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

Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meeting

第二届原发性免疫缺陷人工智能(AIPI)会议论文集

Rivière, Jacques G; Bastarache, Lisa; Campos, Luiza C; Carot-Sans, Gerard; Chin, Aaron; Chunara, Rumi; Cunningham-Rundles, Charlotte; Erra, Lorenzo; Farmer, Jocelyn; Garcelon, Nicolas; Hsieh, Elena; Leavis, Helen; Lee, Seungwon; Liu, Liangying; Kusters, Maaike; Lloyd, Brian C; Martinson, Alexandra K; Mester, Rachel; Moore, Justin B; Moshous, Despina; Orange, Jordan S; Parrish, Nefatia; Parker, Sarah Henrickson; Pasaniuc, Bogdan; Peng, Xiao P; Pergent, Martine; Piera-Jiménez, Jordi; Quinn, Jessica; Ramesh, Sidharth; Roberts, Kirk; Robinson, Peter N; Savova, Guergana; Scalchunes, Christopher; Seidel, Markus G; Simoneau, Rachel; Soler-Palacin, Pere; Sullivan, Kathleen E; Van Gijn, Marielle; Wi, Chung-Il; Zhou, Dawei; Tenembaum, Vanessa; Butte, Manish J; Rider, Nicholas L

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

Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants

超越基因型:预测双等位基因穿孔素变异携带者疾病风险的挑战

Wegehaupt, Oliver; Borisov, Oleg; Sieni, Elena; Oyen, Florian; Mann, Jasmin; Coniglio, Maria Luisa; Chinnici, Aurora; Pegoraro, Francesco; Beneforti, Linda; Gilmour, Kimberly; Moshous, Despina; de Saint Basile, Geneviève; Zhang, Wenying; Marsh, Rebecca; De Fusco, Carmela; Wustrau, Katharina; Timeus, Fabio; Micalizzi, Concetta; Gunsilius, Eberhard; Hosking, Laine; Choo, Sharon; Ghosh, Sujal; Köttgen, Anna; Lehmberg, Kai; Ehl, Stephan

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

MMS22L is a novel key actor of normal and pathological erythropoiesis

MMS22L是正常和病理性红细胞生成过程中的一个新型关键因子

Colin, Elia; Ferrer-Vicens, Ivan; Brook, Dror; Salma, Mohammad; Andrieu-Soler, Charlotte; Bayard, Elisa; Fernandes, Alicia; Brouzes, Chantal; Lefèvre, Carine; Duval, Romain; Dussiot, Michaël; Trovati, Thiago; Courtois, Geneviève; Azouzi, Slim; Zarhrate, Mohammed; Lambilliotte, Anne; Park, Sophie; Carpentier, Benjamin; Colard, Martin; Manceau, Sandra; Moshous, Despina; Mayeux, Patrick; Gautier, Emilie-Fleur; Miccio, Annarita; Soulier, Jean; Vainchenker, William; Shlush, Liran; Da Costa, Lydie; Frayne, Jan; Soler, Eric; Hermine, Olivier; Couronné, Lucile

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

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study

罕见病转诊中心就诊的儿童和青少年妇科问题:一项观察性回顾性队列研究

Cavadias, Iphigénie; Viaud, Magali; Falampin, Marie; Cheikhelard, Alaa; Gueniche, Karinne; Ouallouche, Chloé; Samara-Boustani, Dinane; Bonnet, Damien; Bahi-Buisson, Nadia; Quartier-Dit-Maire, Pierre; Hadj-Rabia, Smaïl; Heidet, Laurence; Allali, Slimane; de Lonlay, Pascale; Amiel, Jeanne; Nabbout, Rima; Moshous, Despina; Cormier-Daire, Valérie; Picard, Arnaud; Desguerre, Isabelle; Sermet-Gaudelus, Isabelle; Pinto, Graziella; Bremond-Gignac, Dominique; Ruemmele, Frank; Girard, Muriel; Abadie, Véronique; James, Syril; Harroche, Annie; Polak, Michel; Da Costa, Sabrina

Factors associated with and kinetics of anti-IFN-α autoantibodies in RAG1/2 deficiency

RAG1/2缺陷中抗IFN-α自身抗体的相关因素及动力学

Wang, Chen; Potts, David Evan; Sun, Bijun; Toth, Marta; Ujhazi, Boglarka; Sharapova, Svetlana; Miller, Rahim; Rosen, Lindsey; Yilmaz, Melis; Larsen, Kellie; Delmonte, Ottavia M; Poskitt, Laura E; Allenspach, Eric J; de la Morena, Maria Teresa; Ward, Brant R; Hernandez, Joseph D; Geier, Christoph B; Bolanos, Hannie Zomer; Al-Herz, Waleed; Kuijpers, Taco W; Petrov, Andrej A; Savic, Sinisa; Chen, Karin; Westermann-Clark, Emma; Dutmer, Cullen M; Kanariou, Maria G; Adeli, Mehdi; Palma, Paolo; Bonfim, Carmem; Lycopoulou, Evangelia; Wolska-Kusnierz, Beata; de Barros Dorna, Mayra; Dbaibo, Ghassan; Bleesing, Jack; Moshous, Despina; Licciardi, Francesco; Neven, Benedicte; Schuetz, Catharina; Geha, Raif S; Miano, Maurizio; Goldman, Stanton C; Raasch, Jason; Gonzalez-Granado, Luis Ignacio; Celmeli, Fatih; Baris, Safa; Abraham, Roshini S; Buchbinder, David K; Butte, Manish J; Wang, Ji-Yang; Wang, Xiaochuan; Strauss, Kevin A; Holland, Steven M; Notarangelo, Luigi D; Walter, Jolan E

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