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Susceptibility to viral and mycobacterial infections due to STAT1 deficiency

ORPHA:391311· ICD-10 D84.8

Definition

A rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.

Inheritance
Autosomal recessive