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immunodeficiency, common variable, 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency, common variable, 4

MONDO:0013284

Also known as:immunodeficiency, common variable, type 4CVID4antibody deficiency due to Baffr defect

Overview

GeneticsAutosomal recessive · TNFRSF13C (chr 22)

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: Decreased circulating total IgM, Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine, Combined immunodeficiency, and Recurrent pneumonia and others; and common findings: Recurrent sinusitis. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine, Recurrent pneumonia

Genetic Landscape

TNFRSF13C function has not been fully characterized.

Immunodeficiency, common variable, 4 has limited evidence linking it to mutations in the TNFRSF13C gene on chromosome 22.

Diagnosis

Genetic testing for TNFRSF13C is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for immunodeficiency, common variable, 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 1 common feature.

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, 4.

108 publications have been identified in PubMed for immunodeficiency, common variable, 4. Research spans Epidemiology / Natural History (32%), Case Report / Case Series (22%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Disease patterns and progression	35	32%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613494

GARD

Genetic and Rare Diseases Info Center

GARD:15669

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, 4

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, 4

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