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immunodeficiency 25 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 25

MONDO:0012426

Also known as:CD247 severe combined immunodeficiency (disease)CD3zeta deficiencyimmunodeficiency type 25

Overview

Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.

GeneticsAutosomal recessive · CD247 (chr 1)

OnsetINFANTILE, CHILDHOOD

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 total T cell count, Increased total eosinophil count, Recurrent candida infections, and Increased circulating IgE concentration and others; and common findings: Antimitochondrial antibody positivity, Anti-smooth muscle antibody positivity, and Autoimmune hemolytic anemia. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	6

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.

CD247 encodes CD247 molecule (164 aa). Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. Highest expression in Whole Blood (33.5 TPM) and Spleen (31.7 TPM).

Immunodeficiency 25 is caused by mutations in the CD247 gene on chromosome 1.

CD247 is classified as a druggable target (Druggable Genome, Enzyme, and Kinase categories) with score 2.5.

Diagnosis

Genetic testing for CD247 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 25 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 13 always present features, 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 25.

285 publications have been identified in PubMed for immunodeficiency 25. Kisho has analyzed 85 by research type. Research spans Epidemiology / Natural History (38%), Review / Meta-Analysis (24%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Disease patterns and progression	32	38%

Data assembled from 6 of 12 sources · Last updated Sep 17, 2026, 9:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610163

GARD

Genetic and Rare Diseases Info Center

GARD:18294

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 25

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 25

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