[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 …
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 …
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 …
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 …
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 …
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 …
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 …
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
Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome
yet important for the clinical management of the disease. Exome sequencing may provide a …
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 …
stages in the diagnostic pipeline for primary immunodeficiencies (PIDs), re-evaluation of its …
Utility of next generation sequencing in clinical primary immunodeficiencies
Primary immunodeficiencies (PIDs) are a group of genetically heterogeneous disorders that
present with very similar symptoms, complicating definitive diagnosis. More than 240 genes …
present with very similar symptoms, complicating definitive diagnosis. More than 240 genes …
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