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

Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function.

白细胞中人类 E3 泛素连接酶 CBL 的体细胞缺陷会损害 B 细胞的发育和功能,但不会影响 T 细胞的发育和功能。

Vatovec Taja, Neehus Anna-Lena, Jackson Katherine J L, Avery Danielle T, Bagarić Ivan, Erazo Lucia, Arango-Franco Carlos A, Ogishi Masato, Ahmed Syed F, Cederholm Axel, Russell Amanda J, Della Mina Erika, Al-Rifai Dena, Bull Rowena, Buetow Lori, Sobrino Steicy, Zhang Allison, Wahlster Lara, Michelet Marine, Parvaneh Nima, Peel Jessica, Barzaghi Federica, Leardini Davide, Philippot Quentin, Saettini Francesco, Dutrieux Jacques, de Muylder Benedicte, Vendemini Francesca, Baccelli Francesco, Catala Albert, Gambineri Eleonora, Veltroni Marinella, Pandiarajan Vignesh, Aguilar Yurena, Haerynck Filomeen, Elliott Michael, Turville Stuart, Brillot Fabienne, Khan Taushif, Consonni Filippo, Berteloot Laureline, Sewell William A, Rao Geetha, Largeaud Laetitia, Conti Francesca, Roullion Cecile, Masson Cécile, Pegoraro Francesco, Ye Tianyi, Joubran Samantha, Villalpando Emily, Bessot Boris, Seeleuthner Yoann, Le Voyer Tom, Rosain Jérémie, Li Hailun, Janda Zarah, Muratore Edoardo, Soudée Camille, Delabesse Eric, Goulvestre Claire, Shahrooei Mohammad, Puel Anne, André Isabelle, Bole-Feysot Christine, Abel Laurent, Erlacher Miriam, Béziat Vivien, Lagresle-Peyrou Chantal, Cheynier Remi, Six Emmanuelle, Marr Nico, Pasquet Marlène, Alsina Laia, Goodnow Christopher C, Landegren Nils, Aiuti Alessandro, Zhang Peng, Masetti Riccardo, Huang Danny T, Ma Cindy S, Casanova Jean-Laurent, Sankaran Vijay G, Bustamante Jacinta, Tangye Stuart G, Bohlen Jonathan

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

Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report

GATA2缺陷患者骨髓CD8+细胞丰度与进行性骨髓纤维化和骨髓增生异常综合征进展呈负相关:病例报告

Vendemini, Francesca; Roncareggi, Samuele; L'Imperio, Vincenzo; Guerra, Fabiola; Mottadelli, Federica; Chiarini, Marco; Maglia, Oscar; Sala, Simona; Fazio, Grazia; Piazza, Rocco; Bonanomi, Sonia; Biondi, Andrea; Saettini, Francesco

Expanding the Spectrum of Selective IgM Deficiency: From Infections to Immune Dysregulation

扩大选择性IgM缺乏症的谱系:从感染到免疫失调

Fumagalli, Rebecca; Saettini, Francesco

FNIP1 Deficiency: Pathophysiology and Clinical Manifestations of a Rare Syndromic Primary Immunodeficiency

FNIP1 缺乏症:一种罕见综合征型原发性免疫缺陷的病理生理学和临床表现

Roncareggi, Samuele; Iritani, Brian M; Saettini, Francesco

Small-molecule CBP/p300 histone acetyltransferase inhibition mobilizes leukocytes from the bone marrow via the endocrine stress response

小分子CBP/p300组蛋白乙酰转移酶抑制剂可通过内分泌应激反应动员骨髓中的白细胞

Nikolai P Jaschke ,Dorit Breining ,Maura Hofmann ,Sophie Pählig ,Ulrike Baschant ,Reinhard Oertel ,Sofia Traikov ,Tatyana Grinenko ,Francesco Saettini ,Andrea Biondi ,Myrto Stylianou ,Henrik Bringmann ,Cuiling Zhang ,Tomomi M Yoshida ,Heike Weidner ,Wolfram C Poller ,Filip K Swirski ,Andy Göbel ,Lorenz C Hofbauer ,Martina Rauner ,Christoph Scheiermann ,Andrew Wang ,Tilman D Rachner

