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Article

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

Clinical immunology (Orlando, Fla.) - 1 May 2020

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

Abstract excerpt

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...

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Identifiers

PMID: 32135276
DOI: 10.1016/j.clim.2020.108376

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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