Now showing items 1-4 of 4
Genetic resistance to mycobacterium tuberculosis infection and disease
(Frontiers Media, 2017)
Natural history studies of tuberculosis (TB) have revealed a spectrum of clinical outcomes after exposure to Mycobacterium tuberculosis, the cause of TB. Not all individuals exposed to the bacterium will become diseased ...
Exome sequencing identifies a novel MAP3K14 mutation in recessive atypical combined immunodeficiency
ENGLISH 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 ...
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa
(BioMed Central, 2017-03-14)
Background Trichohepatoenteric syndrome (THE-S) or phenotypic diarrhoea of infancy is a rare autosomal recessive disorder characterised by severe infantile diarrhoea, facial dysmorphism, immunodeficiency and woolly hair. ...
A post-GWAS analysis of predicted regulatory variants and tuberculosis susceptibility
(Public Library of Science, 2017)
Utilizing data from published tuberculosis (TB) genome-wide association studies (GWAS), we use a bioinformatics pipeline to detect all polymorphisms in linkage disequilibrium (LD) with variants previously implicated in ...