Division of Allergy and Immunology, Children's Hospital of Philadelphia, University of Pennsylvania, Wood Building 3rd Floor, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA.
Allergy and Immunology Division, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.
J Clin Immunol. 2018 Apr;38(3):320-329. doi: 10.1007/s10875-018-0489-8. Epub 2018 Apr 19.
Genetic testing plays a critical role in diagnosis for many primary immunodeficiency diseases. The goals of this report are to outline some of the challenges that clinical immunologists face routinely in the use of genetic testing for patient care. In addition, we provide a review of the types of genetic testing used in the diagnosis of PID, including their strengths and limitations. We describe the strengths and limitations of different genetic testing approaches for specific clinical contexts that raise concern for specific PID disorders in light of the challenges reported by the clinical immunologist members of the CIS in a recent membership survey. Finally, we delineate the CIS's recommendations for the use of genetic testing in light of these issues.
遗传检测在许多原发性免疫缺陷疾病的诊断中起着至关重要的作用。本报告的目的是概述临床免疫学家在将遗传检测用于患者护理时经常面临的一些挑战。此外，我们还回顾了用于诊断 PID 的遗传检测类型，包括它们的优缺点。根据临床免疫学家在最近的会员调查中报告的挑战，我们描述了不同遗传检测方法在特定临床情况下的优缺点，这些情况引起了对特定 PID 疾病的关注。最后，我们根据这些问题阐述了 CIS 关于遗传检测使用的建议。
