Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders


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Stray-Pedersen A., Sorte H. S. , Samarakoon P., Gambin T., Chinn I. K. , Akdemir Z. H. C. , ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.139, no.1, pp.232-245, 2017 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 139 Issue: 1
  • Publication Date: 2017
  • Doi Number: 10.1016/j.jaci.2016.05.042
  • Journal Name: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.232-245

Abstract

Background: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions. Objective: We sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs.