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

Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study

造血干细胞移植治疗嘌呤核苷磷酸化酶缺乏症:一项EBMT-IEWP回顾性研究

Herrmann, Uli S; Felber, Matthias; Worth, Austen; Haskologlu, Sule; Dogu, Figen; Lewis, Victor A; Strahm, Brigitte; Groll, Andreas; Gennery, Andrew R; Hauck, Fabian; Wynn, Robert; Coussons, Mary; Meyts, Isabelle; Lindemans, Caroline; Bordon, Victoria; Bredius, Robbert G M; Kühl, Jörn-Sven; Völler, Mirjam; Zirngibl, Felix; Zaidman, Irina; Laberko, Alexandra; Zeilhofer, Ulrike; Hauri-Hohl, Mathias; Lankester, Arjan; Ikinciogullari, Aydan; Guilcher, Gregory M T; Hackenberg, Annette; Yeşilipek, Akif; Davies, Graham; Rao, Kanchan; Hershfield, Michael Steven; Parikh, Suhag H; Gilbert, Patrick; Bettoni da Cunha Riehm, Claudia; Albert, Michael H; Schulz, Ansgar S; Hönig, Manfred; Neven, Bénédicte; Güngör, Tayfun

Human adenosine deaminase type 2 deficiency enhances NK cell activation but impairs maturation and function

人类腺苷脱氨酶2型缺乏症可增强NK细胞活化,但会损害其成熟和功能。

Beliën, Jarne; De Visscher, Amber; Pillay, Bethany; Wouters, Marjon; Kienapfel, Verena; Bernaerts, Eline; Mitera, Tania; Berghmans, Nele; Dubois, Bénédicte; Moens, Leen; Matthys, Patrick; Meyts, Isabelle

Correction: Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers

更正:显性负性ADA2突变会导致杂合子携带者出现ADA2缺乏症。

Wouters, Marjon; Ehlers, Lisa; Van Eynde, Wout; Kars, Meltem Ece; Delafontaine, Selket; Kienapfel, Verena; Dzhus, Mariia; Schrijvers, Rik; De Haes, Petra; Struyf, Sofie; Bucciol, Giorgia; Itan, Yuval; Bolze, Alexandre; Voet, Arnout; Hombrouck, Anneleen; Moens, Leen; Ogunjimi, Benson; Meyts, Isabelle

ADA2-deficient cells exhibit increased levels of cell death and metabolic disturbances.

ADA2 缺陷细胞表现出细胞死亡水平升高和代谢紊乱。

Ehlers Lisa, Wouters Marjon, Pillay Bethany, Delafontaine Selket, Bucciol Giorgia, Baggio Marco, Dzhus Mariia, Hombrouck Anneleen, Damerau Alexandra, De Somer Lien, Schrijvers Rik, Vanderschueren Steven, Jacquemyn Maarten, Kallinich Tilmann, Daelemans Dirk, Ghesquière Bart, Agostinis Patrizia, Moens Leen, Meyts Isabelle

Correction to: An international survey of allogeneic hematopoietic cell transplantation for X-linked agammaglobulinemia

更正:一项关于X连锁无丙种球蛋白血症异基因造血干细胞移植的国际调查

Nishimura, Akira; Uppuluri, Ramya; Raj, Revathi; Swaminathan, Venkateswaran Vellaichamy; Cheng, Yifei; Abu-Arja, Rolla F; Fu, Bin; Laberko, Alexandra; Albert, Michael H; Hauck, Fabian; Bucciol, Giorgia; Bigley, Venetia; Elcombe, Suzanne; Kharya, Gaurav; Pronk, Cornelis Jan H; Wehr, Claudia; Neven, Bénédicte; Warnatz, Klaus; Meyts, Isabelle; Morio, Tomohiro; Gennery, Andrew R; Kanegane, Hirokazu

Homozygosity for rare or common hypomorphic IL23R variants confers a predisposition to tuberculosis in humans

人类携带罕见或常见的低活性IL23R变异纯合子会增加患结核病的易感性。

Calderón, Diana Olguín; Kilpatrick, Laura E; Conil, Clément; Philippot, Quentin; Ogishi, Masato; Vellutini, Joseph; Han, Ji Eun; Keating, Narelle; Li, Hailun; Rao, Geetha; Bohlen, Jonathan; Lay, Charles S; Platt, Simon; Kerner, Gaspard; Feredj, Elsa; Peel, Jessica N; Momenilandi, Mana; Seeleuthner, Yoann; Lainé, Candice; Soudée, Camille; Leloup, Claire; Debuisson, Cecile; Lanternier, Fanny; Bitoun, Samuel; Pavy, Stephan; Mariette, Xavier; Rafik, Aniss; Skhoun, Hanaa; El Ouazzani, Hanane; Abderahmani-Ghorfi, Ismail; El-Bagdadi, Jamila; Baena, Andrés; Tejada-Giraldo, Manuela; Barrera, Luis Fernando; Arias, Andrés Augusto; Fabio, Giovanna; Carrabba, Maria; Emiroglu, Melike; Bezrodnik, Liliana; El Zein, Loubna; Hammoud, Hassan; Gregersen, Peter K; Terrier, Benjamin; Lopez, Rafael Leon; Touzet, Marion; Pestre, Vincent; Pasquet, Marlène; Rogge, Lars; Pasquet, Marlène; Fayon, Michael; Galode, François; Jeziorski, Eric; Duffy, Daragh; Quintana-Murci, Lluis; Patin, Etienne; Cunningham-Rundles, Charlotte; Meyts, Isabelle; Zhang, Shen-Ying; Zhang, Qian; Jouanguy, Emmanuelle; Boisson, Bertrand; Rosain, Jérémie; Béziat, Vivien; Shahrooei, Mohammad; Mahdaviani, Seyed Alireza; Rezaei, Nima; Parvaneh, Nima; Chavoshzadeh, Zahra; Yazdanpanah, Niloufar; Aladjidi, Nathalie; Noguera-Julian, Antoni; Esteve-Solé, Ana; Manrique, Laia Alsina; Mansouri, Davood; Keles, Sevgi; Ortakoylu, Mediha Gonenc; Aygun, Deniz; Yucel, Esra; Kiykim, Ayca; Camcioglu, Yildiz; Ma, Cindy S; Tangye, Stuart G; Zhang, Peng; Abel, Laurent; Craggs, Peter D; Casanova, Jean-Laurent; Cobat, Aurélie; Puel, Anne; Bustamante, Jacinta; Hill, Stephen J; Boisson-Dupuis, Stéphanie

A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations

与常染色体隐性COPZ1基因突变相关的新型严重先天性中性粒细胞减少症

Borbaran Bravo, Natalia; Deordieva, Ekaterina; Doll, Larissa; ElGamacy, Mohammad; Dannenmann, Benjamin; Azevedo, Joana; Iannuzzo, Alberto; Delafontaine, Selket; Lehners, Moritz; Kolodziej, Marius; Hernandez Alvarez, Birte; Hellmuth, Anna-Sophia; Ritter, Malte; Findik, Betül; Zakharova, Viktoria; Bräuning, Sandro; Kandabarau, Sergey; Lengerke, Claudia; Feil, Robert; Meyts, Isabelle; Delon, Jérôme; Templin, Markus; Sturm, Marc; Rieß, Olaf; Zeidler, Cornelia; Welte, Karl; Shcherbina, Anna; Klimiankou, Maksim; Skokowa, Julia

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

对人类 RAG 缺陷的多组学分析揭示了独特的免疫失调模式,但具有共同的炎症特征。

Bosticardo Marita, Dobbs Kerry, Delmonte Ottavia M, Martins Andrew J, Pala Francesca, Kawai Tomoki, Kenney Heather, Magro Gloria, Rosen Lindsey B, Yamazaki Yasuhiro, Yu Hsin-Hui, Calzoni Enrica, Lee Yu Nee, Liu Can, Stoddard Jennifer, Niemela Julie, Fink Danielle, Castagnoli Riccardo, Ramba Meredith, Cheng Aristine, Riley Deanna, Oikonomou Vasileios, Shaw Elana, Belaid Brahim, Keles Sevgi, Al-Herz Waleed, Cancrini Caterina, Cifaldi Cristina, Baris Safa, Sharapova Svetlana, Schuetz Catharina, Gennery Andrew R, Freeman Alexandra F, Somech Raz, Choo Sharon, Giliani Silvia C, Güngör Tayfun, Drozdov Daniel, Meyts Isabelle, Moshous Despina, Neven Benedicte, Abraham Roshini S, El-Marsafy Aisha, Kanariou Maria, King Alejandra, Licciardi Francesco, Cruz-Muñoz Mario E, Palma Paolo, Poli Cecilia, Adeli Mehdi, Algeri Mattia, Alroqi Fayhan J, Bastard Paul, Bergerson Jenna R E, Booth Claire, Brett Ana, Burns Siobhan O, Butte Manish J, Padem Nurcicek, de la Morena M, Dbaibo Ghassan, de Ravin Suk See, Dimitrova Dimana, Djidjik Reda, Dorna Mayra B, Dutmer Cullen M, Elfeky Reem, Facchetti Fabio, Fuleihan Ramsay L, Geha Raif S, Gonzalez-Granado Luis I, Haljasmägi Liis, Ale Hanadys, Hayward Anthony, Hifanova Anna M, Ip Winnie, Kaplan Blanka, Kapoor Neena, Karakoc-Aydiner Elif, Kärner Jaanika, Keller Michael D, Dávila Saldaña Blachy J, Kiykim Ayça, Kuijpers Taco W, Kuznetsova Elena E, Latysheva Elena A, Leiding Jennifer W, Locatelli Franco, Alva-Lozada Guisela, McCusker Christine, Celmeli Fatih, Morsheimer Megan, Ozen Ahmet, Parvaneh Nima, Pasic Srdjan, Plebani Alessandro, Preece Kahn, Prockop Susan, Sakovich Inga S, Starkova Elena E, Torgerson Troy, Verbsky James, Walter Jolan E, Ward Brant, Wisner Elizabeth L, Draper Deborah, Myint-Hpu Katherine, Truong Pooi M, Lionakis Michail S, Similuk Morgan B, Walkiewicz Magdalena A, Klion Amy, Holland Steven M, Oguz Cihan, Bogunovic Dusan, Kisand Kai, Su Helen C, Tsang John S, Kuhns Douglas, Villa Anna, Rosenzweig Sergio D, Pittaluga Stefania, Notarangelo Luigi D

Oncostatin M silence and neopeptide: the value of exploring patients with rare inherited bone marrow failure

抑癌素M沉默和新肽:探索罕见遗传性骨髓衰竭患者的价值

Delafontaine, Selket; Meyts, Isabelle

Getting to know adenosine deaminase 2 deficiency inside and out

深入了解腺苷脱氨酶 2 缺乏症

Ehlers, Lisa; Meyts, Isabelle