TY  - JOUR
AU  - Rudilla, Francesc
AU  - Franco-Jarava, Clara
AU  - Martínez-Gallo, Mónica
AU  - Garcia-Prat, Marina
AU  - Martín-Nalda, Andrea
AU  - Rivière, Jacques
AU  - Aguiló-Cucurull, Aina
AU  - Mongay, Laura
AU  - Vidal, Francisco
AU  - Solanich, Xavier
AU  - Irastorza, Iñaki
AU  - Santos-Pérez, Juan Luis
AU  - Tercedor Sánchez, Jesús
AU  - Cuscó, Ivon
AU  - Serra, Clara
AU  - Baz-Redón, Noelia
AU  - Fernández-Cancio, Mónica
AU  - Carreras, Carmen
AU  - Vagace, José Manuel
AU  - Garcia-Patos, Vicenç
AU  - Pujol-Borrell, Ricardo
AU  - Soler-Palacín, Pere
AU  - Colobran, Roger
PY  - 2019
DO  - 10.3389/fimmu.2019.02325
UR  - http://hdl.handle.net/10668/14625
T2  - Frontiers in immunology
AB  - 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)...
LA  - en
KW  - TruSight one sequencing panel
KW  - clinical exome sequencing
KW  - genetic variants
KW  - mutations
KW  - next generation sequencing
KW  - primary immunodeficiencies
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Genetic Variation
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Phenotype
KW  - Primary Immunodeficiency Diseases
KW  - Exome Sequencing
KW  - Young Adult
TI  - Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
TY  - research article
VL  - 10
ER  -