Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

dc.contributor.authorSchlechter, Nikola
dc.contributor.authorGlanzmann, Brigitte
dc.contributor.authorHoal, Eileen Garner
dc.contributor.authorSchoeman, Mardelle
dc.contributor.authorPetersen, Britt-Sabina
dc.contributor.authorFranke, Andre
dc.contributor.authorLau, Yu-Lung
dc.contributor.authorUrban, Michael
dc.contributor.authorVan Helden, Paul David
dc.contributor.authorEsser, Maria Esser
dc.contributor.authorMoller, Marlo
dc.contributor.authorKinnear, Craig
dc.description.abstractPrimary 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.subjectPrimary immunodeficiency disorders -- PIDs, infection, immune system, heritable geneticsen_ZA
dc.titleExome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiencyen_ZA

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