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

Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency

人类IL-21受体缺陷的基因组谱和表型异质性

Cagdas, Deniz; Mayr, Daniel; Baris, Safa; Worley, Lisa; Langley, David B; Metin, Ayse; Aytekin, Elif Soyak; Atan, Raziye; Kasap, Nurhan; Bal, Sevgi Köstel; Dmytrus, Jasmin; Heredia, Raul Jimenez; Karasu, Gulsun; Torun, Selda Hancerli; Toyran, Muge; Karakoc-Aydiner, Elif; Christ, Daniel; Kuskonmaz, Baris; Uçkan-Çetinkaya, Duygu; Uner, Aysegul; Oberndorfer, Felicitas; Schiefer, Ana-Iris; Uzel, Gulbu; Deenick, Elissa K; Keller, Baerbel; Warnatz, Klaus; Neven, Bénédicte; Durandy, Anne; Sanal, Ozden; Ma, Cindy S; Özen, Ahmet; Stepensky, Polina; Tezcan, Ilhan; Boztug, Kaan; Tangye, Stuart G

Genotoxic stress increases cytoplasmic mitochondrial DNA editing by human APOBEC3 mutator enzymes at a single cell level

基因毒性应激在单细胞水平上增加人APOBEC3突变酶对细胞质线粒体DNA的编辑。

Mussil, Bianka; Suspène, Rodolphe; Caval, Vincent; Durandy, Anne; Wain-Hobson, Simon; Vartanian, Jean-Pierre

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

Activation-Induced Cytidine Deaminase Expression in Human B Cell Precursors Is Essential for Central B Cell Tolerance

人类B细胞前体中活化诱导的胞苷脱氨酶表达对于中枢B细胞耐受至关重要

Cantaert, Tineke; Schickel, Jean-Nicolas; Bannock, Jason M; Ng, Yen-Shing; Massad, Christopher; Oe, Tyler; Wu, Renee; Lavoie, Aubert; Walter, Jolan E; Notarangelo, Luigi D; Al-Herz, Waleed; Kilic, Sara Sebnem; Ochs, Hans D; Nonoyama, Shigeaki; Durandy, Anne; Meffre, Eric

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

Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

活化磷脂酰肌醇3-激酶δ综合征患者中B细胞淋巴瘤的发生

Kracker, Sven; Curtis, James; Ibrahim, Mohammad A A; Sediva, Anna; Salisbury, Jon; Campr, Vit; Debré, Marianne; Edgar, J David M; Imai, Kohsuke; Picard, Capucine; Casanova, Jean-Laurent; Fischer, Alain; Nejentsev, Sergey; Durandy, Anne

The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency

CARD11-BCL10-MALT1 (CBM) 信号体复合物:成为人类原发性免疫缺陷的焦点

Turvey, Stuart E; Durandy, Anne; Fischer, Alain; Fung, Shan-Yu; Geha, Raif S; Gewies, Andreas; Giese, Thomas; Greil, Johann; Keller, Bärbel; McKinnon, Margaret L; Neven, Bénédicte; Rozmus, Jacob; Ruland, Jürgen; Snow, Andrew L; Stepensky, Polina; Warnatz, Klaus

Immunoglobulin class-switch recombination deficiencies

免疫球蛋白类别转换重组缺陷

Durandy, Anne; Kracker, Sven

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey

常染色体显性STAT3缺乏症和高IgE综合征:一项法国全国性调查的分子、细胞和临床特征

Chandesris, Marie-Olivia; Melki, Isabelle; Natividad, Angels; Puel, Anne; Fieschi, Claire; Yun, Ling; Thumerelle, Caroline; Oksenhendler, Eric; Boutboul, David; Thomas, Caroline; Hoarau, Cyrille; Lebranchu, Yvon; Stephan, Jean-Louis; Cazorla, Celine; Aladjidi, Nathalie; Micheau, Marguerite; Tron, François; Baruchel, André; Barlogis, Vincent; Palenzuela, Gilles; Mathey, Catherine; Dominique, Stéphane; Body, Gérard; Munzer, Martine; Fouyssac, Fanny; Jaussaud, Rolland; Bader-Meunier, Brigitte; Mahlaoui, Nizar; Blanche, Stéphane; Debré, Marianne; Le Bourgeois, Muriel; Gandemer, Virginie; Lambert, Nathalie; Grandin, Virginie; Ndaga, Stéphanie; Jacques, Corinne; Harre, Chantal; Forveille, Monique; Alyanakian, Marie-Alexandra; Durandy, Anne; Bodemer, Christine; Suarez, Felipe; Hermine, Olivier; Lortholary, Olivier; Casanova, Jean-Laurent; Fischer, Alain; Picard, Capucine

Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans.

活化诱导胞苷脱氨酶(AID)是人类B细胞耐受所必需的

Meyers Greta, Ng Yen-Shing, Bannock Jason M, Lavoie Aubert, Walter Jolan E, Notarangelo Luigi D, Kilic Sara S, Aksu Guzide, Debré Marianne, Rieux-Laucat Frédéric, Conley Mary Ellen, Cunningham-Rundles Charlotte, Durandy Anne, Meffre Eric