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immunodeficiency, common variable, 15 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency, common variable, 15

MONDO:0958013

Overview

GeneticsAutosomal dominant · SEC61A1 (chr 3)

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 specific antibody response to polysaccharide vaccine and Recurrent lower respiratory tract infections; and very common findings: Decreased specific antibody response to protein-conjugated polysaccharide vaccine and Decreased circulating IgG concentration. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	5	Decreased specific antibody response to protein-conjugated polysaccharide vaccine, Decreased specific antibody response to polysaccharide vaccine, Partial absence of specific antibody response to tetanus vaccine

Genetic Landscape

SEC61A1 function has not been fully characterized.

Immunodeficiency, common variable, 15 is associated with mutations in the SEC61A1 gene on chromosome 3.

Diagnosis

Genetic testing for SEC61A1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency, common variable, 15 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 2 very common features, 4 common 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, 15.

59 publications have been identified in PubMed for immunodeficiency, common variable, 15. Research spans Epidemiology / Natural History (25%), Basic Science / Preclinical (22%), and Case Report / Case Series (19%).

Research Type	Count	% of Total
Disease patterns and progression	15	25%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620670

Questions for Your Care Team

→Should I pursue genetic testing for SEC61A1, and what would the results mean for my family?
→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, 15

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

immunodeficiency, common variable, 15

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications