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

Amos J. Simon, Adi Cohen Golan, Atar Lev, Tali Stauber, Ortal Barel, Ido Somekh, Christoph Klein, Omar AbuZaitun, Eran Eyal, Nitzan Kol, Ekrem Unal, Ninette Amariglio, Gideon Rechavi, Raz Somech

Research output: Contribution to journalArticlepeer-review

26 Scopus citations

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.

Original languageEnglish
Article number108376
JournalClinical Immunology
Volume214
DOIs
StatePublished - May 2020

Bibliographical note

Publisher Copyright:
© 2020 Elsevier Inc.

Funding

We thank the patients and their families for participating in this study. We thank the Jeffrey Modell Foundation, Israel Ministry of Health, the Israeli Science Foundation and the Care-for-Rare Foundation for their support. This work was performed in partial fulfillment of the M.D. thesis requirements of the Sackler Faculty of Medicine, Tel Aviv University (A.C.G.). We thank the patients and their families for participating in this study. We thank the Jeffrey Modell Foundation , Israel Ministry of Health , the Israeli Science Foundation and the Care-for-Rare Foundation for their support. This work was performed in partial fulfillment of the M.D. thesis requirements of the Sackler Faculty of Medicine, Tel Aviv University (A.C.G.).

FundersFunder number
Israel Ministry of Health
Israeli Science Foundation
Jeffrey Modell Foundation
Care-for-Rare Foundation
Israel Science Foundation
Ministry of Health, State of Israel
Sackler Faculty of Medicine, Tel-Aviv University

    Keywords

    • Autoimmunity
    • Bone marrow transplantation
    • Genetics
    • IVIG
    • Infections

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