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

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome

药物稳定缺氧诱导因子 1-α 可抑制干扰素反应并促进艾卡迪-古蒂埃综合征中的糖酵解。

Batignes, Maxime; Luka, Marine; Jagtap, Surabhi; de Cevins, Camille; Nemazanyy, Ivan; Leib, Jacqueline; Fali, Tinhinane; Pierga, Alexandre; Zarhrate, Mohammed; García-Paredes, Víctor; Carbone, Francesco; Pérot, Brieuc P; Neven, Bénédicte; Bader-Meunier, Brigitte; Quartier, Pierre; Hully, Marie; Belot, Alexandre; Lepelley, Alice; Frémond, Marie-Louise; Fischer, Alain; Ménager, Mickaël M

Lymphedema in patients with X-linked severe combined immunodeficiency

X连锁重症联合免疫缺陷患者的淋巴水肿

Consonni, Filippo; De Ravin, Suk See; Vignes, Stephane; Courteille, Virginie; Cavazzana, Marina; Berteloot, Laureline; Fischer, Alain; Neven, Bénédicte

Comorbidities in Mild WAS/XLT Require Lifelong Follow-Up and Consideration of Definitive Treatment

轻度WAS/XLT患者的合并症需要终身随访,并考虑根治性治疗。

Mallebranche, Coralie; Miot, Charline; Alligon, Mickael; Moshous, Despina; Neven, Benedicte; Barlogis, Vincent; Courteille, Virginie; Bruno, Bénédicte; Ouachée-Chardin, Marie; Adjaoud, Dalila; Delneste, Yves; Bouaziz, Olivier; Picard, Capucine; Fischer, Alain; Mahlaoui, Nizar; Pellier, Isabelle

Consecutive non-Aspergillus Fungal Invasive Infections in Chronic Granulomatous Disease: Data from the French National Reference Center for Primary ImmunoDeficiencies and literature review

慢性肉芽肿病中非曲霉菌侵袭性真菌的连续感染:来自法国国家原发性免疫缺陷参考中心的数据及文献综述

Lefevre, Leïla; Paccoud, Olivier; Neven, Bénédicte; Bougnoux, Marie-Elisabeth; Alligon, Mickaël; Bruneau, Julie; Fischer, Alain; Moshous, Despina; Bustamante, Jacinta; Picard, Capucine; Poiree, Sylvain; Guery, Romain; Castelle, Martin; Suarez, Felipe; Marcais, Ambroise; Cheminant, Morgane; Rouzaud, Claire; Hermoso, Dea Garcia; Salvator, Hélène; Catherinot, Emilie; Pilmis, Benoit; Luca, Luminita; Brion, Jean-Paul; Revest, Matthieu; Gandemer, Virginie; Lelievre, Lucie; Alvarez, Muriel; Conrad, Anne; Fouyssac, Fanny; Gaud, Catherine; Blumental, Sophie; Blanche, Stéphane; Lortholary, Olivier; Mahlaoui, Nizar; Lanternier, Fanny

Inborn errors of immunity: manifestation, treatment, and outcome - an ESID registry 1994-2024 report on 30,628 patients

先天性免疫缺陷:临床表现、治疗和预后——ESID 1994-2024 年注册研究报告(30,628 例患者)

Kindle, Gerhard; Alligon, Mickaël; Albert, Michael H; Buckland, Matthew; Edgar, J David; Gathmann, Benjamin; Ghosh, Sujal; Gkantaras, Antonios; Nieters, Alexandra; Pignata, Claudio; Robinson, Peter; Rusch, Stephan; Schuetz, Catharina; Sharapova, Svetlana; Shillitoe, Benjamin; Candotti, Fabio; Cant, Andrew J; Casanova, Jean-Laurent; Etzioni, Amos; Fischer, Alain; Meyts, Isabelle; Notarangelo, Luigi D; Pergent, Martine; Smith, C I Edvard; Hammarström, Lennart; Grimbacher, Bodo; Seppänen, Mikko; Mahlaoui, Nizar; Ehl, Stephan; Seidel, Markus G

Clinical and functional spectrum of RAC2-related immunodeficiency.

