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

Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program

TREC新生儿筛查中的综合征性先天性免疫缺陷:德国筛查项目的5年经验

Graafen, Lea; Speckmann, Carsten; Bakhtiar, Shahrzad; Bernuth, Horst V; Lehmberg, Kai; Bader, Peter; Baumann, Ulrich; Beier, Rita; Borte, Stephan; Brockow, Inken; Davies, E Graham; Hartmann, Maximilian; Holzer, Ursula; Klemann, Christian; Kreins, Alexandra Y; Krüger, Renate; Kontny, Udo; Laws, Hans-Jürgen; Meinhardt, Andrea; Morbach, Henner; Naumann-Bartsch, Nora; Rothoeft, Tobias; Schneider, Dominik T; Willasch, Andre; Worth, Austen; Seidel, Markus G; Albert, Michael H; Ehl, Stephan; Hauck, Fabian; Hönig, Manfred; Schulz, Ansgar; Schuetz, Catharina; Ghosh, Sujal

Autoantibodies against type I interferons correlate with low CD169/SIGLEC1 and severe non-viral infections in ER patients

ER患者中,针对I型干扰素的自身抗体与低CD169/SIGLEC1水平和严重的非病毒感染相关。

Staudacher, Olga; Meyer, Tim; Akbil, Bengisu; Mayer, Miriam; Schmoll, Carolin; Kölsch, Uwe; Unterwalder, Nadine; Slagman, Anna; Meisel, Christian; Goffinet, Christine; Möckel, Martin; von Bernuth, Horst

TGFβ links EBV to multisystem inflammatory syndrome in children.

TGFβ 将 EBV 与儿童多系统炎症综合征联系起来

Goetzke Carl Christoph, Massoud Mona, Frischbutter Stefan, Guerra Gabriela Maria, Ferreira-Gomes Marta, Heinrich Frederik, von Stuckrad Anne Sae Lim, Wisniewski Sebastian, Licha Jan Robin, Bondareva Marina, Ehlers Lisa, Khaldi-Plassart Samira, Javouhey Etienne, Pons Sylvie, Trouillet-Assant Sophie, Ozsurekci Yasemin, Zhang Yu, Poli Maria Cecilia, Discepolo Valentina, Lo Vecchio Andrea, Sahin Bengü, Verboom Murielle, Hallensleben Michael, Heuhsen Anja Isabelle, Astudillo Camila, Espinosa Yazmin, Vial Cox Maria Cecilia, Dobbs Kerry, Delmonte Ottavia M, Montealegre Sanchez Gina A, Magliocco Mary, Barron Karyl, Danielson Jeffrey, Petrov Lev, Unterwalder Nadine, Sawitzki Birgit, Matz Mareen, Lehmann Katrin, Gratopp Alexander, von Bernuth Horst, Burkhardt Lisa-Marie, Wiese Niklas, Peter Lena, Schmueck-Henneresse Michael, Amini Leila, Maurer Marcus, Roehmel Jobst Fridolin, Gewurz Benjamin E, Yonker Lael M, Witkowski Mario, Kruglov Andrey, Mall Marcus Alexander, Su Helen C, Ozen Seza, Radbruch Andreas, Belot Alexandre, Durek Pawel, Kallinich Tilmann, Mashreghi Mir-Farzin

High Incidence and Impact of Suspected Exocrine Pancreatic Insufficiency in Patients Post-Hematopoietic Stem Cell Transplantation: A Single-Center Prospective Observational Study

造血干细胞移植后患者疑似外分泌胰腺功能不全的高发生率及其影响:一项单中心前瞻性观察研究

Launspach, Michael; Mindermann, Aurika; Schulz, Joachim; Alasfar, Lina; Cyrull, Sandra; Zirngibl, Felix; Oevermann, Lena; Künkele, Annette; Deubzer, Hedwig E; von Bernuth, Horst; Pruß, Axel; Lang, Peter; Bufler, Philip; Eggert, Angelika; von Stackelberg, Arend; Schulte, Johannes H

Mold infections in chronic granulomatous disease patients-what comes to the rescue?

