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

ORAI1 mutations abolishing store-operated Ca(2+) entry cause anhidrotic ectodermal dysplasia with immunodeficiency

ORAI1 基因突变导致储存操纵型 Ca(2+) 内流消失,从而引起无汗型外胚层发育不良伴免疫缺陷。

Lian, Jayson; Cuk, Mario; Kahlfuss, Sascha; Kozhaya, Lina; Vaeth, Martin; Rieux-Laucat, Frédéric; Picard, Capucine; Benson, Melina J; Jakovcevic, Antonia; Bilic, Karmen; Martinac, Iva; Stathopulos, Peter; Kacskovics, Imre; Vraetz, Thomas; Speckmann, Carsten; Ehl, Stephan; Issekutz, Thomas; Unutmaz, Derya; Feske, Stefan

Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies

患有严重遗传性免疫缺陷的患者血小板功能受损程度不一

Nagy, Magdolna; Mastenbroek, Tom G; Mattheij, Nadine J A; de Witt, Susanne; Clemetson, Kenneth J; Kirschner, Janbernd; Schulz, Ansgar S; Vraetz, Thomas; Speckmann, Carsten; Braun, Attila; Cosemans, Judith M E M; Zieger, Barbara; Heemskerk, Johan W M

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations

对29例IKBKG/NEMO低活性突变半合子患者进行造血干细胞移植

Miot, Charline; Imai, Kohsuke; Imai, Chihaya; Mancini, Anthony J; Kucuk, Zeynep Yesim; Kawai, Tokomki; Nishikomori, Ryuta; Ito, Etsuro; Pellier, Isabelle; Dupuis Girod, Sophie; Rosain, Jeremie; Sasaki, Shinya; Chandrakasan, Shanmuganathan; Pachlopnik Schmid, Jana; Okano, Tsubasa; Colin, Estelle; Olaya-Vargas, Alberto; Yamazaki-Nakashimada, Marco; Qasim, Waseem; Espinosa Padilla, Sara; Jones, Andrea; Krol, Alfons; Cole, Nyree; Jolles, Stephen; Bleesing, Jack; Vraetz, Thomas; Gennery, Andrew R; Abinun, Mario; Güngör, Tayfun; Costa-Carvalho, Beatriz; Condino-Neto, Antonio; Veys, Paul; Holland, Steven M; Uzel, Gulbu; Moshous, Despina; Neven, Benedicte; Blanche, Stéphane; Ehl, Stephan; Döffinger, Rainer; Patel, Smita Y; Puel, Anne; Bustamante, Jacinta; Gelfand, Erwin W; Casanova, Jean-Laurent; Orange, Jordan S; Picard, Capucine

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis

重度联合免疫缺陷患者自然史的前瞻性研究:中期分析

Speckmann, Carsten; Doerken, Sam; Aiuti, Alessandro; Albert, Michael H; Al-Herz, Waleed; Allende, Luis M; Scarselli, Alessia; Avcin, Tadej; Perez-Becker, Ruy; Cancrini, Caterina; Cant, Andrew; Di Cesare, Silvia; Finocchi, Andrea; Fischer, Alain; Gaspar, H Bobby; Ghosh, Sujal; Gennery, Andrew; Gilmour, Kimberly; González-Granado, Luis I; Martinez-Gallo, Monica; Hambleton, Sophie; Hauck, Fabian; Hoenig, Manfred; Moshous, Despina; Neven, Benedicte; Niehues, Tim; Notarangelo, Luigi; Picard, Capucine; Rieber, Nikolaus; Schulz, Ansgar; Schwarz, Klaus; Seidel, Markus G; Soler-Palacin, Pere; Stepensky, Polina; Strahm, Brigitte; Vraetz, Thomas; Warnatz, Klaus; Winterhalter, Christine; Worth, Austen; Fuchs, Sebastian; Uhlmann, Annette; Ehl, Stephan

Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation

噬血细胞性淋巴组织细胞增生症是ORAI1基因突变引起的重度联合免疫缺陷的首发表现。

Klemann, Christian; Ammann, Sandra; Heizmann, Miriam; Fuchs, Sebastian; Bode, Sebastian F; Heeg, Maximilian; Fuchs, Hans; Lehmberg, Kai; Zur Stadt, Udo; Roll, Claudia; Vraetz, Thomas; Speckmann, Carsten; Lorenz, Myriam Ricarda; Schwarz, Klaus; Rohr, Jan; Feske, Stefan; Ehl, Stephan

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

原发性免疫缺陷中的噬血细胞性淋巴组织细胞增生症:对鉴别诊断和发病机制的启示

Bode, Sebastian Fn; Ammann, Sandra; Al-Herz, Waleed; Bataneant, Mihaela; Dvorak, Christopher C; Gehring, Stephan; Gennery, Andrew; Gilmour, Kimberly C; Gonzalez-Granado, Luis I; Groß-Wieltsch, Ute; Ifversen, Marianne; Lingman-Framme, Jenny; Matthes-Martin, Susanne; Mesters, Rolf; Meyts, Isabelle; van Montfrans, Joris M; Pachlopnik Schmid, Jana; Pai, Sung-Yun; Soler-Palacin, Pere; Schuermann, Uta; Schuster, Volker; Seidel, Markus G; Speckmann, Carsten; Stepensky, Polina; Sykora, Karl-Walter; Tesi, Bianca; Vraetz, Thomas; Waruiru, Catherine; Bryceson, Yenan T; Moshous, Despina; Lehmberg, Kai; Jordan, Michael B; Ehl, Stephan

Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis

噬血细胞性淋巴组织细胞增生症诊断和治疗的最新进展

Bode, Sebastian Fn; Lehmberg, Kai; Maul-Pavicic, Andrea; Vraetz, Thomas; Janka, Gritta; Stadt, Udo Zur; Ehl, Stephan

Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency.

基质相互作用分子 1 缺乏症患者的抗病毒和调节性 T 细胞免疫

Fuchs Sebastian, Rensing-Ehl Anne, Speckmann Carsten, Bengsch Bertram, Schmitt-Graeff Annette, Bondzio Ilka, Maul-Pavicic Andrea, Bass Thilo, Vraetz Thomas, Strahm Brigitte, Ankermann Tobias, Benson Melina, Caliebe Almuth, Fölster-Holst Regina, Kaiser Petra, Thimme Robert, Schamel Wolfgang W, Schwarz Klaus, Feske Stefan, Ehl Stephan

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

由UNC13D和STXBP2基因突变引起的非典型家族性噬血细胞性淋巴组织细胞增生症与原发性免疫缺陷病存在重叠。

Rohr, Jan; Beutel, Karin; Maul-Pavicic, Andrea; Vraetz, Thomas; Thiel, Jens; Warnatz, Klaus; Bondzio, Ilka; Gross-Wieltsch, Ute; Schündeln, Michael; Schütz, Barbara; Woessmann, Wilhelm; Groll, Andreas H; Strahm, Brigitte; Pagel, Julia; Speckmann, Carsten; Janka, Gritta; Griffiths, Gillian; Schwarz, Klaus; zur Stadt, Udo; Ehl, Stephan

Interferon-gamma sensitizes resistant Ewing's sarcoma cells to tumor necrosis factor apoptosis-inducing ligand-induced apoptosis by up-regulation of caspase-8 without altering chemosensitivity

干扰素-γ通过上调caspase-8,使耐药的尤文氏肉瘤细胞对肿瘤坏死因子凋亡诱导配体诱导的细胞凋亡更加敏感,而不改变其化疗敏感性。

Lissat, Andrej; Vraetz, Thomas; Tsokos, Maria; Klein, Ruth; Braun, Matthias; Koutelia, Nino; Fisch, Paul; Romero, Maria E; Long, Lauren; Noellke, Peter; Mackall, Crystal L; Niemeyer, Charlotte M; Kontny, Udo