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Exome sequencing identifies a novel MAP3K14 mutation in recessive atypical combined immunodeficiency

dc.contributor.authorSchlechter, Nikolaen_ZA
dc.contributor.authorGlanzmann, Brigitteen_ZA
dc.contributor.authorHoal, Eileen Garneren_ZA
dc.contributor.authorSchoeman, Mardelleen_ZA
dc.contributor.authorPetersen, Britt-Sabinaen_ZA
dc.contributor.authorFranke, Andreen_ZA
dc.contributor.authorLau, Yu-Lungen_ZA
dc.contributor.authorUrban, Michaelen_ZA
dc.contributor.authorVan Helden, Paul Daviden_ZA
dc.contributor.authorEsser, Maria Esseren_ZA
dc.contributor.authorMoller, Marloen_ZA
dc.contributor.authorKinnear, Craigen_ZA
dc.date.accessioned2018-10-09T09:55:36Z
dc.date.available2018-10-09T09:55:36Z
dc.date.issued2017-11
dc.identifier.citationSchlechter, N. et al. 2017. Exome sequencing identifies a novel MAP3K14 mutation in recessive atypical combined immunodeficiency. Frontiers in Immunology, 8:1624, doi:10.3389/fimmu.2017.01624.
dc.identifier.issn1664-3224 (online)
dc.identifier.otherdoi:10.3389/fimmu.2017.01624
dc.identifier.urihttp://hdl.handle.net/10019.1/104548
dc.descriptionCITATION: Schlechter, N. et al. 2017. Exome sequencing identifies a novel MAP3K14 mutation in recessive atypical combined immunodeficiency. Frontiers in Immunology, 8:1624, doi:10.3389/fimmu.2017.01624.
dc.descriptionThe original publication is available at https://www.frontiersin.org/journals/immunology
dc.description.abstractENGLISH ABSTRACT: Primary immunodeficiency disorders (PIDs) render patients vulnerable to infection with a wide range of microorganisms and thus provide good in vivo models for the assessment of immune responses during infectious challenges. Priming of the immune system, especially in infancy, depends on different environmental exposures and medical practices. This may determine the timing and phenotype of clinical appearance of immune deficits as exemplified with early exposure to Bacillus Calmette-Guérin (BCG) vaccination and dissemination in combined immunodeficiencies. Varied phenotype expression poses a challenge to identification of the putative immune deficit. Without the availability of genomic diagnosis and data analysis resources and with limited capacity for functional definition of immune pathways, it is difficult to establish a definitive diagnosis and to decide on appropriate treatment.en_ZA
dc.description.sponsorshipSouth African National Research Foundation
dc.description.sponsorshipSouth African Medical Research Council
dc.description.sponsorshipHarry Crossley Foundation
dc.description.urihttps://www.frontiersin.org/articles/10.3389/fimmu.2017.01624/full
dc.format.extent15 pagesen_ZA
dc.language.isoen_ZAen_ZA
dc.publisherFrontiersen_ZA
dc.subjectPrimary immunodeficiency disordersen_ZA
dc.subjectNF-kappa B (DNA-binding protein)en_ZA
dc.subjectExomesen_ZA
dc.subjectBCG vaccineen_ZA
dc.subjectTuberculosisen_ZA
dc.titleExome sequencing identifies a novel MAP3K14 mutation in recessive atypical combined immunodeficiencyen_ZA
dc.typeArticleen_ZA
dc.description.versionPublisher's version
dc.rights.holderAuthors retain copyrighten_ZA


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