Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genomic and clinical characterization of adult CVID patients: results from a single-centre turkish cohort.

Immunologic research - 10 Oct 2025

Yilmaz Tekinhatun Hulya, Firtina Sinem, Sayitoglu Muge, Ar Muhlis Cem

Abstract excerpt

Common Variable Immunodeficiency (CVID) is the most frequently encountered symptomatic primary immunodeficiency in clinical practice, presenting with heterogeneous clinical and genetic features. While traditionally considered polygenic, recent advances in genomic technologies have revealed monogenic causes in a significant subset of patients. This study aimed to investigate the genetic background of adult...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cohort Studies
Share to Common Variable Immunodeficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Predisposition to Disease

Share to Genomics

Share to Transmembrane Activator and CAML Interactor Protein

Share to Turkey

Share to Young Adult

Source

Identifiers

PMID: 41071379
DOI: 10.1007/s12026-025-09699-2

Genes

BTK
CFTR
FCN3
ITGA3
RAG1
SAMD9
TNFRSF13B
TNFRSF1A
IFIH1
NFKB2
PRKDC

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genomic and clinical characterization of adult CVID patients: results from a single-centre turkish cohort.PMID 41071379Read ↗

The Rapidly Expanding Genetic Spectrum of Common Variable Immunodeficiency-Like Disorders.Semantic proximity Read ↗

The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).Semantic proximity Read ↗

Monogenic Common Variable Immunodeficiency (Mo-CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort.Semantic proximity Read ↗

Identification of Novel Genetic Variants in CVID Patients With Autoimmunity, Autoinflammation, or Malignancy.Semantic proximity Read ↗

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.Semantic proximity Read ↗

Monogenic Common Variable Immunodeficiency (Mo-CVID) Score for optimizing the diagnostic metamorphosis in pediatric CVID cohortSemantic proximity Read ↗

A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield: Results from the Perth CVID Cohort Study.Semantic proximity Read ↗

Unveiling the Genetic and Epidemiological Patterns of Primary Immunodeficiency Diseases (PIDs) in a Cohort of Eastern Iranian PatientsSemantic proximity Read ↗

Genetic and epidemiological patterns of primary immunodeficiency diseases in Eastern Iranian patients.Semantic proximity Read ↗

Monozygotic Twins Concordant for Common Variable Immunodeficiency: Strikingly Similar Clinical and Immune Profile Associated With a Polygenic Burden.Semantic proximity Read ↗

Review: Diagnosing Common Variable Immunodeficiency Disorder in the Era of Genome Sequencing.Semantic proximity Read ↗

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.