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
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ICD-10: |
D84.8 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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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:
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(HPO:0005422) | Absence of CD8+ T cells | 1 / 7739 | ||||
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(HPO:0002205) | Recurrent respiratory infections | 254 / 7739 | ||||
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(HPO:0002110) | Bronchiectasis | 73 / 7739 | ||||
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(HPO:0002718) | Recurrent bacterial infections | 75 / 7739 | ||||
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(HPO:0004429) | Recurrent viral infections | 20 / 7739 | ||||
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(OMIM) | Isolated absence of CD8+ T cells | 1 / 7739 | ||||
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(OMIM) | Recurrent bacterial respiratory infections | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 | ||||
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(OMIM) | Bronchiectases | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |