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immunodeficiency 51 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 51

MONDO:0013500

Also known as:CANDF5IMD51candidiasis, familial chronic mucocutaneous, autosomal recessive

Overview

GeneticsAutosomal recessive · IL17RA (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: Pustule, Recurrent skin infections, Recurrent cutaneous fungal infections, and Cutaneous abscess and others; and very common findings: Chronic oral candidiasis. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Recurrent skin infections, Recurrent cutaneous fungal 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.

IL17RA encodes interleukin 17 receptor A (866 aa). Receptor for IL17A and IL17F, major effector cytokines of innate and adaptive immune system involved in antimicrobial host defense and maintenance of tissue integrity. Receptor for IL17A. Highest expression in Whole Blood (75.9 TPM) and Spleen (30.1 TPM).

Immunodeficiency 51 is associated with mutations in the IL17RA gene on chromosome 22.

IL17RA is classified as a druggable target (Druggable Genome category) with score 34.8.

Diagnosis

Genetic testing for IL17RA is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 51 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features, 1 very common feature, 3 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 51.

248 publications have been identified in PubMed for immunodeficiency 51. Research spans Epidemiology / Natural History (59%), Review / Meta-Analysis (13%), and Clinical Trial Publication (11%).

Research Type	Count	% of Total
Disease patterns and progression	147	59%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613953

GARD

Genetic and Rare Diseases Info Center

GARD:15732

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 51

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 51

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