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

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

Human inborn errors of immunity associated with IRF4

与IRF4相关的先天性免疫缺陷

Thouenon, Romane; Kracker, Sven

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

活化磷脂酰肌醇3-激酶δ综合征的疾病进展及对雷帕霉素的反应:欧洲免疫缺陷协会-活化磷脂酰肌醇3-激酶δ综合征登记研究

Maccari, Maria Elena; Abolhassani, Hassan; Aghamohammadi, Asghar; Aiuti, Alessandro; Aleinikova, Olga; Bangs, Catherine; Baris, Safa; Barzaghi, Federica; Baxendale, Helen; Buckland, Matthew; Burns, Siobhan O; Cancrini, Caterina; Cant, Andrew; Cathébras, Pascal; Cavazzana, Marina; Chandra, Anita; Conti, Francesca; Coulter, Tanya; Devlin, Lisa A; Edgar, J David M; Faust, Saul; Fischer, Alain; Garcia-Prat, Marina; Hammarström, Lennart; Heeg, Maximilian; Jolles, Stephen; Karakoc-Aydiner, Elif; Kindle, Gerhard; Kiykim, Ayca; Kumararatne, Dinakantha; Grimbacher, Bodo; Longhurst, Hilary; Mahlaoui, Nizar; Milota, Tomas; Moreira, Fernando; Moshous, Despina; Mukhina, Anna; Neth, Olaf; Neven, Benedicte; Nieters, Alexandra; Olbrich, Peter; Ozen, Ahmet; Pachlopnik Schmid, Jana; Picard, Capucine; Prader, Seraina; Rae, William; Reichenbach, Janine; Rusch, Stephan; Savic, Sinisa; Scarselli, Alessia; Scheible, Raphael; Sediva, Anna; Sharapova, Svetlana O; Shcherbina, Anna; Slatter, Mary; Soler-Palacin, Pere; Stanislas, Aurelie; Suarez, Felipe; Tucci, Francesca; Uhlmann, Annette; van Montfrans, Joris; Warnatz, Klaus; Williams, Anthony Peter; Wood, Phil; Kracker, Sven; Condliffe, Alison Mary; Ehl, Stephan

Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)

p110δ 衔接蛋白结合域及其相关连接区的突变会导致活化 PI3K-δ 综合征 1 (APDS1)

Heurtier, Lucie; Lamrini, Hicham; Chentout, Loïc; Deau, Marie-Céline; Bouafia, Amine; Rosain, Jérémie; Plaza, Jean-Marc; Parisot, Mélanie; Dumont, Benoit; Turpin, Delphine; Merlin, Etienne; Moshous, Despina; Aladjidi, Nathalie; Neven, Bénédicte; Picard, Capucine; Cavazzana, Marina; Fischer, Alain; Durandy, Anne; Stephan, Jean-Louis; Kracker, Sven

IgG1 Is Required for Optimal Protection after Immunization with the Purified Porin OmpD from Salmonella Typhimurium

用纯化的鼠伤寒沙门氏菌孔蛋白OmpD进行免疫后,IgG1是获得最佳保护所必需的。

Zhang, Yang; Dominguez-Medina, Coral; Cumley, Nicola J; Heath, Jennifer N; Essex, Sarah J; Bobat, Saeeda; Schager, Anna; Goodall, Margaret; Kracker, Sven; Buckley, Christopher D; May, Robin C; Kingsley, Robert A; MacLennan, Calman A; López-Macías, Constantino; Cunningham, Adam F; Toellner, Kai-Michael

A human immunodeficiency caused by mutations in the PIK3R1 gene

由PIK3R1基因突变引起的人类免疫缺陷

Deau, Marie-Céline; Heurtier, Lucie; Frange, Pierre; Suarez, Felipe; Bole-Feysot, Christine; Nitschke, Patrick; Cavazzana, Marina; Picard, Capucine; Durandy, Anne; Fischer, Alain; Kracker, Sven

Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation

携带 CARD11 C49Y 突变的患者出现轻度 B 细胞淋巴细胞增多症

Buchbinder, David; Stinson, Jeffrey R; Nugent, Diane J; Heurtier, Lucie; Suarez, Felipe; Sukumar, Gauthaman; Dalgard, Clifton L; Masson, Cécile; Parisot, Mélanie; Zhang, Yu; Matthews, Helen F; Su, Helen C; Durandy, Anne; Fischer, Alain; Kracker, Sven; Snow, Andrew L

Hyper-activated PI3K-δ in immunodeficiency

免疫缺陷中的PI3K-δ过度激活

Heurtier, Lucie; Deau, Marie-Céline; Kracker, Sven