The significance of Western Blot in Primary Immunodeficiencies: Examples from two families


Halacli S. O. , Cagdas D. N. , TEZCAN F. İ.

TURKISH JOURNAL OF IMMUNOLOGY, cilt.7, ss.120-124, 2019 (ESCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 7 Konu: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.25002/tji.2019.1178
  • Dergi Adı: TURKISH JOURNAL OF IMMUNOLOGY
  • Sayfa Sayıları: ss.120-124

Özet

Introduction: Primary immunodeficiencies (PID) with extended clinical spectrum, evaluated in rare genetic disorders, are difficult to diagnose and treat. Utilization of the next generation sequencing more than 300 genes have been associated with PIDs and new genes are continued to be determined. Even though, variants identified by the next generation sequencing are described as pathogenic in silico, investigating their possible pathogenic roles by analysing protein expression is crucial in patients. Western blot method is an old and reliable method used in molecular biology to investigate the responses of intracellular and extracellular proteins to exogenous stimuli and evaluate protein expression as existing or lost, increased or decreased as well as determining cell-specific protein isoforms, and in particular truncated proteins responsible for occurrence of a disease.