[HTML][HTML] Uses of next-generation sequencing technologies for the diagnosis of primary immunodeficiencies

M Seleman, R Hoyos-Bachiloglu, RS Geha… - Frontiers in …, 2017 - frontiersin.org
Primary immunodeficiencies (PIDs) are genetic disorders impairing host immunity, leading
to life-threatening infections, autoimmunity, and/or malignancies. Genomic technologies …

Contribution of high‐throughput DNA sequencing to the study of primary immunodeficiencies

C Picard, A Fischer - European journal of immunology, 2014 - Wiley Online Library
Primary immunodeficiencies (PIDs) are inborn errors of the immune system. PIDs have been
characterized immunologically for the last 60 years and genetically, principally by Sanger …

[HTML][HTML] Expanding the clinical and genetic spectra of primary immunodeficiency-related disorders with clinical exome sequencing: expected and unexpected findings

F Rudilla, C Franco-Jarava, M Martínez-Gallo… - Frontiers in …, 2019 - frontiersin.org
Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically
heterogeneous group of over 350 disorders affecting development or function of the immune …

[HTML][HTML] Diagnostics of primary immunodeficiencies through next-generation sequencing

V Gallo, L Dotta, G Giardino, E Cirillo… - Frontiers in …, 2016 - frontiersin.org
Background Recently, a growing number of novel genetic defects underlying primary
immunodeficiencies (PIDs) have been identified, increasing the number of PID up to more …

[HTML][HTML] Targeted NGS: a cost-effective approach to molecular diagnosis of PIDs

JL Stoddard, JE Niemela, TA Fleisher… - Frontiers in …, 2014 - frontiersin.org
Background: Primary immunodeficiencies (PIDs) are a diverse group of disorders caused by
multiple genetic defects. Obtaining a molecular diagnosis for PID patients using a phenotype …

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies

IJ Nijman, JM van Montfrans, M Hoogstraat… - Journal of Allergy and …, 2014 - Elsevier
Background Primary immunodeficiency (PID) disorders are a heterogeneous group of
inherited disorders caused by a variety of monogenetic immune defects. Thus far, mutations …

[HTML][HTML] Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies

C Cifaldi, I Brigida, F Barzaghi, M Zoccolillo… - Frontiers in …, 2019 - frontiersin.org
Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic
immune disorders. While some PIDs can manifest with more than one phenotype, signs, and …

[HTML][HTML] Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

P Arts, A Simons, MS AlZahrani, E Yilmaz, E AlIdrissi… - Genome Medicine, 2019 - Springer
Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome
yet important for the clinical management of the disease. Exome sequencing may provide a …

[HTML][HTML] Diagnostic yield of next generation sequencing in genetically undiagnosed patients with primary immunodeficiencies: a systematic review

HAF Yska, K Elsink, TW Kuijpers, GWJ Frederix… - Journal of clinical …, 2019 - Springer
Background As the application of next generation sequencing (NGS) is moving to earlier
stages in the diagnostic pipeline for primary immunodeficiencies (PIDs), re-evaluation of its …

Utility of next generation sequencing in clinical primary immunodeficiencies

N Raje, S Soden, D Swanson, CE Ciaccio… - Current allergy and …, 2014 - Springer
Primary immunodeficiencies (PIDs) are a group of genetically heterogeneous disorders that
present with very similar symptoms, complicating definitive diagnosis. More than 240 genes …