KEGG   VARIANT: 1493v1
Entry
1493v1                      Variant                                
Name
CTLA4 mutation
Gene
CTLA4  cytotoxic T-lymphocyte associated protein 4 [KO:K06538]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 123890
Network
nt06537  TCR/BCR signaling
Disease
H00080  Systemic lupus erythematosus
H00081  Hashimoto thyroiditis
H00108  Autoimmune lymphoproliferative syndromes
Reference
  Authors
Jury EC, Flores-Borja F, Kalsi HS, Lazarus M, Isenberg DA, Mauri C, Ehrenstein MR
  Title
Abnormal CTLA-4 function in T cells from patients with systemic lupus erythematosus.
  Journal
Eur J Immunol 40:569-78 (2010)
DOI:10.1002/eji.200939781
Reference
  Authors
Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KM, Smith AN, Di Genova G, Herr MH, Dahlman I, Payne F, Smyth D, Lowe C, Twells RC, Howlett S, Healy B, Nutland S, Rance HE, Everett V, Smink LJ, Lam AC, Cordell HJ, Walker NM, Bordin C, Hulme J, Motzo C, Cucca F, Hess JF, Metzker ML, Rogers J, Gregory S, Allahabadia A, Nithiyananthan R, Tuomilehto-Wolf E, Tuomilehto J, Bingley P, Gillespie KM, Undlien DE, Ronningen KS, Guja C, Ionescu-Tirgoviste C, Savage DA, Maxwell AP, Carson DJ, Patterson CC, Franklyn JA, Clayton DG, Peterson LB, Wicker LS, Todd JA, Gough SC
  Title
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease.
  Journal
Nature 423:506-11 (2003)
DOI:10.1038/nature01621
Reference
  Authors
Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, Frucht DM, Dumitriu B, Scheinberg P, Folio LR, Frein CA, Price S, Koh C, Heller T, Seroogy CM, Huttenlocher A, Rao VK, Su HC, Kleiner D, Notarangelo LD, Rampertaap Y, Olivier KN, McElwee J, Hughes J, Pittaluga S, Oliveira JB, Meffre E, Fleisher TA, Holland SM, Lenardo MJ, Tangye SG, Uzel G
  Title
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.
  Journal
Science 345:1623-1627 (2014)
DOI:10.1126/science.1255904
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