Susceptibility to respiratory infections associated

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Susceptibility to respiratory infections associated with CD8alpha chain mutation

ORPHA:169085Disease

Also called Familial CD8 deficiency

What it 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.

Key facts

Prevalence
<1 / 1 000 000 (Europe)
Age of onset
Infancy, Neonatal
Inheritance
Autosomal recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

CD8ADisease-causing germline mutation(s)

ICD-10 codes

D84.8filed under a broader ICD-10 category — shared with 39 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

MESH C563824MONDO 0012161OMIM 608957UMLS C1837065

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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