Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders


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

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.139, ss.232-245, 2017 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 139 Konu: 1
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.jaci.2016.05.042
  • Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Sayfa Sayısı: ss.232-245

Özet

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.