Diagnostic yield and therapeutic consequences of targeted next-generation sequencing in sporadic primary immunodeficiency
G Sogkas, N Dubrowinskaja, K Schütz… - … Archives of Allergy and …, 2022 - karger.com
Abstract Introduction: Primary immunodeficiencies (PIDs) are a heterogeneous group of
disorders characterized by increased susceptibility to infections, immune dysregulation …
disorders characterized by increased susceptibility to infections, immune dysregulation …
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] Next-generation sequencing in the field of primary immunodeficiencies: current yield, challenges, and future perspectives
Primary immunodeficiencies comprise a group of inborn errors of immunity that display
significant clinical and genetic heterogeneity. Next-generation sequencing techniques and …
significant clinical and genetic heterogeneity. Next-generation sequencing techniques and …
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases
H Al-Mousa, M Abouelhoda, DM Monies… - Journal of Allergy and …, 2016 - Elsevier
Background Molecular genetics techniques are an essential diagnostic tool for primary
immunodeficiency diseases (PIDs). The use of next-generation sequencing (NGS) provides …
immunodeficiency diseases (PIDs). The use of next-generation sequencing (NGS) provides …
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 …
[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] 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 …
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] 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 …
[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 …