Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community

Clinical Immunology : the Official Journal of the Clinical Immunology Society
Amos J SimonRaz Somech

Abstract

Primary immunodeficiencies (PIDs) are a heterogeneous group of monogenic inborn errors of immunity. The genetic causes of these diseases can be identified using whole exome sequencing (WES). Here, DNA samples from 106 patients with a clinical suspicion of PID were subjected to WES in order to test the diagnostic yield of this test in a highly consanguineous community. A likely genetic diagnosis was achieved in 70% of patients. Several factors were considered to possibly influence the diagnostic rate of WES among our cohort including early age, presence of consanguinity, family history suggestive of PID, the number of family members who underwent WES and the clinical phenotype of the patient. The highest diagnostic rate was in patients with combined immunodeficiency or with a syndrome. Notably, WES findings altered the clinical management in 39% (41/106) of patients in our cohort. Our findings support the use of WES as an important diagnostic tool in patients with suspected PID, especially in highly consanguineous communities.

Citations

Aug 22, 2020·Expert Review of Clinical Immunology·Ivan K Chinn, Jordan S Orange
Jun 9, 2020·Journal of Clinical Immunology·Tsubasa OkanoTomohiro Morio
Jan 23, 2021·PloS One·Farida AlmarzooqiSuleiman Al-Hammadi
Mar 6, 2021·Clinical Reviews in Allergy & Immunology·Emil E VorsteveldCaspar I van der Made
Oct 8, 2021·Immunologic Research·Sinem FirtinaMuge Sayitoglu

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