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

Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders.

Clinical reviews in allergy & immunology - 1 Oct 2021

Ameratunga Rohan, Allan Caroline, Lehnert Klaus, Woon See-Tarn

Abstract excerpt

Common variable immunodeficiency disorders (CVIDs) are rare primary immunodeficiency diseases (PIDs) mostly associated with late onset antibody failure leading to immune system failure. Patients with CVID are predisposed to disabling complications such as bronchiectasis and systemic autoimmunity. In recent years a large number of genetic defects have become associated with these disorders. Patients with a...

Read the complete abstract on PubMed

Topics

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

Share to Common Variable Immunodeficiency
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genetics, Medical

Share to High-Throughput Nucleotide Sequencing

Share to Phenotype

Source

Identifiers

PMID: 33818703
DOI: 10.1007/s12016-020-08828-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders.PMID 33818703Read ↗

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

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

Perspective: Evolving Concepts in the Diagnosis and Understanding of Common Variable Immunodeficiency Disorders (CVID).Semantic proximity Read ↗

Genetics in a Danish Common Variable Immunodeficiency Cohort.Semantic proximity Read ↗

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

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

[Genetic basis of common variable immunodeficiency: from common to variable].Semantic 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 ↗

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

Common variable immunodeficiency: an update on etiology and management.Semantic proximity Read ↗

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

Common Variable Immunodeficiency: More Pathways than Roads to RomeSemantic proximity Read ↗

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