Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center.

doi:10.3389/fimmu.2026.1758410

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Article

Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center.

Frontiers in immunology - 1 Jan 2026

Kose Hulya, Akalin Akcahan

Abstract excerpt

Introduction: Inborn errors of immunity (IEI) are particularly prevalent in regions with high rates of consanguinity, yet the genetic profiles in these populations are underreported. This study aims to describe the clinical and molecular characteristics of IEI in a highly consanguineous population and investigate the impact of genetic diagnosis on patient management. Method: This retrospective study included 52...

Topics

Humans
Female
Male
Retrospective Studies
Consanguinity
Child, Preschool
Child
Infant
High-Throughput Nucleotide Sequencing
Primary Immunodeficiency Diseases
Genetic Predisposition to Disease
Severe Combined Immunodeficiency

Source

Open in PubMed Open full text

Identifiers

PMID: 41705238
DOI: 10.3389/fimmu.2026.1758410
PMCID: PMC12907321

Genes

ADA
LIG4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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