or Mycobacterium tuberculosis (n = 4). Twenty-two of the remaining 24 probands initially presented with nontyphoidal, extraintestinal salmonellosis. Twenty of the 29 genetically affected sibs displayed clinical signs (69%); however 8 remained asymptomatic (27%). Nine nongenotyped sibs with symptoms died. Recurrent BCG infection was diagnosed in 15 cases, recurrent EM in 3 cases, recurrent salmonellosis in 22 patients. Ninety of the 132 symptomatic patients had infections with a single microorganism. Multiple infections were diagnosed in 40 cases, with combined mycobacteriosis and salmonellosis in 36 individuals. BCG disease strongly protected against subsequent EM disease (p = 0.00008). Various other infectious diseases occurred, albeit each rarely, yet candidiasis was reported in 33 of the patients (23%). Ninety-nine patients (70%) survived, with a mean age at last follow-up visit of 12.7 years ± 9.8 years (range, 0.5-46.4 yr). IL-12Rβ1 deficiency is characterized by childhood-onset mycobacteriosis and salmonellosis, rare recurrences of mycobacterial disease, and more frequent recurrence of salmonellosis. The condition has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought.
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.

            Tuberculosis (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-γ 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.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Severe infectious diseases of childhood as monogenic inborn errors of immunity.

              This paper reviews the developments that have occurred in the field of human genetics of infectious diseases from the second half of the 20th century onward. In particular, it stresses and explains the importance of the recently described monogenic inborn errors of immunity underlying resistance or susceptibility to specific infections. The monogenic component of the genetic theory provides a plausible explanation for the occurrence of severe infectious diseases during primary infection. Over the last 20 y, increasing numbers of life-threatening infectious diseases striking otherwise healthy children, adolescents, and even young adults have been attributed to single-gene inborn errors of immunity. These studies were inspired by seminal but neglected findings in plant and animal infections. Infectious diseases typically manifest as sporadic traits because human genotypes often display incomplete penetrance (most genetically predisposed individuals remain healthy) and variable expressivity (different infections can be allelic at the same locus). Infectious diseases of childhood, once thought to be archetypal environmental diseases, actually may be among the most genetically determined conditions of mankind. This nascent and testable notion has interesting medical and biological implications.
                Bookmark

                Author and article information

                Contributors
                lsmmb2@cam.ac.uk
                +1 212-327-7335 , bbosch@rockefeller.edu
                christiane.deboeck@uzleuven.be
                tim.nawrot@uhasselt.be
                isabelle.meyts@uzleuven.be
                dominique.vanneste@kuleuven.be
                rf25@ucdb.br
                juliocroda@gmail.com
                vicres@usp.br
                Journal
                BMC Infect Dis
                BMC Infect. Dis
                BMC Infectious Diseases
                BioMed Central (London )
                1471-2334
                12 May 2017
                12 May 2017
                2017
                : 17
                : 340
                Affiliations
                [1 ]ISNI 0000000121885934, GRID grid.5335.0, Department of Geography, , University of Cambridge, ; Downing Place, Cambridge, CB2 3EN UK
                [2 ]Fundação Oswaldo Cruz Mato Grosso do Sul, Rua Gabriel Abrão s/n, Jardim das Nações, Campo Grande, MS 79081-746 Brazil
                [3 ]ISNI 0000 0001 2166 1519, GRID grid.134907.8, St Giles Laboratory of Human Genetics of Infectious Disease, Rockefeller branch, , Rockefeller University, ; 1230 York Avenue, New York, NY 10065 USA
                [4 ]ISNI 0000 0004 0626 3338, GRID grid.410569.f, Department of Pediatrics, , University Hospitals Leuven, ; Herestraat 49, 3000 Leuven, Belgium
                [5 ]ISNI 0000 0001 0604 5662, GRID grid.12155.32, Centre for Environmental Sciences, , Hasselt University, ; Martelarenlaan 42, 3500 Hasselt, Belgium
                [6 ]ISNI 0000 0001 0668 7884, GRID grid.5596.f, Department of Public Health & Primary Care, , Occupational & Environmental Medicine, KULeuven, ; Herestraat 49, 3000 Leuven, Belgium
                [7 ]ISNI 0000 0001 0668 7884, GRID grid.5596.f, Division of Geography, , KULeuven, ; Celestijnenlaan 200E, 3001 Leuven, Belgium
                [8 ]GRID grid.442132.2, Mestrado e Doutorado em Desenvolvimento Local, , Universidade Católica Dom Bosco, ; Av. Tamandaré 6000, Jardim Seminário, Campo Grande, MS 70117-900 Brazil
                [9 ]Fundação Oswaldo Cruz Mato Grosso do Sul, Rua Gabriel Abrão s/n, Jardim das Nações, Campo Grande, MS 79081-746 Brazil
                [10 ]ISNI 0000 0004 0388 2432, GRID grid.412335.2, Faculdade de Ciências da Saúde, , Universidade Federal de Grande Dourados, ; Rodovia Dourados, Itahum km 12, Cidade Universitaria, Cx. Postal 533, Dourados, MS 79804-970 Brazil
                [11 ]ISNI 0000 0004 1937 0722, GRID grid.11899.38, Instituto da Criança, Hospital das Clínicas, , University of São Paulo Medical School, ; Av. Dr. Enéas Carvalho de Aguiar 647, São Paulo, SP 05403-000 Brazil
                [12 ]ISNI 0000 0001 0385 1941, GRID grid.413562.7, Instituto de Ensino e Pesquisa, , Hospital Israelita Albert Einstein, ; Av. Albert Einstein 627, Morumbi, São Paulo, SP 05652-000 Brazil
                Author information
                http://orcid.org/0000-0001-7708-6461
                Article
                2448
                10.1186/s12879-017-2448-z
                5429554
                28499359
                7a041b15-7370-491e-9487-0e93e27c370f
                © The Author(s). 2017

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                History
                : 24 January 2017
                : 7 May 2017
                Funding
                Funded by: FundRef http://dx.doi.org/10.13039/501100003130, Fonds Wetenschappelijk Onderzoek;
                Award ID: 11V5316N
                Award Recipient :
                Funded by: FundRef http://dx.doi.org/10.13039/501100000780, European Commission;
                Award ID: Erasmus Mundus Category B sholarship
                Award Recipient :
                Categories
                Research Article
                Custom metadata
                © The Author(s) 2017

                Infectious disease & Microbiology
                cystic fibrosis,tuberculosis,spatial epidemiology,brazil,resistance genetics

                Comments

                Comment on this article