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Immunodeficiency due to CD25 deficiency

ORPHA:169100· ICD-10 D89.8

Definition

A rare genetic primary immunodeficiency due to a defect in adaptive immunity characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Infancy