KEGG   VARIANT: 3663v1
Entry
3663v1                      Variant                                
Name
IRF5 mutation
Type
Loss of function
Gene
IRF5  interferon regulatory factor 5 [KO:K09446]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607218
Network
nt06517  TLR signaling
Disease
H00080  Systemic lupus erythematosus
Reference
  Authors
Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, Gonzalez Escribano MF, Pons-Estel B, Petri M, Daly M, Gregersen PK, Martin J, Altshuler D, Behrens TW, Alarcon-Riquelme ME
  Title
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.
  Journal
Nat Genet 38:550-5 (2006)
DOI:10.1038/ng1782
Reference
  Authors
Ban T, Sato GR, Tamura T
  Title
Regulation and role of the transcription factor IRF5 in innate immune responses and systemic lupus erythematosus.
  Journal
Int Immunol 30:529-536 (2018)
DOI:10.1093/intimm/dxy032
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