Qin Zhao

TL;DR: This report describes the important issues considered by the CAP committee during the development of the new checklist requirements, which address documentation, validation, quality assurance, confirmatory testing, exception logs, monitoring of upgrades, variant interpretation and reporting, incidental findings, data storage, version traceability and data transfer confidentiality.

TL;DR: The results indicate that in silico proficiency testing is a feasible approach for methods-based proficiency testing, and demonstrate that the sensitivity and specificity of current next-generation sequencing bioinformatics across clinical laboratories are high.

TL;DR: The susceptibility to infections and immunological deficiency phenotypes, observed in AD-LOF patients, confirms the importance of STAT1 in host-pathogen interaction and immunity, but variability in the nature and extent of these phenotypes suggests that functional analysis is required to identify accurately novel, heterozygous STAT1 mutations, associated with pathogenicity.

TL;DR: These patients present with generalized granulomas, severe complications after viral hypogammaglobulinemia, and various autoim-mune manifestations.

TL;DR: WASp deficiency selectively affected the T CR diversity of different memory T cell subsets, and it had more impact on the TCRVβ diversity of CD4+ TEM cells than CD8+ TCM cells.