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immunodeficiency 18 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 18

MONDO:0014278

Also known as:CD3-Epsilon deficiencyIMD18immunodeficiency 18, SCID variant

Overview

Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.

GeneticsAutosomal recessive · CD3E (chr 11)

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 CD3+ T cell proportion, Decreased circulating total IgA, Abnormal T cell proliferation, and Decreased CD4+ T cell proportion and others; and common findings: Decreased circulating total IgM. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Recurrent pneumonia, Recurrent respiratory 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.

CD3E encodes CD3 epsilon subunit of T-cell receptor complex (207 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 (103.4 TPM) and Spleen (94.8 TPM).

Immunodeficiency 18 is caused by mutations in the CD3E gene on chromosome 11.

CD3E is classified as a druggable target (Druggable Genome, External Side Of Plasma Membrane, and Kinase categories) with score 1.5.

Diagnosis

Genetic testing for CD3E is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 18 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features, 1 common feature.

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 18.

209 publications have been identified in PubMed for immunodeficiency 18. Kisho has analyzed 116 by research type. Research spans Epidemiology / Natural History (30%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Disease patterns and progression	35	30%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 7:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615615

GARD

Genetic and Rare Diseases Info Center

GARD:18295

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 18

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 18

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