10.3389/fimmu.2019.02325.s001
Francesc Rudilla
Francesc
Rudilla
Clara Franco-Jarava
Clara
Franco-Jarava
Mónica Martínez-Gallo
Mónica
Martínez-Gallo
Marina Garcia-Prat
Marina
Garcia-Prat
Andrea Martín-Nalda
Andrea
Martín-Nalda
Jacques Rivière
Jacques
Rivière
Aina Aguiló-Cucurull
Aina
Aguiló-Cucurull
Laura Mongay
Laura
Mongay
Francisco Vidal
Francisco
Vidal
Xavier Solanich
Xavier
Solanich
Iñaki Irastorza
Iñaki
Irastorza
Juan Luis Santos-Pérez
Juan Luis
Santos-Pérez
Jesús Tercedor Sánchez
Jesús Tercedor
Sánchez
Ivon Cuscó
Ivon
Cuscó
Clara Serra
Clara
Serra
Noelia Baz-Redón
Noelia
Baz-Redón
Mónica Fernández-Cancio
Mónica
Fernández-Cancio
Carmen Carreras
Carmen
Carreras
José Manuel Vagace
José Manuel
Vagace
Vicenç Garcia-Patos
Vicenç
Garcia-Patos
Ricardo Pujol-Borrell
Ricardo
Pujol-Borrell
Pere Soler-Palacín
Pere
Soler-Palacín
Roger Colobran
Roger
Colobran
Table_1_Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.DOCX
Frontiers
2019
primary immunodeficiencies
next generation sequencing
clinical exome sequencing
TruSight one sequencing panel
mutations
genetic variants
2019-10-01 04:48:19
Dataset
https://frontiersin.figshare.com/articles/dataset/Table_1_Expanding_the_Clinical_and_Genetic_Spectra_of_Primary_Immunodeficiency-Related_Disorders_With_Clinical_Exome_Sequencing_Expected_and_Unexpected_Findings_DOCX/9923237
<p>Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or function of the immune system. The increasing use of next-generation sequencing (NGS) technology has greatly facilitated identification of genetic defects in PID patients in daily clinical practice. Several NGS approaches are available, from the unbiased whole exome sequencing (WES) to specific gene panels. Here, we report on a 3-year experience with clinical exome sequencing (CES) for genetic diagnosis of PIDs. We used the TruSight One sequencing panel, which includes 4,813 disease-associated genes, in 61 unrelated patients (pediatric and adults). The analysis was done in 2 steps: first, we focused on a virtual PID panel and then, we expanded the analysis to the remaining genes. A molecular diagnosis was achieved in 19 (31%) patients: 12 (20%) with mutations in genes included in the virtual PID panel and 7 (11%) with mutations in other genes. These latter cases provided interesting and somewhat unexpected findings that expand the clinical and genetic spectra of PID-related disorders, and are useful to consider in the differential diagnosis. We also discuss 5 patients (8%) with incomplete genotypes or variants of uncertain significance. Finally, we address the limitations of CES exemplified by 7 patients (11%) with negative results on CES who were later diagnosed by other approaches (more specific PID panels, WES, and comparative genomic hybridization array). In summary, the genetic diagnosis rate using CES was 31% (including a description of 12 novel mutations), which rose to 42% after including diagnoses achieved by later use of other techniques. The description of patients with mutations in genes not included in the PID classification illustrates the heterogeneity and complexity of PID-related disorders.</p>