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

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

Azathioprine or mycophenolate mofetil for pediatric autoimmune cytopenia: a propensity score-matched study

硫唑嘌呤或吗替麦考酚酯治疗儿童自身免疫性血细胞减少症:一项倾向评分匹配研究

Pincez, Thomas; Fernandes, Helder; Leverger, Guy; Barlogis, Vincent; Fahd, Mony; Garnier, Nathalie; Paillard, Catherine; Guitton, Corinne; Abou Chahla, Wadih; Pasquet, Marlène; Jeziorski, Eric; Castelle, Martin; Bayart, Sophie; Pellier, Isabelle; Thomas, Caroline; Pagnier, Anne; Benadiba, Joy; Li Thiao Te, Valérie; Cheikh, Nathalie; Lejeune, Julien; Deparis, Marianna; Marie-Cardine, Aude; Chastagner, Pascal; Desplantes, Claire; Millot, Frédéric; Vic, Philippe; Thouvenin, Sandrine; Piguet, Christophe; Pluchart, Claire; Leblanc, Thierry; Héritier, Sébastien; Aladjidi, Nathalie

Homozygosity for rare or common hypomorphic IL23R variants confers a predisposition to tuberculosis in humans

人类携带罕见或常见的低活性IL23R变异纯合子会增加患结核病的易感性。

Calderón, Diana Olguín; Kilpatrick, Laura E; Conil, Clément; Philippot, Quentin; Ogishi, Masato; Vellutini, Joseph; Han, Ji Eun; Keating, Narelle; Li, Hailun; Rao, Geetha; Bohlen, Jonathan; Lay, Charles S; Platt, Simon; Kerner, Gaspard; Feredj, Elsa; Peel, Jessica N; Momenilandi, Mana; Seeleuthner, Yoann; Lainé, Candice; Soudée, Camille; Leloup, Claire; Debuisson, Cecile; Lanternier, Fanny; Bitoun, Samuel; Pavy, Stephan; Mariette, Xavier; Rafik, Aniss; Skhoun, Hanaa; El Ouazzani, Hanane; Abderahmani-Ghorfi, Ismail; El-Bagdadi, Jamila; Baena, Andrés; Tejada-Giraldo, Manuela; Barrera, Luis Fernando; Arias, Andrés Augusto; Fabio, Giovanna; Carrabba, Maria; Emiroglu, Melike; Bezrodnik, Liliana; El Zein, Loubna; Hammoud, Hassan; Gregersen, Peter K; Terrier, Benjamin; Lopez, Rafael Leon; Touzet, Marion; Pestre, Vincent; Pasquet, Marlène; Rogge, Lars; Pasquet, Marlène; Fayon, Michael; Galode, François; Jeziorski, Eric; Duffy, Daragh; Quintana-Murci, Lluis; Patin, Etienne; Cunningham-Rundles, Charlotte; Meyts, Isabelle; Zhang, Shen-Ying; Zhang, Qian; Jouanguy, Emmanuelle; Boisson, Bertrand; Rosain, Jérémie; Béziat, Vivien; Shahrooei, Mohammad; Mahdaviani, Seyed Alireza; Rezaei, Nima; Parvaneh, Nima; Chavoshzadeh, Zahra; Yazdanpanah, Niloufar; Aladjidi, Nathalie; Noguera-Julian, Antoni; Esteve-Solé, Ana; Manrique, Laia Alsina; Mansouri, Davood; Keles, Sevgi; Ortakoylu, Mediha Gonenc; Aygun, Deniz; Yucel, Esra; Kiykim, Ayca; Camcioglu, Yildiz; Ma, Cindy S; Tangye, Stuart G; Zhang, Peng; Abel, Laurent; Craggs, Peter D; Casanova, Jean-Laurent; Cobat, Aurélie; Puel, Anne; Bustamante, Jacinta; Hill, Stephen J; Boisson-Dupuis, Stéphanie

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

Human inherited CCR2 deficiency underlies progressive polycystic lung disease

人类遗传性CCR2缺陷是进行性多囊肺病的基础。

Anna-Lena Neehus ,Brenna Carey ,Marija Landekic ,Patricia Panikulam ,Gail Deutsch ,Masato Ogishi ,Carlos A Arango-Franco ,Quentin Philippot ,Mohammadreza Modaresi ,Iraj Mohammadzadeh ,Melissa Corcini Berndt ,Darawan Rinchai ,Tom Le Voyer ,Jérémie Rosain ,Mana Momenilandi ,Marta Martin-Fernandez ,Taushif Khan ,Jonathan Bohlen ,Ji Eun Han ,Alexandre Deslys ,Mathilde Bernard ,Tania Gajardo-Carrasco ,Camille Soudée ,Corentin Le Floc'h ,Mélanie Migaud ,Yoann Seeleuthner ,Mi-Sun Jang ,Eirini Nikolouli ,Simin Seyedpour ,Hugues Begueret ,Jean-François Emile ,Pierre Le Guen ,Guido Tavazzi ,Costanza Natalia Julia Colombo ,Federico Capra Marzani ,Micol Angelini ,Francesca Trespidi ,Stefano Ghirardello ,Nasrin Alipour ,Anne Molitor ,Raphael Carapito ,Mohsen Mazloomrezaei ,Hassan Rokni-Zadeh ,Majid Changi-Ashtiani ,Chantal Brouzes ,Pablo Vargas ,Alessandro Borghesi ,Nico Lachmann ,Seiamak Bahram ,Bruno Crestani ,Michael Fayon ,François Galode ,Susanta Pahari ,Larry S Schlesinger ,Nico Marr ,Dusan Bogunovic ,Stéphanie Boisson-Dupuis ,Vivien Béziat ,Laurent Abel ,Raphael Borie ,Lisa R Young ,Robin Deterding ,Mohammad Shahrooei ,Nima Rezaei ,Nima Parvaneh ,Daniel Craven ,Philippe Gros ,Danielle Malo ,Fernando E Sepulveda ,Lawrence M Nogee ,Nathalie Aladjidi ,Bruce C Trapnell ,Jean-Laurent Casanova ,Jacinta Bustamante

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation

RAC2功能获得性变异导致先天性免疫缺陷,进而激活NLRP3炎症小体。

Anne Doye #,Paul Chaintreuil #,Chantal Lagresle-Peyrou #,Ludovic Batistic,Valentine Marion,Patrick Munro,Celine Loubatier,Rayana Chirara,Nataël Sorel,Boris Bessot,Pauline Bronnec,Julie Contenti,Johan Courjon,Valerie Giordanengo,Arnaud Jacquel,Pascal Barbry,Marie Couralet,Nathalie Aladjidi,Alain Fischer,Marina Cavazzana,Coralie Mallebranche,Orane Visvikis,Sven Kracker,Despina Moshous,Els Verhoeyen,Laurent Boyer

Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus

PTPN2基因单倍体不足会导致从埃文斯综合征到狼疮等早期发作的系统性自身免疫性疾病。

Marie Jeanpierre # ,Jade Cognard # ,Maud Tusseau ,Quentin Riller ,Linh-Chi Bui ,Jérémy Berthelet ,Audrey Laurent ,Etienne Crickx ,Marianna Parlato ,Marie-Claude Stolzenberg ,Felipe Suarez ,Guy Leverger ,Nathalie Aladjidi ,Sophie Collardeau-Frachon ,Christine Pietrement ,Marion Malphettes ,Antoine Froissart ,Christine Bole-Feysot ,Nicolas Cagnard ,Fernando Rodrigues Lima ,Thierry Walzer ,Frédéric Rieux-Laucat # ,Alexandre Belot # ,Anne-Laure Mathieu #

Sustained remission at long term follow-up in adolescents and young adults with chronic primary immune thrombocytopenia

长期随访中,慢性原发性免疫性血小板减少症青少年和青年患者的病情持续缓解

Schifferli, Alexandra; Le Gavrian, Gautier; Aladjidi, Nathalie; Moulis, Guillaume; Godeau, Bertrand; Leblanc, Thierry; Héritier, Sébastien; Fernandes, Helder; Kühne, Thomas

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

人类替代性NF-κB通路缺陷中针对I型干扰素的自身抗体

Tom Le Voyer ,Audrey V Parent # ,Xian Liu # ,Axel Cederholm # ,Adrian Gervais ,Jérémie Rosain ,Tina Nguyen ,Malena Perez Lorenzo ,Elze Rackaityte ,Darawan Rinchai ,Peng Zhang ,Lucy Bizien ,Gonca Hancioglu ,Pascale Ghillani-Dalbin ,Jean-Luc Charuel ,Quentin Philippot ,Mame Sokhna Gueye ,Majistor Raj Luxman Maglorius Renkilaraj ,Masato Ogishi ,Camille Soudée ,Mélanie Migaud ,Flore Rozenberg ,Mana Momenilandi ,Quentin Riller ,Luisa Imberti ,Ottavia M Delmonte ,Gabriele Müller ,Baerbel Keller ,Julio Orrego ,William Alexander Franco Gallego ,Tamar Rubin ,Melike Emiroglu ,Nima Parvaneh ,Daniel Eriksson ,Maribel Aranda-Guillen ,David I Berrios ,Linda Vong ,Constance H Katelaris ,Peter Mustillo ,Johannes Raedler ,Jonathan Bohlen ,Jale Bengi Celik ,Camila Astudillo ,Sarah Winter ,Aurélien Guffroy ,Joseph L DeRisi ,David Yu ,Corey Miller ,Yi Feng ,Audrey Guichard ,Vivien Béziat ,Jacinta Bustamante ,Qiang Pan-Hammarström ,Yu Zhang ,Lindsey B Rosen ,Steve M Holland ,Marita Bosticardo ,Heather Kenney ,Riccardo Castagnoli ,Charlotte A Slade ,Kaan Boztuğ ,Nizar Mahlaoui ,Sylvain Latour ,Roshini S Abraham ,Vassilios Lougaris ,Fabian Hauck ,Anna Sediva ,Faranaz Atschekzei ,Georgios Sogkas ,M Cecilia Poli ,Mary A Slatter ,Boaz Palterer ,Michael D Keller ,Alberto Pinzon-Charry ,Anna Sullivan ,Luke Droney ,Daniel Suan ,Melanie Wong ,Alisa Kane ,Hannah Hu ,Cindy Ma ,Hana Grombiříková ,Peter Ciznar ,Ilan Dalal ,Nathalie Aladjidi ,Miguel Hie ,Estibaliz Lazaro ,Jose Franco ,Sevgi Keles ,Marion Malphettes ,Marlene Pasquet ,Maria Elena Maccari ,Andrea Meinhardt ,Aydan Ikinciogullari ,Mohammad Shahrooei ,Fatih Celmeli ,Patrick Frosk ,Christopher C Goodnow ,Paul E Gray ,Alexandre Belot ,Hye Sun Kuehn ,Sergio D Rosenzweig ,Makoto Miyara ,Francesco Licciardi ,Amélie Servettaz ,Vincent Barlogis ,Guillaume Le Guenno ,Vera-Maria Herrmann ,Taco Kuijpers ,Grégoire Ducoux ,Françoise Sarrot-Reynauld ,Catharina Schuetz ,Charlotte Cunningham-Rundles ,Frédéric Rieux-Laucat ,Stuart G Tangye ,Cristina Sobacchi ,Rainer Doffinger ,Klaus Warnatz ,Bodo Grimbacher ,Claire Fieschi ,Laureline Berteloot ,Vanessa L Bryant ,Sophie Trouillet Assant ,Helen Su ,Benedicte Neven ,Laurent Abel ,Qian Zhang ,Bertrand Boisson ,Aurélie Cobat ,Emmanuelle Jouanguy ,Olle Kampe ,Paul Bastard ,Chaim M Roifman ,Nils Landegren ,Luigi D Notarangelo ,Mark S Anderson ,Jean-Laurent Casanova ,Anne Puel

Clinical, Radiologic, and Immunologic Features of Patients With CTLA4 Deficiency With Neurologic Involvement

CTLA4缺陷伴神经系统受累患者的临床、放射学和免疫学特征

Coustal, Cyrille; Goulabchand, Radjiv; Labauge, Pierre; Guilpain, Philippe; Carra-Dallière, Clarisse; Januel, Edouard; Jeziorski, Eric; Salle, Valery; Viallard, Jean-François; Boutboul, David; Fieschi, Claire; Gobert, Delphine; Aladjidi, Nathalie; Rullier, Patricia; Graveleau, Julie; Piel-Julian, Marie; Suarez, Felipe; Neven, Benedicte; Mahlaoui, Nizar; Ayrignac, Xavier