(4,5)
Pyrin protein acts as a regulator of the inflammatory response in innate immune system.
(29,30) ATP stimulates purinergic receptor P2X7, which activates NOD-, leucine rich region repeat (LRR)-, and
pyrin domain-containing 3 (NLRP3).
These include the NOD-like receptor family,
pyrin domain containing 3 (NLRP3) inflammasome, autophagy-related 16-like 1 (ATG16L1), immunity-related GTPase family M protein (IRGM), and others, which are summarized in Table 1.
The disease is caused by mutations in the MEFV gene, which encodes a protein called
pyrin.
Pyrin is involved in inflammatory pathways (1).
The gene associated with FMF, MEFV, which encodes pyrin/marenostrin, a protein of 781 amino acids (12,13), belongs to the
pyrin family of genes that play a role in autoinflammatory diseases and inflammatory pathways (14,15).
Majority of patients with FMF have two homozygous or compound heterozygous mutations in the Mediterranean fever (MEFV) gene, which encodes the
pyrin protein (4, 5).
Based on the structural features, sensors can be classified into three types: NOD-like receptors (NLRs), AIM2-like receptors (ALRs), and
pyrin. The sensors have the ability to detect pathogen-associated molecular patterns (PAMPs) [6] or damage-associated molecular patterns (DAMPs) and cytosolic double-stranded DNA [7].