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

Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency

来自有症状的携带者姐妹的移植可恢复宿主的防御能力,但无法预防 NEMO 缺乏症引起的结肠炎

Christian Klemann, Ulrich Pannicke, Deborah J Morris-Rosendahl, Katerina Vlantis, Marta Rizzi, Holm Uhlig, Thomas Vraetz, Carsten Speckmann, Brigitte Strahm, Manolis Pasparakis, Klaus Schwarz, Stephan Ehl, Jan C Rohr

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Omenn 综合征与因 CARD11 缺陷的体细胞第二位点突变导致的功能逆转有关

Sebastian Fuchs, Anne Rensing-Ehl, Ulrich Pannicke, Myriam R Lorenz, Paul Fisch, Yogesh Jeelall, Jan Rohr, Carsten Speckmann, Thomas Vraetz, Susan Farmand, Annette Schmitt-Graeff, Marcus Krüger, Brigitte Strahm, Philipp Henneke, Anselm Enders, Keisuke Horikawa, Christopher Goodnow, Klaus Schwarz, St

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