DNA double strand break repair defects and impaired immune and neuron cell differentiations in patients with EAOH caused by APTX mutation.

APTX 突变引起的 EAOH 患者 DNA 双链断裂修复缺陷以及免疫和神经元细胞分化受损。

• 批准号: 15K15396
• 负责人: Nonoyama Shgeaki
• 金额: $ 2.33万
• 依托单位: National Defense Medical College
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Challenging Exploratory Research
• 财政年份: 2015
• 资助国家: 日本
• 起止时间: 2015-04-01 至 2017-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-15K15396/
• 关键词: 小児免疫; アレルギー; 膠原病学

项目成果

International Consensus Document (ICON): Common Variable Immunodeficiency Disorders.

• DOI: 10.1016/j.jaip.2015.07.025
• 发表时间: 2016-01
• 期刊: The journal of allergy and clinical immunology. In practice
• 作者: Bonilla FA;Barlan I;Chapel H;Costa-Carvalho BT;Cunningham-Rundles C;de la Morena MT;Espinosa-Rosales FJ;Hammarström L;Nonoyama S;Quinti I;Routes JM;Tang ML;Warnatz K
• 通讯作者: Warnatz K

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

• DOI: 10.1084/jem.20140280
• 发表时间: 2015-09-21
• 期刊: The Journal of experimental medicine
• 作者: Kreins AY;Ciancanelli MJ;Okada S;Kong XF;Ramírez-Alejo N;Kilic SS;El Baghdadi J;Nonoyama S;Mahdaviani SA;Ailal F;Bousfiha A;Mansouri D;Nievas E;Ma CS;Rao G;Bernasconi A;Sun Kuehn H;Niemela J;Stoddard J;Deveau P;Cobat A;El Azbaoui S;Sabri A;Lim CK;Sundin M;Avery DT;Halwani R;Grant AV;Boisson B;Bogunovic D;Itan Y;Moncada-Velez M;Martinez-Barricarte R;Migaud M;Deswarte C;Alsina L;Kotlarz D;Klein C;Muller-Fleckenstein I;Fleckenstein B;Cormier-Daire V;Rose-John S;Picard C;Hammarstrom L;Puel A;Al-Muhsen S;Abel L;Chaussabel D;Rosenzweig SD;Minegishi Y;Tangye SG;Bustamante J;Casanova JL;Boisson-Dupuis S
• 通讯作者: Boisson-Dupuis S

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies.

• DOI: 10.1016/j.jaci.2015.05.036
• 发表时间: 2015-10
• 期刊: The Journal of allergy and clinical immunology
• 作者: Ma CS;Wong N;Rao G;Avery DT;Torpy J;Hambridge T;Bustamante J;Okada S;Stoddard JL;Deenick EK;Pelham SJ;Payne K;Boisson-Dupuis S;Puel A;Kobayashi M;Arkwright PD;Kilic SS;El Baghdadi J;Nonoyama S;Minegishi Y;Mahdaviani SA;Mansouri D;Bousfiha A;Blincoe AK;French MA;Hsu P;Campbell DE;Stormon MO;Wong M;Adelstein S;Smart JM;Fulcher DA;Cook MC;Phan TG;Stepensky P;Boztug K;Kansu A;İkincioğullari A;Baumann U;Beier R;Roscioli T;Ziegler JB;Gray P;Picard C;Grimbacher B;Warnatz K;Holland SM;Casanova JL;Uzel G;Tangye SG
• 通讯作者: Tangye SG

Activation-Induced Cytidine Deaminase Expression in Human B Cell Precursors Is Essential for Central B Cell Tolerance.

• DOI: 10.1016/j.immuni.2015.10.002
• 发表时间: 2015-11-17
• 期刊: Immunity
• 影响因子: 32.4
• 作者: Cantaert T;Schickel JN;Bannock JM;Ng YS;Massad C;Oe T;Wu R;Lavoie A;Walter JE;Notarangelo LD;Al-Herz W;Kilic SS;Ochs HD;Nonoyama S;Durandy A;Meffre E
• 通讯作者: Meffre E

Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene.

造血干细胞移植治疗 WAS 基因突变的 X 连锁血小板减少症。

• DOI: 10.1007/s10875-014-0105-5
• 发表时间: 2015
• 期刊: J Clin Immunol
• 影响因子: 9.1
• 作者: Oshima K;Imai K;Albert M.H;Bittner T.C;Strauss G;Filipovich A.H;Morio T;Kapoor N;Dalal J;Schultz K.R;Casper J.T;Notarangelo L.D;Ochs H.D;Nonoyama S.
• 通讯作者: Nonoyama S.