Familial Mediterranean fever (FMF) | MEFV ” Protein called pyrin (marenostrin)” |
Hyperimmunoglobulinemia D with recurrent fever (HIDS). This is now (along with mevalonic aciduria) defined as a mevalonate kinase deficiency | MVK “Methyl vinyl ketone (MVK, butenone)” |
TNF receptor associated periodic syndrome (TRAPS) | TNFRSF1A “umor necrosis factor receptor 1 (TNFR1), tumor necrosis factor receptor superfamily member 1A (TNFRSF1A) veya CD120a“ |
CAPS”Cryopyrin-associated periodic syndrome“: Muckle–Wells syndrome (urticaria deafness amyloidosis) | NLRP3 “NLR family pyrin domain containing 3“ |
CAPS: Familial cold urticaria | NLRP3 “NLR family pyrin domain containing 3“ |
CAPS: Neonatal onset multisystem inflammatory disease (NOMID) | NLRP3 “NLR family pyrin domain containing 3“ |
Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome) | ? |
Blau syndrome “Arthrocutaneouveal granulomatosis” | NOD2 “Nucleotide-binding oligomerization domain-containing protein 2 (NOD2), caspase recruitment domain-containing protein 15 (CARD15) yada inflammatory bowel disease protein 1 (IBD1)” |
Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) | PSTPIP1 “Proline-serine-threonine phosphatase-interacting protein 1“ |
Deficiency of the interleukin-1–receptor antagonist (DIRA) | IL1RN “Interleukin-1 receptor antagonist“ |
Yao syndrome (YAOS) | NOD2 “Nucleotide-binding oligomerization domain-containing protein 2 (NOD2), caspase recruitment domain-containing protein 15 (CARD15) yada inflammatory bowel disease protein 1 (IBD1)” |
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache syndrome (ROSAH syndrome) | ALPK1 “Alpha-protein kinase 1“ |