KEGG   VARIANT: 4210v1
Entry
4210v1                      Variant                                
Name
MEFV mutation
Type
Gain of function
Gene
MEFV  MEFV innate immunity regulator, pyrin [KO:K12803]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608107
Network
nt06521  NLR signaling
Disease
H00288  Familial Mediterranean fever
H02590  Acute febrile neutrophilic dermatosis
Reference
PMID:34635190
  Authors
Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N
  Title
Molecular biology of autoinflammatory diseases.
  Journal
Inflamm Regen 41:33 (2021)
DOI:10.1186/s41232-021-00181-8
Reference
PMID:27906774
  Authors
Aksentijevich I, McDermott MF
  Title
Lessons from characterization and treatment of the autoinflammatory syndromes.
  Journal
Curr Opin Rheumatol 29:187-194 (2017)
DOI:10.1097/BOR.0000000000000362
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