FREQUENCY OF PATHOGENIC, "RISK FACTOR" AND UNCERTAIN SIGNIFICANCE VARIANTS IN 378 BRAZILIAN PATIENTS WITH SUSPECTED AUTOINFLAMMATORY SYNDROMES

Autoinflammatory syndromes (AIS) are a group of rare monogenic diseases that have recently been described. The syndrome is characterized clinically by recurrent episodes of fever and systemic inflammation affecting multiple organs and systems. Mutations in IL1RN, LPIN2, MEFV, MVK, NLRC4, NLRP12, NLRP3, TNFRSF1A, PSTPIP1 and NOD2 genes cause the called AIS: Deficiency of interleukin-1 receptor antagonist (DIRA), Majeed Syndrome, Familial Mediterranean Fever (FFM), Hyper IgD syndrome (HIDS), cryopyrinopathies (CAPS), Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS), Pyogenic Arthritis, Pyoderma gangrenosum and Acne (PAPA) and BLAU Syndrome, respectively. The aim of the present study was described the frequency of pathogenic variants, variants classified as “risk fator” and variants of uncertain significance (VUS) in IL1RN, LPIN2, MEFV, MVK, NLRC4, NLRP12, NLRP3, TNFRSF1A, PSTPIP1 and NOD2 genes.