Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations

genes. For about half of the cohort the onset of the disease was noted in childhood. WGS as a first-line diagnostic strategy in a cohort of adults with IEI yielded a low diagnostic rate. There were significant delays in genetic diagnosis, as half of the cohort experienced childhood-onset symptoms. Results suggest that adult IEI diagnosis remains challenging, necessitating functional studies and longitudinal re-evaluation of genomic data.

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Publication Details

Journal
International Journal of Molecular Sciences
Published
2026-04-10
DOI
https://doi.org/10.3390/ijms27083415
Primary Topic
Immunodeficiency and Autoimmune Disorders
Type
article
Field-Weighted Citation Impact
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article

Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations

Mihaela Bătăneanţ, Andreea Ioan, Ciprian Jurcuț, Cristian G. Zimbru et al.
International Journal of Molecular Sciences
Immunodeficiency and Autoimmune Disorders
article

Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations

Mihaela Bătăneanţ, Andreea Ioan, Ciprian Jurcuț, Cristian G. Zimbru, Patricia Urtila, Cătălin Vasile Munteanu, Adela Chirita-Emandi, Cristina-Loredana Pantea, Alexis Cochino
article en

Abstract

genes. For about half of the cohort the onset of the disease was noted in childhood. WGS as a first-line diagnostic strategy in a cohort of adults with IEI yielded a low diagnostic rate. There were significant delays in genetic diagnosis, as half of the cohort experienced childhood-onset symptoms. Results suggest that adult IEI diagnosis remains challenging, necessitating functional studies and longitudinal re-evaluation of genomic data.

International Journal of Molecular SciencesVol. 27(8)
Shriners Hospitals for Children - Erie (US), Carol Davila University of Medicine and Pharmacy (RO), Polytechnic University of Timişoara (RO), Victor Babeș University of Medicine and Pharmacy Timișoara (RO), Emergency University (US), Institutul National pentru Sanatatea Mamei si Copilului "Alessandrescu-Rusescu" (RO), Romanian Academy (RO)
Openalex Percentile: Top 29%
Immunodeficiency and Autoimmune Disorders
DOIOpen Access PDFOpenAlex
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Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations — Mihaela Bătăneanţ, Andreea Ioan, et al. · International Journal of Molecular Sciences (2026) | TGRS Research Map | TGRS