Further delineation of primary B cell immunodeficiency caused by novel variants of the BLNK gene in two Chinese patients.
Sign Up to like & getrecommendations! Published in 2020 at "Clinical immunology"
DOI: 10.1016/j.clim.2020.108387
Abstract: Biallelic variants in BLNK cause primary B-cell immunodeficiency that usually results in absence of B cells and immunoglobulin. Here, we identified disease-causing variant(s) in two unrelated Chinese patients with agammaglobulinemia. Patient 1 showed a moderate… read more here.
Keywords: primary cell; chinese patients; cell immunodeficiency; variants blnk ... See more keywords
Mutations in topoisomerase IIβ result in a B cell immunodeficiency
Sign Up to like & getrecommendations! Published in 2019 at "Nature Communications"
DOI: 10.1038/s41467-019-11570-6
Abstract: B cell development is a highly regulated process involving multiple differentiation steps, yet many details regarding this pathway remain unknown. Sequencing of patients with B cell-restricted immunodeficiency reveals autosomal dominant mutations in TOP2B. TOP2B encodes… read more here.
Keywords: immunodeficiency; cell development; mutations topoisomerase; cell immunodeficiency ... See more keywords
Short telomere syndromes cause a primary T cell immunodeficiency
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Investigation"
DOI: 10.1172/jci120216
Abstract: The mechanisms that drive T cell aging are not understood. We report that children and adult telomerase mutation carriers with short telomere length (TL) develop a T cell immunodeficiency that can manifest in the absence… read more here.
Keywords: mutation carriers; apoptosis; cell immunodeficiency; short telomere ... See more keywords