… Rapid molecular diagnostics of severe primary immunodeficiency determined by using
targeted next-generation sequencing. J Allergy Clin Immunol. (2016) 138:1142–51.…

… The NGS was … The NGS allows us different levels of study according to the interest of ongoing
genetic research and has been extremely useful in assessing primary immunodeficiencies. …

… We aimed to study the use of NGS in a clinical setting. To this end, we selected all … of NGS
in patients that had previously been clinically diagnosed with a primary immunodeficiency or …

… Primary immunodeficiency (PID) disorders are a heterogeneous group of inherited disorders
caused by a variety of monogenetic immune defects. Thus far, mutations in more than 170 …

… Primary immunodeficiencies comprise a group of inborn … Next-generation sequencing
techniques and predominantly … of new genes associated with primary immunodeficiencies. In this …

… Molecular genetics techniques are an essential diagnostic tool for primary immunodeficiency
diseases (PIDs). The use of next-generation sequencing (NGS) provides a comprehensive …

… associated with severe combined immunodeficiency (SCID) and … Using a targeted gene
panel (TGP)-based NGS strategy, … Here, we describe our targeted NGS results for patients who …

… This paper provides the most updated classification of primary immunodeficiencies. …
This paper discusses the most recently discovered primary immunodeficiencies and a clinical …

… This study aims to validate a targeted next-generation sequencing panel of 300 genes to
diagnose a cohort of 129 patients with primary immunodeficiency with no prior molecular …

… We showed in two patients that our primary immunodeficiency array is capable to find the
underlying genetic defect. In both, we found a mutation in a coding region leading to an amino …