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

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

Long-term outcome in Wiskott-Aldrich syndrome and X-linked thrombocytopenia patients: an observational -prospective multi-center study of the Italian Primary Immune Deficiency Network (IPINET)

Wiskott-Aldrich 综合征和 X 连锁血小板减少症患者的长期预后:意大利原发性免疫缺陷网络 (IPINET) 的一项观察性前瞻性多中心研究

Soresina, Annarosa; Rondelli, Roberto; Notarangelo, Lucia Dora; Locatelli, Franco; Aiuti, Alessandro; Biffi, Alessandra; Rabusin, Marco; Pignata, Claudio; Menna, Giuseppe; Prete, Arcangelo; Faraci, Maura; Rovelli, Attilio; Conti, Francesca; Bertolini, Patrizia; Azzari, Chiara; Cancrini, Caterina; Zecca, Marco; Ferrua, Francesca; Cicalese, Maria Pia; Cecere, Francesco; Dotta, Laura; Martire, Baldassarre; Giliani, Silvia; Moratto, Daniele; Mazza, Cinzia; Plebani, Alessandro; Notarangelo, Luigi D; Pession, Andrea; Badolato, Raffaele; Fulvio, Fulvio

A randomised, placebo-controlled, phase III trial of leniolisib in activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): Adolescent and adult subgroup analysis

一项针对活化磷脂酰肌醇3-激酶δ (PI3Kδ) 综合征 (APDS) 的 leniolisib 随机、安慰剂对照 III 期试验:青少年和成人亚组分析

Rao, V Koneti; Šedivá, Anna; Dalm, Virgil A S H; Plebani, Alessandro; Schuetz, Catharina; Shcherbina, Anna; Trizzino, Antonino; Zharankova, Yulia; Orpia, Alanvin; Kulm, Elaine; Webster, Sharon; Körholz, Julia; Lougaris, Vassilios; Rodina, Yulia; Conlon, Niall; Coulter, Tanya; Bradt, Jason; Relan, Anurag; Uzel, Gulbu

Interim analysis: Open-label extension study of leniolisib for patients with APDS

中期分析:leniolisib治疗APDS患者的开放标签扩展研究

Rao, V Koneti; Kulm, Elaine; Šedivá, Anna; Plebani, Alessandro; Schuetz, Catharina; Shcherbina, Anna; Dalm, Virgil A; Trizzino, Antonino; Zharankova, Yulia; Webster, Sharon; Orpia, Alanvin; Körholz, Julia; Lougaris, Vassilios; Rodina, Yulia; Radford, Kath; Bradt, Jason; Relan, Anurag; Holland, Steven M; Lenardo, Michael J; Uzel, Gulbu

CVID-Associated B Cell Activating Factor Receptor Variants Change Receptor Oligomerization, Ligand Binding, and Signaling Responses

CVID相关B细胞激活因子受体变异体改变受体寡聚化、配体结合和信号传导反应

Block, Violeta; Sevdali, Eirini; Recher, Mike; Abolhassani, Hassan; Hammarstrom, Lennart; Smulski, Cristian R; Baronio, Manuela; Plebani, Alessandro; Proietti, Michele; Speletas, Matthaios; Warnatz, Klaus; Voll, Reinhard E; Lougaris, Vassilios; Schneider, Pascal; Eibel, Hermann

The Impact of SARS-CoV-2 Infection in Patients with Inborn Errors of Immunity: the Experience of the Italian Primary Immunodeficiencies Network (IPINet)

SARS-CoV-2 感染对先天性免疫缺陷患者的影响:意大利原发性免疫缺陷网络 (IPINet) 的经验

Giardino, Giuliana; Milito, Cinzia; Lougaris, Vassilios; Punziano, Alessandra; Carrabba, Maria; Cinetto, Francesco; Scarpa, Riccardo; Dellepiane, Rosa Maria; Ricci, Silvia; Rivalta, Beatrice; Conti, Francesca; Marzollo, Antonio; Firinu, Davide; Cirillo, Emilia; Lagnese, Gianluca; Cancrini, Caterina; Martire, Baldassare; Danieli, Maria Giovanna; Pession, Andrea; Vacca, Angelo; Azzari, Chiara; Fabio, Giovanna; Soresina, Annarosa; Agostini, Carlo; Spadaro, Giuseppe; Badolato, Raffaele; Cicalese, Maria Pia; Aiuti, Alessandro; Plebani, Alessandro; Quinti, Isabella; Pignata, Claudio

Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network

共济失调毛细血管扩张症患者B细胞和T细胞进行性耗竭:意大利原发性免疫缺陷网络的研究结果

Cirillo, Emilia; Polizzi, Agata; Soresina, Annarosa; Prencipe, Rosaria; Giardino, Giuliana; Cancrini, Caterina; Finocchi, Andrea; Rivalta, Beatrice; Dellepiane, Rosa M; Baselli, Lucia A; Montin, Davide; Trizzino, Antonino; Consolini, Rita; Azzari, Chiara; Ricci, Silvia; Lodi, Lorenzo; Quinti, Isabella; Milito, Cinzia; Leonardi, Lucia; Duse, Marzia; Carrabba, Maria; Fabio, Giovanna; Bertolini, Patrizia; Coccia, Paola; D'Alba, Irene; Pession, Andrea; Conti, Francesca; Zecca, Marco; Lunardi, Claudio; Bianco, Manuela Lo; Presti, Santiago; Sciuto, Laura; Micheli, Roberto; Bruzzese, Dario; Lougaris, Vassilios; Badolato, Raffaele; Plebani, Alessandro; Chessa, Luciana; Pignata, Claudio

Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents

遗传性人类c-Rel缺乏症会破坏髓系和淋巴系对多种感染性病原体的免疫力。

Lévy, Romain; Langlais, David; Béziat, Vivien; Rapaport, Franck; Rao, Geetha; Lazarov, Tomi; Bourgey, Mathieu; Zhou, Yu J; Briand, Coralie; Moriya, Kunihiko; Ailal, Fatima; Avery, Danielle T; Markle, Janet; Lim, Ai Ing; Ogishi, Masato; Yang, Rui; Pelham, Simon; Emam, Mehdi; Migaud, Mélanie; Deswarte, Caroline; Habib, Tanwir; Saraiva, Luis R; Moussa, Eman A; Guennoun, Andrea; Boisson, Bertrand; Belkaya, Serkan; Martinez-Barricarte, Ruben; Rosain, Jérémie; Belkadi, Aziz; Breton, Sylvain; Payne, Kathryn; Benhsaien, Ibtihal; Plebani, Alessandro; Lougaris, Vassilios; Di Santo, James P; Neven, Bénédicte; Abel, Laurent; Ma, Cindy S; Bousfiha, Ahmed Aziz; Marr, Nico; Bustamante, Jacinta; Liu, Kang; Gros, Philippe; Geissmann, Frédéric; Tangye, Stuart G; Casanova, Jean-Laurent; Puel, Anne

Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

冠状病毒病2019在先天性免疫缺陷患者中的发病情况:一项国际研究

Meyts, Isabelle; Bucciol, Giorgia; Quinti, Isabella; Neven, Bénédicte; Fischer, Alain; Seoane, Elena; Lopez-Granados, Eduardo; Gianelli, Carla; Robles-Marhuenda, Angel; Jeandel, Pierre-Yves; Paillard, Catherine; Sankaran, Vijay G; Demirdag, Yesim Yilmaz; Lougaris, Vassilios; Aiuti, Alessandro; Plebani, Alessandro; Milito, Cinzia; Dalm, Virgil Ash; Guevara-Hoyer, Kissy; Sánchez-Ramón, Silvia; Bezrodnik, Liliana; Barzaghi, Federica; Gonzalez-Granado, Luis Ignacio; Hayman, Grant R; Uzel, Gulbu; Mendonça, Leonardo Oliveira; Agostini, Carlo; Spadaro, Giuseppe; Badolato, Raffaele; Soresina, Annarosa; Vermeulen, François; Bosteels, Cedric; Lambrecht, Bart N; Keller, Michael; Mustillo, Peter J; Abraham, Roshini S; Gupta, Sudhir; Ozen, Ahmet; Karakoc-Aydiner, Elif; Baris, Safa; Freeman, Alexandra F; Yamazaki-Nakashimada, Marco; Scheffler-Mendoza, Selma; Espinosa-Padilla, Sara; Gennery, Andrew R; Jolles, Stephen; Espinosa, Yazmin; Poli, M Cecilia; Fieschi, Claire; Hauck, Fabian; Cunningham-Rundles, Charlotte; Mahlaoui, Nizar; Warnatz, Klaus; Sullivan, Kathleen E; Tangye, Stuart G

Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

简单测量IgA即可预测毛细血管扩张性共济失调患者的免疫力和死亡率

Zielen, Stefan; Duecker, Ruth Pia; Woelke, Sandra; Donath, Helena; Bakhtiar, Sharhzad; Buecker, Aileen; Kreyenberg, Hermann; Huenecke, Sabine; Bader, Peter; Mahlaoui, Nizar; Ehl, Stephan; El-Helou, Sabine M; Pietrucha, Barbara; Plebani, Alessandro; van der Flier, Michiel; van Aerde, Koen; Kilic, Sara S; Reda, Shereen M; Kostyuchenko, Larysa; McDermott, Elizabeth; Galal, Nermeen; Pignata, Claudio; Pérez, Juan Luis Santos; Laws, Hans-Juergen; Niehues, Tim; Kutukculer, Necil; Seidel, Markus G; Marques, Laura; Ciznar, Peter; Edgar, John David M; Soler-Palacín, Pere; von Bernuth, Horst; Krueger, Renate; Meyts, Isabelle; Baumann, Ulrich; Kanariou, Maria; Grimbacher, Bodo; Hauck, Fabian; Graf, Dagmar; Granado, Luis Ignacio Gonzalez; Prader, Seraina; Reisli, Ismail; Slatter, Mary; Rodríguez-Gallego, Carlos; Arkwright, Peter D; Bethune, Claire; Deripapa, Elena; Sharapova, Svetlana O; Lehmberg, Kai; Davies, E Graham; Schuetz, Catharina; Kindle, Gerhard; Schubert, Ralf