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immunodeficiency due to ficolin3 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency due to ficolin3 deficiency

MONDO:0013467

Also known as:Fcn3 deficiencyficolin 3 deficiencyimmunodeficiency due to ficolin 3 deficiency

Overview

GeneticsAutosomal recessive · FCN3 (chr 1)

OnsetNEONATAL

ResearchLimited published research (4 articles)

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: Necrotizing enterocolitis; and common findings: Recurrent Staphylococcus aureus infections. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus 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.

FCN3 encodes ficolin 3 (299 aa). Calcium-dependent lectin, which acts as a pattern recognition receptor that initiates the lectin pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. Highest expression in Lung (1,136 TPM) and Liver (65.8 TPM).

Immunodeficiency due to ficolin3 deficiency is associated with mutations in the FCN3 gene on chromosome 1.

The FCN3 protein participates in Lectin pathway of complement activation pathway.

FCN3 is classified as a druggable target (Druggable Genome, External Side Of Plasma Membrane, and Fibrinogen categories) with score 0.0.

Diagnosis

Genetic testing for FCN3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common 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 due to ficolin3 deficiency.

4 publications have been identified in PubMed for immunodeficiency due to ficolin3 deficiency. Research spans Epidemiology / Natural History (50%), Other (25%), and Review / Meta-Analysis (25%).

Recent Publications

García-Soidán A (2025). [PMID: 40513623](https://pubmed.ncbi.nlm.nih.gov/40513623/). *J Allergy Clin Immunol*. [Other]
Parker Z (2025). [PMID: 40340734](https://pubmed.ncbi.nlm.nih.gov/40340734/). *BMC Res Notes*. [Epidemiology / Natural History]
Yilmaz Tekinhatun H (2025). [PMID: 41071379](https://pubmed.ncbi.nlm.nih.gov/41071379/). *Immunol Res*. [Epidemiology / Natural History]
McMurray JC (2024). [PMID: 39294906](https://pubmed.ncbi.nlm.nih.gov/39294906/). *Allergy Asthma Proc*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613860

Orphanet

European rare disease database

Orphanet:331190

GARD

Genetic and Rare Diseases Info Center

GARD:17513

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 due to ficolin3 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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