susceptibility to respiratory infections associated with CD8alpha chain mutation
Findings
No curated finding names susceptibility to respiratory infections associated with CD8alpha chain mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0012161), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CD8AHGNC:1706
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: susceptibility to respiratory infections associated with CD8alpha chain mutation
- Also called
- familial CD8 deficiency