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Article

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

International journal of molecular sciences - 10 Apr 2026

Pantea Cristina-Loredana, Bataneant Mihaela, Jurcut Ciprian, Cochino Alexis, Ioan Andreea, Munteanu Catalin Vasile, Zimbru Cristian G, Urtila Patricia, Chirita-Emandi Adela

Abstract excerpt

Inborn errors of immunity (IEIs) encompass a heterogeneous group of more than 550 genetic conditions with variable ages of onset. A significant proportion of IEI arises from genetic variants that may not yet be fully elucidated or recorded in existing genomic databases. Molecular diagnoses are achieved in approximately 15-35% of IEI cases, yet in only 9-20% of individuals with predominant antibody deficiencies,...

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Identifiers

PMID: 42074055
DOI: 10.3390/ijms27083415
PMCID: PMC13115587

Genes

BTK
COPA
GATA2
LRBA
TNFRSF13B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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