RAC2相关免疫缺陷的临床和功能谱

Donkó Ágnes, Sharapova Svetlana O, Kabat Juraj, Ganesan Sundar, Hauck Fabian H, Bergerson Jenna R E, Marois Louis, Abbott Jordan, Moshous Despina, Williams Kelli W, Campbell Nicholas, Martin Paul L, Lagresle-Peyrou Chantal, Trojan Timothy, Kuzmenko Natalia B, Deordieva Ekaterina A, Raykina Elena V, Abers Michael S, Abolhassani Hassan, Barlogis Vincent, Milla Carlos, Hall Geoffrey, Mousallem Talal, Church Joseph, Kapoor Neena, Cros Guilhem, Chapdelaine Hugo, Franco-Jarava Clara, Lopez-Lerma Ingrid, Miano Maurizio, Leiding Jennifer W, Klein Christoph, Stasia Marie José, Fischer Alain, Hsiao Kuang-Chih, Martelius Timi, Seppänen Mikko R J, Barmettler Sara, Walter Jolan, Masmas Tania N, Mukhina Anna A, Falcone Emilia Liana, Kracker Sven, Shcherbina Anna, Holland Steven M, Leto Thomas L, Hsu Amy P

Long-term assessment of haematological recovery following somatic genetic rescue in a MYSM1-deficient patient: Implications for in vivo gene therapy

对MYSM1缺陷患者进行体细胞基因修复后血液学恢复情况的长期评估:对体内基因治疗的启示

de Tocqueville, Sophie; Martin, Emmanuel; Riller, Quentin; Kermasson, Laëtitia; France, Benoit; Magérus, Aude; Rieux-Laucat, Frédéric; Delhommeau, François; Hirsch, Pierre; Touzart, Aurore; Echalier, Aude; Fischer, Alain; Moshous, Despina; Revy, Patrick

Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response

对SAVI患者外周血单核细胞进行单细胞RNA测序,发现疾病相关的单核细胞具有升高的整合应激反应。

Camille de Cevins ,Laure Delage ,Maxime Batignes ,Quentin Riller ,Marine Luka ,Anne Remaury ,Boris Sorin ,Tinhinane Fali ,Cécile Masson ,Bénédicte Hoareau ,Catherine Meunier ,Mélanie Parisot ,Mohammed Zarhrate ,Brieuc P Pérot ,Víctor García-Paredes ,Francesco Carbone ,Lou Galliot ,Béatrice Nal ,Philippe Pierre ,Luc Canard ,Charlotte Boussard ,Etienne Crickx ,Jean-Claude Guillemot ,Brigitte Bader-Meunier ,Alexandre Bélot ,Pierre Quartier ,Marie-Louise Frémond ,Bénédicte Neven ,Galina Boldina ,Franck Augé ,Fischer Alain ,Michel Didier ,Frédéric Rieux-Laucat ,Mickaël M Ménager

Clonal hematopoiesis is not significantly associated with COVID-19 disease severity

克隆性造血与 COVID-19 疾病严重程度无显著相关性。

Zhou, Yifan; Shalhoub, Ruba; Rogers, Stephanie N; Yu, Shiqin; Gu, Muxin; Fabre, Margarete A; Quiros, Pedro M; Shin, Tae-Hoon; Diangson, Arch; Deng, Wenhan; Anand, Shubha; Lu, Wenhua; Cullen, Matthew; Godfrey, Anna L; Preller, Jacobus; Hadjadj, Jerome; Jouanguy, Emmanuelle; Cobat, Aurélie; Abel, Laurent; Rieux-Laucat, Frederic; Terrier, Benjamin; Fischer, Alain; Novik, Lara; Gordon, Ingelise J; Strom, Larisa; Gaudinski, Martin R; Lisco, Andrea; Sereti, Irini; Gniadek, Thomas J; Biondi, Andrea; Bonfanti, Paolo; Imberti, Luisa; Dalgard, Clifton L; Zhang, Yu; Dobbs, Kerry; Su, Helen C; Notarangelo, Luigi D; Wu, Colin O; Openshaw, Peter J M; Semple, Malcolm G; Mallat, Ziad; Baillie, Kenneth; Dunbar, Cynthia E; Vassiliou, George S

Dealing with a mucosal viral pandemic: lessons from COVID-19 vaccines

应对黏膜病毒大流行:从新冠疫苗中汲取的经验教训

Mouro, Violette; Fischer, Alain