Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra.
Kaipiainen-Seppänen
O
O
Punnonen
K
K
van Gijn
M E
ME
Mononen
T
T
D018501:Antirheumatic Agents / Q000627:therapeutic use; D001327:Autoimmune Diseases / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D016207:Cytokines / Q000097:blood*; D005091:Exons; D005387:Finland; D005799:Genes, Dominant; D006801:Humans; D007249:Inflammation / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D009154:Mutation; D020125:Mutation, Missense; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D020641:Polymorphism, Single Nucleotide
D018501:Antirheumatic Agents; D002352:Carrier Proteins; D016207:Cytokines; D053590:Interleukin 1 Receptor Antagonist Protein; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human