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

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases

外显子组测序可对 10% 的早发性或家族性系统性红斑狼疮病例进行分子诊断。

Tusseau, Maud; Khaldi-Plassart, Samira; Labalme, Audrey; Mathieu, Anne-Laure; Riller, Quentin; Molitor, Corentin; Simonet, Thomas; Viel, Sebastien; Gaboriaud, Christine; Thielens, Nicole; Heiser, Lionel; Chopin, Emilie; Rouvet, Isabelle; Fabien, Nicole; Goncalves, David; Fremeaux-Bacchi, Véronique; El-Sissy, Carine; Pottier, Nicolas; Larrue, Romain; Ranchin, Bruno; Laurent, Audrey; Fouillet-Desjonqueres, Marine; Jouret, Maurine; Mekinian, Arsène; Yamashita, Motoi; Morio, Tomohiro; Hachulla, Eric; Melki, Isabelle; Kone-Paut, Isabelle; Ballot, Claire; Reumaux, Heloise; Pillet, Pascal; Harambat, Jerome; Richez, Christophe; Richer, Olivier; Hatchuel, Yves; Louillet, Ferielle; Lega, Jean-Christophe; Durieu, Isabelle; Welfringer-Morin, Anne; Picard, Capucine; Messadi, Wassila; Sarrot-Reynauld, Françoise; Sanlaville, Damien; Bader-Meunier, Brigitte; Walzer, Thierry; Lesca, Gaëtan; Rieux-Laucat, Frédéric; Belot, Alexandre

Childhood isolated C3d-positive AIHA: favorable prognosis but rare relapse or associated immunodeficiency

儿童孤立性C3d阳性自身免疫性溶血性贫血:预后良好,但复发或伴有免疫缺陷的情况罕见

Blachez, Marion; Aladjidi, Nathalie; Modot, Thomas; Fernandes, Helder; Garnier, Nathalie; Chastagner, Pascal; Bayart, Sophie; Armari-Alla, Corinne; Piguet, Christophe; Pasquet, Marlène; Paillard, Catherine; Pluchart, Claire; Guitton, Corinne; Thomas, Caroline; Barlogis, Vincent; Pellier, Isabelle; Stephan, Jean-Louis; Benadiba, Joy; Jeziorski, Eric; Deparis, Marianna; Carausu, Liana; Cheikh, Nathalie; Li-Thiao Te, Valérie; Lejeune, Julien; Marie-Cardine, Aude; Millot, Frédéric; Abou Chahla, Wadih; Gay, Sophie; Alimi, Aurélia; Petit, Arnaud; Castelle, Martin; Moshous, Despina; Picard, Capucine; Rieux-Laucat, Frédéric; Leblanc, Thierry; Ducassou, Stéphane; Leverger, Guy; Fahd, Mony; Héritier, Sébastien

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

A New Variant in CTLA4 Highlights the Heterogeneous Phenotype of CTLA4 Haploinsufficiency

CTLA4基因新变异凸显CTLA4单倍体不足的异质性表型

Sormani, Jonathan; Belot, Alexandre; Nove-Josserand, Raphaele; Picard, Capucine; Rosain, Jérémie; Villard, Marine; Viel, Sebastien; Ouachee-Chardin, Marie; Mercier, Emma; Giannoli, Catherine; Moskovtchenko, Philippe; Rabeyrin, Maud; Balme, Brigitte; Durieu, Isabelle; Mathieu, Anne-Laure; Reynaud, Quitterie

Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit

对儿科重症监护病房因严重感染住院的患者进行原发性免疫缺陷的系统性筛查

Deguet, Anna; Vigue, Marie-Gabrielle; Lozano, Claire; Baleine, Julien; Milesi, Christophe; Sirvent, Anne; Kollen, Laura; Domitien, Léa; Willems, Marjolaine; Donadieu, Jean; Bellané-Chantelot, Christine; Defendi, Federica; El Sissy, Carine; Spraul, Anne; Rosain, Jérémie; Picard, Capucine; Pissarra, Joana; Mollevi, Caroline; Herman, Fanchon; Bustamante, Jacinta; Jeziorski, Eric

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity

2024年国际免疫学会(IUIS)人类先天性免疫缺陷表型分类更新

Bousfiha, Ahmed Aziz; Jeddane, Leïla; Moundir, Abderrahmane; Poli, M Cecilia; Aksentijevich, Ivona; Cunningham-Rundles, Charlotte; Hambleton, Sophie; Klein, Christoph; Morio, Tomohiro; Picard, Capucine; Puel, Anne; Rezaei, Nima; Seppänen, Mikko R J; Somech, Raz; Su, Helen C; Sullivan, Kathleen E; Torgerson, Troy R; Tangye, Stuart G; Meyts, Isabelle

Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee

人类先天性免疫缺陷:国际免疫学会联盟专家委员会2024年分类更新

Poli, M Cecilia; Aksentijevich, Ivona; Bousfiha, Ahmed Aziz; Cunningham-Rundles, Charlotte; Hambleton, Sophie; Klein, Christoph; Morio, Tomohiro; Picard, Capucine; Puel, Anne; Rezaei, Nima; Seppänen, Mikko R J; Somech, Raz; Su, Helen C; Sullivan, Kathleen E; Torgerson, Troy R; Meyts, Isabelle; Tangye, Stuart G

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity

内含子分支点至受体变异是先天性免疫缺陷的根本原因

Alioua, Najiba; Lambert, Nathalie; Puel, Mathilde; Hanein, Sylvain; Bastard, Paul; Fusaro, Mathieu; Jaffray, Marie; Medel, Bernardita; Khellaf, Lydia; Seeleuthner, Yoann; Perin, Mélodie; Jacques, Corinne; Pasquet, Marlène; Olivier, Laura; Sepulveda, Fernando; Le Voyer, Tom; Cobat, Aurélie; Nitschké, Patrick; Galicier, Lionel; Schleinitz, Nicolas; Oksenhendler, Eric; Malphettes, Marion; Neven, Bénédicte; Moshous, Despina; Suarez, Felipe; Fieschi, Claire; Casanova, Jean-Laurent; de Saint Basile, Geneviève; Dorval, Guillaume; Picard, Capucine; Bustamante, Jacinta; Zhang, Peng; Rosain, Jérémie

Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy

基因诊断指导自身免疫性肠病的治疗

Charbit-Henrion, Fabienne; Haas, Manon; Chaussade, Stanislas; Cellier, Christophe; Cerf-Bensussan, Nadine; Malamut, Georgia; Khater, Sherine; Khiat, Anis; Cording, Sascha; Parlato, Marianna; Dragon-Durey, Marie-Agnès; Beuvon, Frédéric; Brousse, Nicole; Terris, Benoît; Picard, Capucine; Fusaro, Mathieu; Rieux-Laucat, Frédéric; Stolzenberg, Marie-Claude; Jannot, Anne-Sophie; Mathian, Alexis; Allez, Matthieu; Malphettes, Marion; Fieschi, Claire; Aubourg, Alexandre; Zallot, Camille; Roblin, Xavier; Abitbol, Vered; Belle, Arthur; Wils, Pauline; Cheminant, Morgane; Matysiak-Budnik, Tamara; Vuitton, Lucine; Pouderoux, Philippe; Abramowitz, Laurent; Castelle, Martin; Suarez, Felipe; Hermine, Olivier; Ruemmele, Frank; Mouthon, Luc