Next generation sequencing data analysis in primary immunodeficiency disorders–future directions

M Fang, H Abolhassani, CK Lim, J Zhang… - Journal of clinical …, 2016 - Springer
Primary immunodeficiency diseases (PIDs) comprise a group of highly heterogeneous
immune system diseases and around 300 forms of PID have been described to date. Next …

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 …

The utility of next‐generation sequencing for primary immunodeficiency disorders: experience from a clinical diagnostic laboratory

A Bisgin, I Boga, M Yilmaz, G Bingol… - BioMed research …, 2018 - Wiley Online Library
Introduction. Primary immune deficiency disorders (PIDs) are a group of diseases with
profound defects in immune cells. The traditional diagnostics have evolved from clinical …

[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 …

[HTML][HTML] Diagnostics of primary immunodeficiency diseases: a sequencing capture approach

LN Moens, E Falk-Sörqvist, AC Asplund… - PloS one, 2014 - journals.plos.org
Primary Immunodeficiencies (PID) are genetically inherited disorders characterized by
defects of the immune system, leading to increased susceptibility to infection. Due to the …

[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 …

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 …

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 …

RAPID: resource of Asian primary immunodeficiency diseases

S Keerthikumar, R Raju, K Kandasamy… - Nucleic acids …, 2009 - academic.oup.com
Availability of a freely accessible, dynamic and integrated database for primary
immunodeficiency diseases (PID) is important both for researchers as well as clinicians. To …

Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders

A Stray-Pedersen, HS Sorte, P Samarakoon… - Journal of Allergy and …, 2017 - Elsevier
Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The …