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

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.

DIAPH1 的遗传性缺陷揭示了由 α-肌动蛋白调控的 DNA 双链断裂修复途径

Woodward Beth L, Lahiri Sudipta, Chauhan Anoop S, Garcia Marcos Rios, Goodley Lucy E, Clarke Thomas L, Pal Mohinder, Agathanggelou Angelo, Jhujh Satpal S, Ganesh Anil N, Hollins Fay M, Deforie Valentina Galassi, Maroofian Reza, Efthymiou Stephanie, Meinhardt Andrea, Mathew Christopher G, Simpson Michael A, Mefford Heather C, Faqeih Eissa A, Rosenzweig Sergio D, Volpi Stefano, Di Matteo Gigliola, Cancrini Caterina, Scardamaglia Annarita, Shackley Fiona, Davies E Graham, Ibrahim Shahnaz, Arkwright Peter D, Zaki Maha S, Stankovic Tatjana, Taylor A Malcolm R, Mazur Antonina J, Di Donato Nataliya, Houlden Henry, Rothenberg Eli, Stewart Grant S

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

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort

心面皮肤综合征与免疫缺陷:来自一项国际多中心队列研究的数据

Di Majo, Benedetta Elena; Leoni, Chiara; Cartisano, Eleonora; Fossati, Chiara; Viscogliosi, Germana; Trevisan, Valentina; Bruno, Lucia Pia; Conti, Francesca; Moratti, Mattia; Monaco, Emilia; Rigante, Donato; Rivalta, Beatrice; Cancrini, Caterina; Szczawińska-Popłonyk, Aleksandra; Jamsheer, Aleksander; Obara-Moszyńska, Monika; Zakharova, Viktoria; Shcherbina, Anna; Rodina, Julija; Tüysüz, Beyhan; Jamuar, Saumya Shekhar; Lim, Jiin Ying; Goh, Jeannette; Cereda, Anna; Agovino, Teresa; Contaldo, Ilaria; Gambardella, Maria Luigia; Balduzzi, Adriana Cristina; Cherubino, Alessia; Marrocco, Giovanni Antonio; Bellesi, Silvia; Carusi, Valentina; Rumi, Gabriele; Biondi, Andrea; Zampino, Giuseppe; Saettini, Francesco

Italian pediatric experts' consensus statement on diagnosis and management of primary atopic disorders

意大利儿科专家关于原发性特应性疾病诊断和治疗的共识声明

Cardinale, Fabio; Taietti, Ivan; Sgrulletti, Mayla; Pacillo, Lucia; Moschese, Viviana; Cancrini, Caterina; Badolato, Raffaele; Miraglia Del Giudice, Michele; Marseglia, Gian Luigi; Chiappini, Elena; Castagnoli, Riccardo

Batch Heterogeneous Catalytic Selective Hydrogenation of Vegetable Oils Over Lindlar Catalyst: Kinetic Modeling Supported by Reaction Mechanisms

Lindlar催化剂上植物油的分批非均相催化选择性加氢:反应机理支持的动力学模型

Pellegrino, Enza; Gallucci, Katia; Cancrini, Nicoletta; Di Giuliano, Andrea

Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti

无色素失禁的女性携带者 NEMO 功能部分丧失

Cristina Cifaldi, Mayla Sgrulletti, Silvia Di Cesare, Beatrice Rivalta, Agolini Emanuele, Lucia Colucci, Giusella Maria Francesca Moscato, Marta Matraxia, Chiara Perrone, Gigliola Di Matteo, Caterina Cancrini, Viviana Moschese

The dilemma of X-linked agammaglobulinemia carriers

X连锁无丙种球蛋白血症携带者的困境

Pulvirenti, Federica; Milito, Cinzia; Cinetto, Francesco; Garzi, Giulia; Sardella, Germano; Spadaro, Giuseppe; Lippi, Francesca; Guarnieri, Valentina; Cinicola, Bianca Laura; Carrabba, Maria; Guadagnolo, Daniele; Fabio, Giovanna; Martire, Baldassarre; Cancrini, Caterina; Lanzoni, Giulia; Finocchi, Andrea; Di Matteo, Gigliola; Pompilii, Eva; Ferrari, Simona; Quinti, Isabella

Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency

逆转录病毒基因疗法治疗腺苷脱氨酶缺乏症的长期和真实世界安全性和有效性

Migliavacca, Maddalena; Barzaghi, Federica; Fossati, Claudia; Rancoita, Paola M V; Gabaldo, Michela; Dionisio, Francesca; Giannelli, Stefania; Salerio, Federica Andrea; Ferrua, Francesca; Tucci, Francesca; Calbi, Valeria; Gallo, Vera; Recupero, Salvatore; Consiglieri, Giulia; Pajno, Roberta; Sambuco, Maria; Priolo, Alessio; Ferri, Chiara; Garella, Vittoria; Monti, Ilaria; Silvani, Paolo; Darin, Silvia; Casiraghi, Miriam; Corti, Ambra; Zancan, Stefano; Levi, Margherita; Cesana, Daniela; Carlucci, Filippo; Pituch-Noworolska, Anna; AbdElaziz, Dalia; Baumann, Ulrich; Finocchi, Andrea; Cancrini, Caterina; Ladogana, Saverio; Meinhardt, Andrea; Meyts, Isabelle; Montin, Davide; Notarangelo, Lucia Dora; Porta, Fulvio; Pasquet, Marlène; Speckmann, Carsten; Stepensky, Polina; Tommasini, Alberto; Rabusin, Marco; Karakas, Zeynep; Galicchio, Miguel; Leonardi, Lucia; Duse, Marzia; Guner, Sukru Nail; Di Serio, Clelia; Ciceri, Fabio; Bernardo, Maria Ester; Aiuti, Alessandro; Cicalese, Maria Pia

A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID

一例接受逆转录病毒基因治疗的ADA-SCID患者发生T细胞急性淋巴细胞白血病的病例报告

Daniela Cesana # ,Maria Pia Cicalese # ,Andrea Calabria ,Pietro Merli ,Roberta Caruso ,Monica Volpin ,Laura Rudilosso ,Maddalena Migliavacca ,Federica Barzaghi ,Claudia Fossati ,Francesco Gazzo ,Simone Pizzi ,Andrea Ciolfi ,Alessandro Bruselles ,Francesca Tucci ,Giulio Spinozzi ,Giulia Pais ,Fabrizio Benedicenti ,Matteo Barcella ,Ivan Merelli ,Pierangela Gallina ,Stefania Giannelli ,Francesca Dionisio ,Serena Scala ,Miriam Casiraghi ,Luisa Strocchio ,Luciana Vinti ,Lucia Pacillo ,Eleonora Draghi ,Marcella Cesana ,Sara Riccardo ,Chiara Colantuono ,Emmanuelle Six ,Marina Cavazzana ,Filippo Carlucci ,Manfred Schmidt ,Caterina Cancrini ,Fabio Ciceri ,Luca Vago ,Davide Cacchiarelli ,Bernhard Gentner ,Luigi Naldini ,Marco Tartaglia ,Eugenio Montini ,Franco Locatelli ,Alessandro Aiuti