Autosomal recessive hereditary disorder
Primary immune deficiency disorder
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Susceptibility to viral and mycobacterial infection (disorder)
Susceptibility to viral and mycobacterial infection
STAT1 deficiency
Signal transducer and activator of transcription 1 deficiency
A rare genetic primary immunodeficiency due to a defect in innate immunity disorder with characteristics of 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. Caused by homozygous mutation in the STAT1 gene on chromosome 2q32.
susceptibiliteit voor virale en mycobacteriële infecties
gevoeligheid voor virale en mycobacteriële infecties
STAT1-deficiëntie
vatbaarheid voor virale en mycobacteriële infecties
Id778045003
StatusPrimitive
Pathological processAbnormal immune process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD84.8
RuleTRUE
AdviceALWAYS D84.8
CorrelationSNOMED CT source code to target map code correlation not specified