Immunological analysis of Blau syndrome, a unique autoinflammatory state.

Abstract excerpt

Autoinflammation typically arises from mutations affecting molecules such as inflammasome backbones that give rise to gain-of-function (GOF) pro-inflammatory activity requiring little or no normal ligand stimulation. This has been assumed to be the case in the auto-inflammation known as Blau syndrome wherein mutations usually present in the nucleotide oligomerization domain of the CARD15 gene encoding NOD2 result...

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