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation

白细胞性CBL杂合性缺失患者的自身炎症是由组成型ERK介导的单核细胞活化引起的。

Bohlen, Jonathan; Bagarić, Ivan; Vatovec, Taja; Ogishi, Masato; Ahmed, Syed F; Cederholm, Axel; Buetow, Lori; Sobrino, Steicy; Le Floc'h, Corentin; Arango-Franco, Carlos A; Seabra, Luis; Michelet, Marine; Barzaghi, Federica; Leardini, Davide; Saettini, Francesco; Vendemini, Francesca; Baccelli, Francesco; Catala, Albert; Gambineri, Eleonora; Veltroni, Marinella; Aguilar de la Red, Yurena; Rice, Gillian I; Consonni, Filippo; Berteloot, Laureline; Largeaud, Laetitia; Conti, Francesca; Roullion, Cécile; Masson, Cécile; Bessot, Boris; Seeleuthner, Yoann; Le Voyer, Tom; Rinchai, Darawan; Rosain, Jérémie; Neehus, Anna-Lena; Erazo-Borrás, Lucia; Li, Hailun; Janda, Zarah; Cho, En-Jui; Muratore, Edoardo; Soudée, Camille; Lainé, Candice; Delabesse, Eric; Goulvestre, Claire; Ma, Cindy S; Puel, Anne; Tangye, Stuart G; André, Isabelle; Bole-Feysot, Christine; Abel, Laurent; Erlacher, Miriam; Zhang, Shen-Ying; Béziat, Vivien; Lagresle-Peyrou, Chantal; Six, Emmanuelle; Pasquet, Marlène; Alsina, Laia; Aiuti, Alessandro; Zhang, Peng; Crow, Yanick J; Landegren, Nils; Masetti, Riccardo; Huang, Danny T; Casanova, Jean-Laurent; Bustamante, Jacinta

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

鲁宾斯坦-泰比综合征的诊断和治疗:首个国际共识声明

Lacombe, Didier; Bloch-Zupan, Agnès; Bredrup, Cecilie; Cooper, Edward B; Houge, Sofia Douzgou; García-Miñaúr, Sixto; Kayserili, Hülya; Larizza, Lidia; Lopez Gonzalez, Vanesa; Menke, Leonie A; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A; Tooke, Lloyd; Van der Zee, Jill A; Van Genderen, Maria M; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H M; Cueto-González, Anna M; Dominguez-Garrido, Elena; Duijkers, Floor A; Fergelot, Patricia; Halstead, Elizabeth; Huisman, Sylvia A; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Rodríguez Pena, Rebecca; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N; Smith, David F; Stevens, Markus F; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Valenzuena Palafoll, Irene; Van Der Kaay, Daniëlle C M; Van Wijk, Michiel P; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul C

Finding balance between mature and immature neutrophils: The effects of empagliflozin in GSD-Ib

平衡成熟和未成熟中性粒细胞:恩格列净对Ib型糖原贮积症的影响

Guerra, Fabiola; Gasperini, Serena; Bonanomi, Sonia; Crescitelli, Viola; Pretese, Roberta; Da Dalt, Lorenzo; Norata, Giuseppe Danilo; Balzarini, Marta; Biondi, Andrea; Baragetti, Andrea; Saettini, Francesco

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

针对特定先天性免疫缺陷群体,对人类表型本体进行整理和扩展

Haimel, Matthias; Pazmandi, Julia; Heredia, Raúl Jiménez; Dmytrus, Jasmin; Bal, Sevgi Köstel; Zoghi, Samaneh; van Daele, Paul; Briggs, Tracy A; Wouters, Carine; Bader-Meunier, Brigitte; Aeschlimann, Florence A; Caorsi, Roberta; Eleftheriou, Despina; Hoppenreijs, Esther; Salzer, Elisabeth; Bakhtiar, Shahrzad; Derfalvi, Beata; Saettini, Francesco; Kusters, Maaike A A; Elfeky, Reem; Trück, Johannes; Rivière, Jacques G; van der Burg, Mirjam; Gattorno, Marco; Seidel, Markus G; Burns, Siobhan; Warnatz, Klaus; Hauck, Fabian; Brogan, Paul; Gilmour, Kimberly C; Schuetz, Catharina; Simon, Anna; Bock, Christoph; Hambleton, Sophie; de Vries, Esther; Robinson, Peter N; van Gijn, Marielle; Boztug, Kaan