Fig. 1.

Schematic representation of innate immune pathways and related pathomechanisms of the described autoinflammatory diseases. Red squares highlight the position of mutations associated with PLCG2-associated antibody deficiency and immune dysregulation (PLCγ2), autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (PLCγ2), cryopyrin-associated periodic syndrome (NLRP3), familial Mediterranean fever (Pyrin), nucleotide oligomerization domain (NOD)-like receptor family CARD domain-containing protein 4-inflammasomopathy (NLRC4), deficiency of interleukin-36 receptor antagonist (IL-36RA), deficiency of interleukin-1 receptor antagonist (IL-1RA), Blau syndrome (NOD2), STING-associated vasculopathy with onset in infancy (STING-complex), and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (Proteasome).