Art

J-GLOBAL ID：201502269886587145   Reference number：15A0094600

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

免疫:CTLA4変異を持つヒトにおける常染色体優性免疫調節異常症候群

Author (40)： SCHUBERT Desiree (Univ. Medical Center Freiburg, Freiburg, DEU) ,  BODE Claudia (Univ. Medical Center Freiburg, Freiburg, DEU) ,  BULASHEVSKA Alla (Univ. Medical Center Freiburg, Freiburg, DEU) ,  UNGER Susanne (Univ. Medical Center Freiburg, Freiburg, DEU) ,  FREDE Natalie (Univ. Medical Center Freiburg, Freiburg, DEU) ,  SPECKMANN Carsten (Univ. Medical Center Freiburg, Freiburg, DEU) ,  EHL Stephan (Univ. Medical Center Freiburg, Freiburg, DEU) ,  RENSING-EHL Anne (Univ. Medical Center Freiburg, Freiburg, DEU) ,  WARNATZ Klaus (Univ. Medical Center Freiburg, Freiburg, DEU) ,  RAKHMANOV Mirzokhid (Univ. Medical Center Freiburg, Freiburg, DEU) ,  CATHOMEN Toni (Univ. Medical Center Freiburg, Freiburg, DEU) ,  SALZER Ulrich (Univ. Medical Center Freiburg, Freiburg, DEU) ,  GRIMBACHER Bodo (Univ. Medical Center Freiburg, Freiburg, DEU) ,  SCHUBERT Desiree (Freiburg Univ., Freiburg, DEU) ,  KENEFECK Rupert (Univ. Coll. London Inst. of Immunity and Transplantation, London, GBR) ,  HOU Tie Zheng (Univ. Coll. London Inst. of Immunity and Transplantation, London, GBR) ,  KENNEDY Alan (Univ. Coll. London Inst. of Immunity and Transplantation, London, GBR) ,  SENEVIRATNE Suranjith (Univ. Coll. London Inst. of Immunity and Transplantation, London, GBR) ,  WALKER Lucy S K (Univ. Coll. London Inst. of Immunity and Transplantation, London, GBR) ,  SANSOM David M (Univ. Coll. London Inst. of Immunity and Transplantation, London, GBR) ,  GRIMBACHER Bodo (Univ. Coll. London Inst. of Immunity and Transplantation, London, GBR) ,  WING James B (Osaka Univ., Osaka, JPN) ,  SAKAGUCHI Shimon (Osaka Univ., Osaka, JPN) ,  PETERSEN Britt-Sabina (Christian-Albrechts-Univ. Kiel, Kiel, DEU) ,  FRANKE Andre (Christian-Albrechts-Univ. Kiel, Kiel, DEU) ,  SCHAEFFER Alejandro A (National Inst. of Health, Maryland, USA) ,  GRUENING Bjoern A (Univ. Freiburg, Freiburg, DEU) ,  BACKOFEN Rolf (Univ. Freiburg, Freiburg, DEU) ,  BAUMANN Ulrich (Hannover Medical School, Hannover, DEU) ,  WITTE Torsten (Hannover Medical School, Hannover, DEU) ,  SCHMIDT Reinhold E (Hannover Medical School, Hannover, DEU) ,  DUECKERS Gregor (HELIOS Children’s Hospital, Krefeld, DEU) ,  NIEHUES Tim (HELIOS Children’s Hospital, Krefeld, DEU) ,  KANARIOU Maria (“Aghia Sophia” Children’s Hospital, Athens, GRC) ,  THIMME Robert (Univ. Medical Center Freiburg, Freiburg, DEU) ,  HASSELBLATT Peter (Univ. Medical Center Freiburg, Freiburg, DEU) ,  EMMERICH Florian (Univ. Medical Center Freiburg, Freiburg, DEU) ,  FISCH Paul (Univ. Medical Center Freiburg, Freiburg, DEU) ,  SEIDL Maximilian (Univ. Medical Center Freiburg, Freiburg, DEU) ,  MAY Annette (Univ. Medical Center Freiburg, Freiburg, DEU)
Material： Nature Medicine  (Nat Med)
Volume： 20  Issue： 12  Page： 1410-1416  Publication year： Dec. 2014 
JST Material Number： W0636A  ISSN： 1078-8956  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *gene ,  *genetic variation ,  CD antigen ,  membrane protein ,  heredity ,  *immunologic disease ,  *immunological reaction ,  mouse(animal) ,  autoimmunity ,  blood protein disorder ,  *immunologic deficiency syndrome ,  pedigree ,  nucleotide sequence ,  *nonsense mutation ,  RNA splicing ,  transmembrane protein ,  gene dosage effect ,  binding and coupling
Semi thesaurus term： *CTLA-4 gene ,  CTLA4 ,  autosomal dominant inheritance ,  immune control ,  Dysgammaglobulinemia ,  heterozygosity ,  splice site ,  Antigens, CD80 ,  Haploinsufficiency ,  ligand binding

JST classification (3)： Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J) ,  Biological function  (EB03040U)

Terms in the title (8)： 免疫 ,  CTLA4 ,  変異 ,  ヒト ,  常染色体 ,  優性 ,  免疫調節 ,  症候群