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immunodeficiency 39 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 39

MONDO:0014597

Also known as:IRF7 primary immunodeficiency diseaseimmunodeficiency type 39predisposition to severe viral infection due to IRF7 deficiency

Overview

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene.

GeneticsAutosomal recessive · IRF7 (chr 11)

Clinical Presentation

Features include always present findings: Severe influenza infection. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Immunodeficiency

Explore clinical features

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.

IRF7 encodes interferon regulatory factor 7 (503 aa). Key transcriptional regulator of type I interferon (IFN)-dependent immune responses and plays a critical role in the innate immune response against DNA and RNA viruses.

Immunodeficiency 39 is associated with mutations in the IRF7 gene on chromosome 11.

The IRF7 protein participates in Recruitment of IRF7 to TRAF6 and TRAF6 interacts with IRF7 upon TLR7/8 or 9 activation pathways.

IRF7 is classified as a druggable target (Kinase and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for IRF7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 39 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 39.

105 publications have been identified in PubMed for immunodeficiency 39. Research spans Review / Meta-Analysis (27%), Epidemiology / Natural History (26%), and Basic Science / Preclinical (22%).

Research Type	Count	% of Total
Research summaries	28	27%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 10:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616345

Orphanet

European rare disease database

Orphanet:574918

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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immunodeficiency 39

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

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Questions for Your Care Team

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