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

Sustained remission after discontinuation of ALK inhibition in ALK-positive histiocytosis

ALK阳性组织细胞增生症停用ALK抑制剂后持续缓解

Kemps, Paul G; Picarsic, Jennifer L; Héritier, Sébastien; Donadieu, Jean; Haroche, Julien; Farnault, Laure; Gaspari, Stefania; Evseev, Dmitry A; Osipova, Daria S; Druy, Alexander E; Minkov, Milen; Picton, Susan; Beilken, Andreas; Möhle, Robert; Kuzmanović, Miloš B; Okuma, Hitomi S; Chow, Chung W; Campbell, Martin A; Phillips, Gregory S; Zhou, Yuhang; Goyal, Gaurav; Go, Ronald S; Yeo, Kee Kiat; Sisk, Bryan A; Weinstein, Joanna L; Campbell, Patrick K; Diamond, Eli L; Emile, Jean-François

Germ line LCP1 mutations cause immunodeficiency with neutropenia, monocytopenia, lymphopenia, and defective cytokinesis

生殖系LCP1突变会导致免疫缺陷,表现为中性粒细胞减少、单核细胞减少、淋巴细胞减少和细胞分裂缺陷。

van Bergen, Thijs; Bosch, Dennis A; Bellanné-Chantelot, Christine; Mulet-Lazaro, Roger; Bledsoe, Jacob R; Chen, Lanpeng; de Looper, Hans W J; van Dijk, Claire; Ter Borg, Mariette N D; Bindels, Eric M J; Hoogenboezem, Remco M; Roovers, Onno; Olofsen, Patricia A; Bartels, Marije; van Montfrans, Joris; Breed, Puck; Salzer, Elisabeth; Holierhoek, Marloes G; Nelken, Brigitte; Beaupain, Blandine; Fleming, Mark D; Shimamura, Akiko; Raaijmakers, Marc H G P; Donadieu, Jean; Newburger, Peter E; Touw, Ivo P; Aalbers, Anna M

Long-term outcome after allogeneic stem cell transplantation for GATA2 deficiency: An analysis of 67 adults and children from France and Belgium

异基因造血干细胞移植治疗GATA2缺陷的长期疗效:一项对来自法国和比利时的67名成人和儿童的分析

Sicre de Fontbrune, Flore; Chevillon, Florian; Fahd, Mony; Desseaux, Kristell; Poiré, Xavier; Forcade, Edouard; Sterin, Arthur; Neven, Bénédicte; Gandemer, Virginie; Thepot, Sylvain; Garnier, Alice; Lioure, Bruno; Marcais, Ambroise; Nguyen-Quoc, Stephanie; Tavitian, Suzanne; Vincent, Laure; Donadieu, Jean; Resche Riggon, Matthieu; Chevret, Sylvie; Pasquet, Marlene; Peffault de Latour, Regis

4D marmoset brain map reveals MRI and molecular signatures for onset of multiple sclerosis-like lesions.

4D狨猴脑图揭示了多发性硬化症样病变的MRI和分子特征。

Lin Jing-Ping, Brake Alexis, Donadieu Maxime, Lee Amanda, Smith Ginger, Hu Kevin, Nair Govind, Kawaguchi Riki, Sati Pascal, Geschwind Daniel H, Jacobson Steven, Schafer Dorothy P, Reich Daniel S

Role of clonal inflammatory microglia in histiocytosis-associated neurodegeneration

克隆性炎症小胶质细胞在组织细胞增生症相关神经退行性变中的作用

Rocio Vicario ,Stamatina Fragkogianni ,Maria Pokrovskii ,Carina Meyer ,Estibaliz Lopez-Rodrigo ,Yang Hu ,Masato Ogishi ,Araitz Alberdi ,Ann Baako ,Oyku Ay ,Isabelle Plu ,Véronique Sazdovitch ,Sebastien Heritier ,Fleur Cohen-Aubart ,Natalia Shor ,Makoto Miyara ,Florence Nguyen-Khac ,Agnes Viale ,Ahmed Idbaih ,Zahir Amoura ,Marc K Rosenblum ,Haochen Zhang ,Elias-Ramzey Karnoub ,Palash Sashittal ,Akhil Jakatdar ,Christine A Iacobuzio-Donahue ,Omar Abdel-Wahab ,Viviane Tabar ,Nicholas D Socci ,Olivier Elemento ,Eli L Diamond ,Bertrand Boisson ,Jean-Laurent Casanova ,Danielle Seilhean ,Julien Haroche ,Jean Donadieu ,Frederic Geissmann

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing

通过全外显子组和全基因组测序扩展先天性中性粒细胞减少症的表型和遗传图谱

Marti, Séverine; Pellet, Philippe; Beaupain, Blandine; Durix, Léa; Buratti, Julien; Réguerre, Yves; Aladjidi, Nathalie; Azarnoush, Saba; Clauin, Severine; Chahla, Wahid Abou; Blaison, Gilles; Bertand, Jeremy; Bodet, Damien; Brethon, Benoit; Chane-Teng, Jessica; Delafoy, Manon; Dupraz, Chrystelle; Gandemer, Virginie; Denizeau, Philippe; Goldenberg, Alice; Hirsch, Pierre; l'Haridon, Anaïs; Marie-Cardine, Aude; Vera, Gabriella; Nelken, Brigitte; Nizery, Laure; Nolla, Marie; Pasquet, Marlène; Rosain, Jérémie; Terriou, Louis; Plo, Isabelle; Donadieu, Jean; Bellanné-Chantelot, Christine

Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP

32例JAGN1缺陷患者的扩展临床表型和治疗方式:ESID和EBMT IEWP的多中心研究

Fekadu-Siebald, Julia; Salzmann-Manrique, Emilia; Heusel, Jan Robert; Willasch, Andre; Hauck, Fabian; Gonzalez-Granado, Luis Ignacio; Chavoshzadeh, Zahra; Sharafian, Samin; Cuntz, Franziska; Baris, Safa; Finocchi, Andrea; Algeri, Mattia; Sherkat, Roya; Klaudel-Dreszler, Maja; Zeidler, Cornelia; Bellanné-Chantelot, Christine; Kindle, Gerhard; Beaupain, Blandine; Paillard, Catherine; Seidel, Markus; Bader, Peter; Albert, Michael H; Neven, Bénédicte; Donadieu, Jean; Bakhtiar, Shahrzad

Characterization and treatment outcomes of malignant histiocytoses in a retrospective series of 141 cases in France

法国141例恶性组织细胞增生症回顾性病例系列研究的特征及治疗结果

Bigenwald, Camille; Roos-Weil, Damien; Pagès, Arnaud; Hélias-Rodzewicz, Zofia; Copie-Bergman, Christiane; Nashvi, Marzieh; Khneisser, Pierre; Parrens, Marie; Traverse-Glehen, Alexandra; Ray-Coquard, Isabelle; Ysebaert, Loïc; Marchand, Tony; Razanamahery, Jérôme; Charlotte, Frédéric; Neel, Antoine; Damaj, Gandhi; Dion, Jérémie; Nazal-Traissac, Eve-Marie; Tardy, Stéphanie; Salmeron, Géraldine; Monjanel, Hélène; Idbaih, Ahmed; Héritier, Sébastien; Haroche, Julien; Donadieu, Jean; Emile, Jean-François

NTRK1-rearranged histiocytosis: clinicopathologic and molecular features

NTRK1重排组织细胞增生症:临床病理及分子特征

Fragneau, Rivers; Fraitag, Sylvie; Kemps, Paul G; Hélias-Rodzewicz, Zofia; Roy, Somak; Bonsang, Benjamin; Bartlett, Allison L; Dhar, Subhra; Jankofsky, Martin; Zlocha, Jozef; Svojgr, Karel; Krsková, Lenka; de Vries, Andrica C H; Verdijk, Robert M; van Laar, Jan A M; Leguit, Roos J; Drabent, Philippe; Carlsen, Eric D; Ho, Jonhan; Karunamurthy, Arivarasan D; Santi, Mariarita; Jullié, Marie-Laure; Babor, Florian; Lorsbach, Robert; van Halteren, Astrid G S; Héritier, Sébastien; Diamond, Eli L; Durham, Benjamin H; Kumar, Ashish R; Bhattacharya, Arunaloke; Haroche, Julien; Donadieu, Jean; Borkhardt, Arndt; Picarsic, Jennifer L; Emile, Jean-François

Clinicopathologic Features and the Spectrum of Myelokathexis in Warts, Hypogammaglobulinemia, Infections, Myelokathexis Syndrome

临床病理特征及脊髓滞留谱系:疣、低丙种球蛋白血症、感染、脊髓滞留综合征

Li, Jingwei; Delecourt-Billet, Marine; Fenneteau, Odile; Neff, Jadee L; Roland, Lilian; Schell, Bérénice; Gourhand, Vanessa; Espeli, Marion; Balabanian, Karl; Taplin, Sarah; Defontis, Myriam; Nguyen, Chi Huu; Mordhorst, Julia; Johnson, Robert; Taveras, Arthur; Geier, Christoph B; Schuetz, Catharina; Thiede, Christian; Yilmaz, Melis; Sakovich, Inga; Sharapova, Svetlana; Moschese, Viviana; Mauriello, Alessandro; Walter, Jolan E; Cavieres, Mirta; Akahane, Daigo; Mousallem, Talal; Li, Julie; Newburger, Peter E; Tarrant, Teresa K; Kelley, Merideth L; Bolyard, Audrey Anna; Dale, David C; Donadieu, Jean; Zmajkovicova, Katarina; Bledsoe, Jacob R