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immunodeficiency, common variable, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency, common variable, 2

MONDO:0009413

Also known as:immunodeficiency, common variable, type 2CVID2antibody deficiency due to TACI defect

Overview

GeneticsAutosomal recessive, Autosomal dominant · TNFRSF13B (chr 17)

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 bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Combined immunodeficiency, and Recurrent sinusitis and others; and very common findings: Decreased circulating IgG concentration. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	5	Autoimmunity, Recurrent bacterial infections, Enlarged spleen (splenomegaly)

Genetic Landscape

TNFRSF13B function has not been fully characterized.

Immunodeficiency, common variable, 2 is caused by mutations in the TNFRSF13B gene on chromosome 17.

Diagnosis

Genetic testing for TNFRSF13B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency, common variable, 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 1 very 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, 2.

145 publications have been identified in PubMed for immunodeficiency, common variable, 2. Research spans Epidemiology / Natural History (27%), Case Report / Case Series (21%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Disease patterns and progression	39	27%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 7:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:240500

GARD

Genetic and Rare Diseases Info Center

GARD:15184

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, 2

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, 2

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