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susceptibility to respiratory infections associated with CD8alpha chain mutation - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

susceptibility to respiratory infections associated with CD8alpha chain mutation

MONDO:0012161

Also known as:familial CD8 deficiencyCD8 deficiency, familial

Overview

Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.

GeneticsAutosomal recessive · CD8A (chr 2)

ResearchLimited published research (2 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: Absence of CD8-positive T cells, Bronchiectasis, Recurrent bacterial infections, and Recurrent viral infections and 1 more.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Recurrent bacterial infections, Recurrent viral infections, 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.

CD8A encodes CD8 subunit alpha (235 aa). Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. Highest expression in Spleen (103.4 TPM) and Whole Blood (20.4 TPM).

Susceptibility to respiratory infections associated with CD8alpha chain mutation has limited evidence linking it to mutations in the CD8A gene on chromosome 2.

CD8A is classified as a druggable target (Druggable Genome, External Side Of Plasma Membrane, and Kinase categories) with score 26.1.

Diagnosis

Genetic testing for CD8A is available. Testing is considered research-grade for diagnosis.

Prognosis

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 susceptibility to respiratory infections associated with CD8alpha chain mutation.

2 publications have been identified in PubMed for susceptibility to respiratory infections associated with CD8alpha chain mutation. Research spans Case Report / Case Series (50%) and Gene Therapy / Novel Therapeutics (50%).

Recent Publications

Ahn JJ (2025). [PMID: 40744022](https://pubmed.ncbi.nlm.nih.gov/40744022/). *Cell reports. Medicine*. [Gene Therapy / Novel Therapeutics]
Guérin A (2024). [PMID: 38557723](https://pubmed.ncbi.nlm.nih.gov/38557723/). *The Journal of experimental medicine*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 8:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608957

Orphanet

European rare disease database

Orphanet:169085

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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susceptibility to respiratory infections associated with CD8alpha chain mutation

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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