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

Parental consanguinity is associated with a severe phenotype in common variable immunodeficiency.

Journal of clinical immunology - 1 Feb 2012

Rivoisy Claire, Gérard Laurence, Boutboul David, Malphettes Marion, Fieschi Claire, Durieu Isabelle, Tron François, Masseau Agathe, Bordigoni Pierre, Alric Laurent, Haroche Julien, Hoarau Cyrille, Bérézné Alice, Carmagnat Maryvonnick, Mouillot Gael, Oksenhendler Eric

Abstract excerpt

The DEFI study has collected clinical data and biological specimens from kindreds with CVID. Patients with demonstrated parental consanguinity (cCVID group) were compared to patients without parental consanguinity (ncCVID). A total of 24 of the 436 patients with CVID had consanguineous parents. Age at first symptoms and age at diagnosis were comparable in the two groups. Some complications were more frequent in...

Read the complete abstract on PubMed

Topics

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

Share to CD4-Positive T-Lymphocytes
Share to CD8-Positive T-Lymphocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Common Variable Immunodeficiency

Share to Consanguinity

Share to France

Share to Genetic Association Studies

Share to Genetic Testing

Share to Young Adult

Source

Identifiers

PMID: 22002594
DOI: 10.1007/s10875-011-9604-9

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

Parental consanguinity is associated with a severe phenotype in common variable immunodeficiency.PMID 22002594Read ↗

A Comparison of Clinical and Immunologic Phenotypes in Familial and Sporadic Forms of Common Variable Immunodeficiency.Semantic proximity Read ↗

Phenotyping and follow up of forty-seven Iranian patients with common variable immunodeficiency.Semantic proximity Read ↗

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

Perspectives on common variable immune deficiency.Semantic proximity Read ↗

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

Genetics and clinical phenotypes in common variable immunodeficiencySemantic proximity Read ↗

Familial patterns of immune dysregulation in CVID: insights from B- and T-cell phenotyping and antibody profiling.Semantic proximity Read ↗

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

The complex genetics of common variable immunodeficiency.Semantic proximity Read ↗

Consanguinity in Primary Immunodeficiency Disorders; the Report from Iranian Primary Immunodeficiency RegistrySemantic proximity Read ↗

Frequency of HLA Class I and Class II Alleles in Patients with CVID from Turkey.Semantic proximity Read ↗

Current Genetic Defects in Common Variable Immune Deficiency Patients on the Geography Between Europe and AsiaSemantic proximity Read ↗

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