Susceptibility to respiratory infections associated with CD8alpha chain mutation

General Information (adopted from Orphanet):

Synonyms, Signs: Familial CD8 deficiency
Number of Symptoms 10
OrphanetNr: 169085
OMIM Id: 608957
ICD-10: D84.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0005422) Absence of CD8+ T cells 1 / 7739
2
(HPO:0002205) Recurrent respiratory infections 254 / 7739
3
(HPO:0002110) Bronchiectasis 73 / 7739
4
(HPO:0002718) Recurrent bacterial infections 75 / 7739
5
(HPO:0004429) Recurrent viral infections 20 / 7739
6
(OMIM) Isolated absence of CD8+ T cells 1 / 7739
7
(OMIM) Recurrent bacterial respiratory infections 1 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(HPO:0003577) Congenital onset 133 / 7739
10
(OMIM) Bronchiectases 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM De la Calle-Martin et al. (2001) reported a 25-year-old man with a history of recurrent bacterial and viral infections since age 5 years. Immunoglobulin levels and IgG subclasses were normal, but he had total absence of CD8-positive T ...
Molecular genetics OMIM In a patient with CD8-positive T cell deficiency, de la Calle-Martin et al. (2001) identified a homozygous gly90-to-ser mutation in the CD8A gene (G90S; 186910.0001). His asymptomatic sisters with absence of CD8 expression were also homozygous for the ...