日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A New Variant in CTLA4 Highlights the Heterogeneous Phenotype of CTLA4 Haploinsufficiency

CTLA4基因新变异凸显CTLA4单倍体不足的异质性表型

Sormani, Jonathan; Belot, Alexandre; Nove-Josserand, Raphaele; Picard, Capucine; Rosain, Jérémie; Villard, Marine; Viel, Sebastien; Ouachee-Chardin, Marie; Mercier, Emma; Giannoli, Catherine; Moskovtchenko, Philippe; Rabeyrin, Maud; Balme, Brigitte; Durieu, Isabelle; Mathieu, Anne-Laure; Reynaud, Quitterie

Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party

C1q缺陷的造血干细胞移植:欧洲骨髓移植协会先天性代谢缺陷工作组的一项研究

Buso, Helena; Adam, Etai; Arkwright, Peter D; Bhattad, Sagar; Hamidieh, Amir Ali; Behfar, Maryam; Belot, Alexandre; Benezech, Sarah; Chan, Alice Y; Crow, Yanick J; Dvorak, Christopher C; Flinn, Aisling M; Kapoor, Urvi; Lankester, Arjan; Kobayashi, Masao; Matsumura, Risa; Mottaghipisheh, Hadi; Okada, Satoshi; Ouachee, Marie; Parvaneh, Nima; Ramprakash, Stalin; Satwani, Prakash; Sharafian, Samin; Triaille, Clément; Wynn, Robert F; Movahedi, Nasim; Ziaee, Vahid; Williams, Eleri; Slatter, Mary; Gennery, Andrew R

HSCT may lower leukemia risk in ELANE neutropenia: a before-after study from the French Severe Congenital Neutropenia Registry

造血干细胞移植可能降低ELANE中性粒细胞减少症患者的白血病风险:一项来自法国严重先天性中性粒细胞减少症登记处的前后对照研究

Rotulo, Gioacchino Andrea; Beaupain, Blandine; Rialland, Fanny; Paillard, Catherine; Nachit, Ouahiba; Galambrun, Claire; Gandemer, Virginie; Bertrand, Yves; Neven, Benedicte; Dore, Eric; Moshous, Despina; Filhon, Bruno; Aladjdi, Nathalie; Sicre de Fontbrune, Flore; de la Tour, Regis Peffault; Ouachee, Marie; Bellanne-Chantelot, Christine; Dalle, Jean-Hugues; Donadieu, Jean

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

不同治疗策略下IPEX综合征患者的长期随访:一项国际多中心回顾性研究

Barzaghi, Federica; Amaya Hernandez, Laura Cristina; Neven, Benedicte; Ricci, Silvia; Kucuk, Zeynep Yesim; Bleesing, Jack J; Nademi, Zohreh; Slatter, Mary Anne; Ulloa, Erlinda Rose; Shcherbina, Anna; Roppelt, Anna; Worth, Austen; Silva, Juliana; Aiuti, Alessandro; Murguia-Favela, Luis; Speckmann, Carsten; Carneiro-Sampaio, Magda; Fernandes, Juliana Folloni; Baris, Safa; Ozen, Ahmet; Karakoc-Aydiner, Elif; Kiykim, Ayca; Schulz, Ansgar; Steinmann, Sandra; Notarangelo, Lucia Dora; Gambineri, Eleonora; Lionetti, Paolo; Shearer, William Thomas; Forbes, Lisa R; Martinez, Caridad; Moshous, Despina; Blanche, Stephane; Fisher, Alain; Ruemmele, Frank M; Tissandier, Come; Ouachee-Chardin, Marie; Rieux-Laucat, Frédéric; Cavazzana, Marina; Qasim, Waseem; Lucarelli, Barbarella; Albert, Michael H; Kobayashi, Ichiro; Alonso, Laura; Diaz De Heredia, Cristina; Kanegane, Hirokazu; Lawitschka, Anita; Seo, Jong Jin; Gonzalez-Vicent, Marta; Diaz, Miguel Angel; Goyal, Rakesh Kumar; Sauer, Martin G; Yesilipek, Akif; Kim, Minsoo; Yilmaz-Demirdag, Yesim; Bhatia, Monica; Khlevner, Julie; Richmond Padilla, Erick J; Martino, Silvana; Montin, Davide; Neth, Olaf; Molinos-Quintana, Agueda; Valverde-Fernandez, Justo; Broides, Arnon; Pinsk, Vered; Ballauf, Antje; Haerynck, Filomeen; Bordon, Victoria; Dhooge, Catharina; Garcia-Lloret, Maria Laura; Bredius, Robbert G; Kałwak, Krzysztof; Haddad, Elie; Seidel, Markus Gerhard; Duckers, Gregor; Pai, Sung-Yun; Dvorak, Christopher C; Ehl, Stephan; Locatelli, Franco; Goldman, Frederick; Gennery, Andrew Richard; Cowan, Mort J; Roncarolo, Maria-Grazia; Bacchetta, Rosa

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

一项针对79名法国和比利时患者的调查显示,GATA2缺乏症的自然病程

Donadieu, Jean; Lamant, Marie; Fieschi, Claire; de Fontbrune, Flore Sicre; Caye, Aurélie; Ouachee, Marie; Beaupain, Blandine; Bustamante, Jacinta; Poirel, Hélène A; Isidor, Bertrand; Van Den Neste, Eric; Neel, Antoine; Nimubona, Stanislas; Toutain, Fabienne; Barlogis, Vincent; Schleinitz, Nicolas; Leblanc, Thierry; Rohrlich, Pierre; Suarez, Felipe; Ranta, Dana; Chahla, Wadih Abou; Bruno, Bénédicte; Terriou, Louis; Francois, Sylvie; Lioure, Bruno; Ahle, Guido; Bachelerie, Françoise; Preudhomme, Claude; Delabesse, Eric; Cave, Hélène; Bellanné-Chantelot, Christine; Pasquet, Marlène

Early mixed chimerism-based preemptive immunotherapy in children undergoing allogeneic hematopoietic stem cell transplantation for acute leukemia

对接受异基因造血干细胞移植治疗急性白血病的儿童进行早期基于混合嵌合体的预防性免疫治疗

Horn, Biljana; Wahlstrom, Justin T; Melton, Alexis; Liou, Angela; Ouachee-Chardin, Marie; Sunkersett, Gauri; Willert, Jennifer; Hwang, Jimmy; Expose-Spencer, Jueleah; Cowan, Mort C; Facchino, Janelle; Dvorak, Christopher C