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immunodeficiency 19 (CD3D) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 19

MONDO:0014280

Also known as:CD3DCD3D severe combined immunodeficiency (disease)CD3delta deficiency

Overview

Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.

GeneticsAutosomal recessive · CD3D (chr 11)

ResearchLimited published research (1 article)

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, Severe viral infection, and Severe combined immunodeficiency; and common findings: Chronic diarrhea. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Severe combined immunodeficiency, 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.

CD3D encodes CD3 delta subunit of T-cell receptor complex (171 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 Spleen (51.4 TPM) and Whole Blood (30.0 TPM).

Immunodeficiency 19 is caused by mutations in the CD3D gene on chromosome 11.

CD3D is classified as a druggable target (Druggable Genome, External Side Of Plasma Membrane, and Kinase categories) with score 1.6.

Diagnosis

Genetic testing for CD3D is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 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 19.

1 publication has been identified in PubMed for immunodeficiency 19. Research spans Epidemiology / Natural History (100%).

Recent Publications

Al Ghamdi A (2024). [PMID: 39062699](https://pubmed.ncbi.nlm.nih.gov/39062699/). *Genes (Basel)*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 17, 2026, 7:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615617

GARD

Genetic and Rare Diseases Info Center

GARD:18296

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 19

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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