A total of 227 variants (112 total occurrences) with frequencies of less than 10% in the population were detected in 103 patients via NGS panel sequencing. Twenty-two (19.6%) of the 112 unique variants were classified as benign, 29 (25.9%) were classified as likely benign, 4 (3.9%) wer...
The relatively small target region size of a gene panel allows analyzing several samples in parallel, which reduces costs and generally results in a higher sequence coverage compared with WES or WGS. Interpretation of the restricted data output of genes that are already better characterized with resp...
Targeted next-generation sequencing using a custom-designed panel comprising all known PID genes (IUIS 2014 classification) and novel candidate genes identified a novel heterozygous frameshift mutation in the NFKB1 gene leading to a premature stop codon (c.491delG; p.G165A*31). We could show ...
Recommended uniform screening panel. In: Advisory Committee on Heritable Disorders in Newborns and Children. 2024. https://www.hrsa.gov/advisory-committees/ heritable-disorders/rusp. Accessed 10 Jan 2024. Simard LR, Bélanger MC, Morissette S, Wride M, Prior TW, Swoboda KJ. Preclinical ...
Objective We developed a next-generation sequencing (NGS)鈥揵ased multigene-targeted panel for SCID and other severe PIDDs requiring rapid therapeutic actions in a clinical laboratory setting. Methods The target gene capture/NGS assay provides an average read depth of approximately 1000脳. The deep...
B220+CD19+ FL cells were analyzed for the expression of CD43 that marks pro- B cells (middle panel). In the lower panel, cells were gated on the CD43+B220+CD19+ population and analyzed for iIgM expression. (b) Quantification of thymocyte subpopulations in the various PAXX/Xlf genotypes...
Although our results are quite consistent with the comparable recognition of a larger panel of conserved and frequently occurring variant epitopes recently reported between LTNP/EC and progressors (Sunshine et al., 2014), our methods could have potentially biased our results toward detecting responses...
Immunofluorescence detection of perforin (green) and F-Actin by phalloidin (red) in an NK-cell conjugate from Patient 1 (P1, top panel) or healthy donor (HD, bottom panel). K562 cells were used as target cells. DIC, differential interference contrast. White bar indicates 5 mm. Image is ...
In this study, we employed NGS technologies to identify three distinct mutations in NFKB1 in three CVID-affected families. The identification of mutations in this central regulator of inducible gene expression in the immune system could advance our understanding of the molecular pathomechanisms that ...
(two gp120-specific and three gp41-specific monoclonal antibodies from breast milk, and five gp120-specific monoclonal antibodies from blood). We assessed the fine epitope specificity of these Env-reactive monoclonal antibodies via binding to a panel of autologous SIVsab92018ivTF recombinant Env ...