type 1 interferonopathy of childhood

Findings

No curated finding names type 1 interferonopathy of childhood yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• autoinflammatory syndrome of childhood
• type 1 interferonopathy

Narrower terms (12)

• Aicardi-Goutieres syndrome
• autoimmune interstitial lung disease-arthritis syndrome
• deficiency of adenosine deaminase 2
• familial chilblain lupus
• proteosome-associated autoinflammatory syndrome
• pseudo-TORCH syndrome 2
• retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
• Singleton-Merten dysplasia
• Spondyloenchondrodysplasia with immune dysregulation
• STING-associated vasculopathy with onset in infancy
• trichohepatoenteric syndrome
• X-linked reticulate pigmentary disorder