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immunodeficiency, common variable, 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency, common variable, 7

MONDO:0013862

Also known as:immunodeficiency, common variable, type 7CVID7

Overview

GeneticsAutosomal recessive · CR2 (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Recurrent urinary tract infections, Reduced isohemagglutinin level, Chronic partially decreased circulating IgG1, and Pharyngalgia and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Recurrent urinary tract infections, Recurrent infections, Recurrent respiratory infections

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CR2 encodes complement C3d receptor 2 (1,033 aa). Serves as a receptor for various ligands including complement component CD3d, HNRNPU OR IFNA1. Highest expression in Spleen (72.6 TPM) and Cells EBV-transformed lymphocytes (68.1 TPM).

Immunodeficiency, common variable, 7 is caused by mutations in the CR2 gene on chromosome 1.

The CR2 protein participates in activated RAF1 CR2 mutants, p-S621 RAF1 CR2 mutants, and CR2 RAF1 mutants don't bind YWHAB pathways.

CR2 is classified as a druggable target (Druggable Genome category) with score 13.1.

Diagnosis

Genetic testing for CR2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency, common variable, 7 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 12 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for immunodeficiency, common variable, 7.

83 publications have been identified in PubMed for immunodeficiency, common variable, 7. Research spans Epidemiology / Natural History (42%), Case Report / Case Series (22%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Disease patterns and progression	35	42%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 1:04 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614699

GARD

Genetic and Rare Diseases Info Center

GARD:15836

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

immunodeficiency, common variable, 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

immunodeficiency, common variable, 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications