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

Case Report: Activated PI3-kinase-δ syndrome and ovarian malignancies: a case series from the European ESID-APDS registry

病例报告:活化型PI3激酶δ综合征与卵巢恶性肿瘤:来自欧洲ESID-APDS登记处的一系列病例

Esposto, Maria Pia; Mahlaoui, Nizar; Abolhassani, Hassan; Van Aerde, Koen; Cesaro, Simone; Chandra, Anita; Ehl, Stephan; Kracker, Sven; Suarez, Felipe; Barlogis, Vincent; Parisi, Alice; Maccari, Maria Elena; Chinello, Matteo

Comparative efficacy of leniolisib (CDZ173) versus standard of care on rates of respiratory tract infection and serum immunoglobulin M (IgM) levels among individuals with activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): an externally controlled study

一项外部对照研究比较了 leniolisib (CDZ173) 与标准疗法对活化磷脂酰肌醇 3-激酶 δ (PI3Kδ) 综合征 (APDS) 患者呼吸道感染率和血清免疫球蛋白 M (IgM) 水平的影响:一项外部对照研究

Whalen, John; Chandra, Anita; Kracker, Sven; Ehl, Stephan; Seidel, Markus G; Gulas, Ioana; Dron, Louis; Velummailum, Russanthy; Nagamuthu, Chenthila; Liu, Sichen; Tutein Nolthenius, Joanne; Maccari, Maria Elena

A heterozygous USB1 variant linked to immunodeficiency

一种与免疫缺陷相关的USB1杂合变异

Alice Valagussa,Nidia Moreno-Corona,Chantal Lagresle-Peyrou,Sara Mercurio,Margot Tragin,Nicolas Goudin,Mélanie Parisot,Monica Beltrame,Despina Moshous,Sven Kracker

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

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

A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome

AICDA 中的一种新型杂合变异会损害人类 B 细胞中的免疫球蛋白类别转换和体细胞超突变,并与常染色体显性 HIGM2 综合征有关

Erika Della Mina, Katherine J L Jackson, Alexander J I Crawford, Megan L Faulks, Karrnan Pathmanandavel, Nicolino Acquarola, Michael O'Sullivan, Tessa Kerre, Leslie Naesens, Karlien Claes, Christopher C Goodnow, Filomeen Haerynck, Sven Kracker, Isabelle Meyts, Lloyd J D'Orsogna #, Cindy S Ma #, Stua

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency

IRF4基因的多态性突变导致人类常染色体显性联合免疫缺陷病

IRF4 International Consortium , Alicia Jia, Hye Sun Kuehn, Qing Min, Ulrich Pannicke, Nikolai Schleussner, Romane Thouenon, Zhijia Yu, María de Los Angeles Astbury, Catherine M Biggs, Miguel Galicchio, Jorge Alberto Garcia-Campos, Silvina Gismondi, Guadalupe Gonzalez Villarreal, Kyla J Hildebrand, Manfred Hönig, Jia Hou, Despina Moshous, Stefania Pittaluga, Xiaowen Qian, Jacob Rozmus, Ansgar S Schulz, Aidé Tamara Staines-Boone, Bijun Sun, Jinqiao Sun, Schauer Uwe, Edna Venegas-Montoya, Wenjie Wang, Xiaochuan Wang, Wenjing Ying, Xiaowen Zhai, Qinhua Zhou, Altuna Akalin, Isabelle André, Thomas F E Barth, Bernd Baumann, Anne Brüstle, Gaetan Burgio, Jacinta C Bustamante, Jean-Laurent Casanova, Marco G Casarotto, Marina Cavazzana, Loïc Chentout, Ian A Cockburn, Mariantonia Costanza, Chaoqun Cui, Oliver Daumke, Kate L Del Bel, Hermann Eibel, Xiaoqian Feng, Vedran Franke, J Christof M Gebhardt, Andrea Götz, Stephan Grunwald, Bénédicte Hoareau, Timothy R Hughes, Eva-Maria Jacobsen, Martin Janz, Arttu Jolma, Chantal Lagresle-Peyrou, Nannan Lai, Yaxuan Li, Susan Lin, Henry Y Lu, Saul O Lugo-Reyes, Xin Meng, Peter Möller, Nidia Moreno-Corona, Julie E Niemela, Gherman Novakovsky, Jareb J Perez-Caraballo, Capucine Picard, Lucie Poggi, Maria-Emilia Puig-Lombardi, Katrina L Randall, Anja Reisser, Yohann Schmitt, Sandali Seneviratne, Mehul Sharma, Jennifer Stoddard, Srinivasan Sundararaj, Harry Sutton, Linh Q Tran, Ying Wang, Wyeth W Wasserman, Zichao Wen, Wiebke Winkler, Ermeng Xiong, Ally W H Yang, Meiping Yu, Lumin Zhang, Hai Zhang, Qian Zhao, Xin Zhen, Anselm Enders, Sven Kracker, Ruben Martinez-Barricarte, Stephan Mathas, Sergio D Rosenzweig, Klaus Schwarz, Stuart E Turvey, Ji-Yang Wang

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency

IRF4干扰素激活结构域的新功能突变会导致显性原发性免疫缺陷

Romane Thouenon ,Loïc Chentout ,Nidia Moreno-Corona ,Lucie Poggi ,Emilia Puig Lombardi ,Benedicte Hoareau ,Yohann Schmitt ,Chantal Lagresle-Peyrou ,Jacinta Bustamante ,Isabelle André ,Marina Cavazzana ,Anne Durandy ,Jean-Laurent Casanova ,Lionel Galicier ,Jehane Fadlallah ,Alain Fischer ,Sven Kracker

Human inborn errors of immunity associated with IRF4

与IRF4相关的先天性免疫缺陷

Thouenon, Romane; Kracker, Sven

Rescuing the cytolytic function of APDS1 patient T cells via TALEN-mediated PIK3CD gene correction

通过 TALEN 介导的 PIK3CD 基因校正挽救 APDS1 患者 T 细胞的细胞溶解功能

Lucie Poggi, Loïc Chentout, Sabrina Lizot, Alex Boyne, Alexandre Juillerat, Arianna Moiani, Marine Luka, Francesco Carbone, Mickael Ménager, Marina Cavazzana, Philippe Duchateau, Julien Valton, Sven Kracker