Article
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
The Journal of allergy and clinical immunology - 1 Feb 2014
Nijman Isaac J, van Montfrans Joris M, Hoogstraat Marlous, Boes Marianne L, van de Corput Lisette, Renner Ellen D, van Zon Patrick, van Lieshout Stef, Elferink Martin G, van der Burg Mirjam, Vermont Clementien L, van der Zwaag Bert, Janson Esther, Cuppen Edwin, Ploos van Amstel Johannes K, van Gijn Marielle E
Abstract excerpt
BACKGROUND: 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 different genes causing PIDs have been described. A clear genotype-phenotype correlation is often not available, which makes a genetic diagnosis in patients with PIDs complex and laborious. OBJECTIVE: We sought to develop a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.