慢性肉芽肿病患者的霉菌感染——什么方法可以挽救?

von Bernuth, Horst; Güngör, Tayfun

Patterns of Perfusion of Free ALT Flaps vs. Propeller Flaps of the Lower Extremity: A Comparative Study with the Use of LDSP

下肢游离ALT皮瓣与螺旋桨皮瓣灌注模式的比较研究:基于LDSP的对比研究

Bernuth, Silvia; Niederegger, Tobias; Hundeshagen, Gabriel; Fuchs, Konrad; Meffert, Rainer H; Jakubietz, Rafael G

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

人类前TCRα缺陷的免疫病理学图谱:从罕见变异到常见变异

Marie Materna ,Ottavia M Delmonte # ,Marita Bosticardo # ,Mana Momenilandi # ,Peyton E Conrey # ,Bénédicte Charmeteau-De Muylder # ,Clotilde Bravetti # ,Rebecca Bellworthy # ,Axel Cederholm # ,Frederik Staels # ,Christian A Ganoza # ,Samuel Darko # ,Samir Sayed # ,Corentin Le Floc'h # ,Masato Ogishi # ,Darawan Rinchai # ,Andrea Guenoun # ,Alexandre Bolze # ,Taushif Khan # ,Adrian Gervais # ,Renate Krüger ,Mirjam Völler ,Boaz Palterer ,Mahnaz Sadeghi-Shabestari ,Anne Langlois de Septenville ,Chaim A Schramm ,Sanjana Shah ,John J Tello-Cajiao ,Francesca Pala ,Kayla Amini ,Jose S Campos ,Noemia Santana Lima ,Daniel Eriksson ,Romain Lévy ,Yoann Seeleuthner ,Soma Jyonouchi ,Manar Ata ,Fatima Al Ali ,Anna Stittrich ,Caroline Deswarte ,Anaïs Pereira ,Jérôme Mégret ,Tom Le Voyer ,Paul Bastard ,Laureline Berteloot ,Michaël Dussiot ,Natasha Vladikine ,Paula P Cardenas ,Emmanuelle Jouanguy ,Mashael Alqahtani ,Amal Hasan ,Thangavel Alphonse Thanaraj ,Jérémie Rosain ,Fahd Al Qureshah ,Vito Sabato ,Marie Alexandra Alyanakian ,Marianne Leruez-Ville ,Flore Rozenberg ,Elie Haddad ,Jose R Regueiro ,Maria L Toribio ,Judith R Kelsen ,Mansoor Salehi ,Shahram Nasiri ,Mehdi Torabizadeh ,Hassan Rokni-Zadeh ,Majid Changi-Ashtiani ,Nasimeh Vatandoost ,Hossein Moravej ,Seyed Mohammad Akrami ,Mohsen Mazloomrezaei ,Aurélie Cobat ,Isabelle Meyts ,Etsushi Toyofuku ,Madoka Nishimura ,Kunihiko Moriya ,Tomoyuki Mizukami ,Kohsuke Imai ,Laurent Abel ,Bernard Malissen ,Fahd Al-Mulla ,Fowzan Sami Alkuraya ,Nima Parvaneh ,Horst von Bernuth ,Christian Beetz ,Frédéric Davi ,Daniel C Douek # ,Rémi Cheynier # ,David Langlais # ,Nils Landegren # ,Nico Marr # ,Tomohiro Morio # ,Mohammad Shahrooei # ,Rik Schrijvers # ,Sarah E Henrickson # ,Hervé Luche # ,Luigi D Notarangelo # ,Jean-Laurent Casanova # ,Vivien Béziat #

LTβR deficiency causes lymph node aplasia and impaired B cell differentiation.

LTβR 缺乏会导致淋巴结发育不全和 B 细胞分化受损

Ransmayr Bernhard, Bal Sevgi Köstel, Thian Marini, Svaton Michael, van de Wetering Cheryl, Hafemeister Christoph, Segarra-Roca Anna, Block Jana, Frohne Alexandra, Krolo Ana, Altunbas Melek Yorgun, Bilgic-Eltan Sevgi, Kıykım Ayça, Aydiner Omer, Kesim Selin, Inanir Sabahat, Karakoc-Aydiner Elif, Ozen Ahmet, Aba Ümran, Çomak Aylin, Tuğcu Gökçen Dilşa, Pazdzior Robert, Huber Bettina, Farlik Matthias, Kubicek Stefan, von Bernuth Horst, Simonitsch-Klupp Ingrid, Rizzi Marta, Halbritter Florian, Tumanov Alexei V, Kraakman Michael J, Metin Ayşe, Castanon Irinka, Erman Baran, Baris Safa, Boztug Kaan

