TNFRSF1A

Genetic findings for TNFRSF1A in Adult-Onset Still's Disease

Variants (1)

Variant	Type	Frequency	Significance
Rare variants associated with AOSD	germline	Rare; particularly relevant in patients with severe/refractory disease courses	TNFRSF1A is the causative gene for TRAPS (TNF receptor-associated periodic syndrome); its association with AOSD further supports genetic overlap with monogenic autoinflammatory diseases

Clinical implications

Rare variants associated with AOSD

Patients with TNFRSF1A variants may have more challenging disease courses and higher likelihood of requiring biologic therapy

Also found in: TRAPS (Causative (autosomal dominant)), Other periodic fevers (Variable)

Related hypotheses

Genetic susceptibility via HLA polymorphisms and autoinflammatory gene variants predisposes to AOSD

emerging·12 studies

Sources (1)

DetailsSigrist S et al. (2018) Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes · RheumatologyDOI ↗