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Article

Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.

Journal of clinical immunology - 23 Nov 2025

Lee Jong Kwon, Jang Ja-Hyun, Kim Doo Ri, Shin Areum, Park Jong-Ho, Kim Young-Gon, Kim Jong-Won, Kim Yae-Jean, Kang Eun-Suk

Abstract excerpt

INTRODUCTION: Inborn errors of immunity (IEIs) constitute a diverse group of more than 500 disorders resulting from pathogenic variants in over 500 causative genes, with most being monogenic diseases. The use of exome sequencing based on next-generation sequencing technologies has significantly advanced the discovery of causative variants underlying IEIs and has achieved diagnostic yields of up to 40%. Despite...

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Source

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Identifiers

PMID: 41275043
DOI: 10.1007/s10875-025-01947-2
PMCID: PMC12722325

Genes

BTK
SH2D1A
CYBB
DKC1
DNAH11
DNAH5
IL2RG
LRBA
NF1
NFKB2
PIK3CD
PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.PMID 41275043Read ↗

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Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysisSemantic proximity Read ↗

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

Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysisSemantic proximity Read ↗

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