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

更正:罕见的I型干扰素免疫基因功能丧失预测变异与危及生命的COVID-19相关。

Matuozzo, Daniela; Talouarn, Estelle; Marchal, Astrid; Zhang, Peng; Manry, Jeremy; Seeleuthner, Yoann; Zhang, Yu; Bolze, Alexandre; Chaldebas, Matthieu; Milisavljevic, Baptiste; Gervais, Adrian; Bastard, Paul; Asano, Takaki; Bizien, Lucy; Barzaghi, Federica; Abolhassani, Hassan; Tayoun, Ahmad Abou; Aiuti, Alessandro; Darazam, Ilad Alavi; Allende, Luis M; Alonso-Arias, Rebeca; Arias, Andrés Augusto; Aytekin, Gokhan; Bergman, Peter; Bondesan, Simone; Bryceson, Yenan T; Bustos, Ingrid G; Cabrera-Marante, Oscar; Carcel, Sheila; Carrera, Paola; Casari, Giorgio; Chaïbi, Khalil; Colobran, Roger; Condino-Neto, Antonio; Covill, Laura E; Delmonte, Ottavia M; Zein, Loubna El; Flores, Carlos; Gregersen, Peter K; Gut, Marta; Haerynck, Filomeen; Halwani, Rabih; Hancerli, Selda; Hammarström, Lennart; Hatipoğlu, Nevin; Karbuz, Adem; Keles, Sevgi; Kyheng, Christèle; Leon-Lopez, Rafael; Franco, Jose Luis; Mansouri, Davood; Martinez-Picado, Javier; Akcan, Ozge Metin; Migeotte, Isabelle; Morange, Pierre-Emmanuel; Morelle, Guillaume; Martin-Nalda, Andrea; Novelli, Giuseppe; Novelli, Antonio; Ozcelik, Tayfun; Palabiyik, Figen; Pan-Hammarström, Qiang; de Diego, Rebeca Pérez; Planas-Serra, Laura; Pleguezuelo, Daniel E; Prando, Carolina; Pujol, Aurora; Reyes, Luis Felipe; Rivière, Jacques G; Rodriguez-Gallego, Carlos; Rojas, Julian; Rovere-Querini, Patrizia; Schlüter, Agatha; Shahrooei, Mohammad; Sobh, Ali; Soler-Palacin, Pere; Tandjaoui-Lambiotte, Yacine; Tipu, Imran; Tresoldi, Cristina; Troya, Jesus; van de Beek, Diederik; Zatz, Mayana; Zawadzki, Pawel; Al-Muhsen, Saleh Zaid; Alosaimi, Mohammed Faraj; Alsohime, Fahad M; Baris-Feldman, Hagit; Butte, Manish J; Constantinescu, Stefan N; Cooper, Megan A; Dalgard, Clifton L; Fellay, Jacques; Heath, James R; Lau, Yu-Lung; Lifton, Richard P; Maniatis, Tom; Mogensen, Trine H; von Bernuth, Horst; Lermine, Alban; Vidaud, Michel; Boland, Anne; Deleuze, Jean-François; Nussbaum, Robert; Kahn-Kirby, Amanda; Mentre, France; Tubiana, Sarah; Gorochov, Guy; Tubach, Florence; Hausfater, Pierre; Meyts, Isabelle; Zhang, Shen-Ying; Puel, Anne; Notarangelo, Luigi D; Boisson-Dupuis, Stephanie; Su, Helen C; Boisson, Bertrand; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Zhang, Qian; Abel, Laurent; Cobat, Aurélie

Impact of newborn screening for SCID on the management of congenital athymia

新生儿SCID筛查对先天性无胸腺症管理的影响

Howley, Evey; Golwala, Zainab; Buckland, Matthew; Barzaghi, Federica; Ghosh, Sujal; Hackett, Scott; Hague, Rosie; Hauck, Fabian; Holzer, Ursula; Klocperk, Adam; Koskenvuo, Minna; Marcus, Nufar; Marzollo, Antonio; Pac, Malgorzata; Sinclair, Jan; Speckmann, Carsten; Soomann, Maarja; Speirs, Lynne; Suresh, Sneha; Taque, Sophie; van Montfrans, Joris; von Bernuth, Horst; Wainstein, Brynn K; Worth, Austen; Davies, E Graham; Kreins, Alexandra Y