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

Allogeneic hematopoietic stem cell transplantation for STAT3 hyper-IgE syndrome: a worldwide study

异基因造血干细胞移植治疗STAT3高IgE综合征:一项全球性研究

Tsilifis, Christo; Raedler, Johannes; Renke, Joanna; Medinger, Michael; Laberko, Alexandra; Haraldsson, Ásgeir; Patel, Niraj; Ciznar, Peter; Wong, Melanie; Keogh, Steven J; Gray, Paul; Mitchell, Richard; Bigley, Venetia; Elcombe, Suzanne; Hauck, Fabian; Albert, Michael H; Tholouli, Eleni; Herwadkar, Archana; Elkhalifa, Shuayb; Kosmidis, Chris; Callisti, Giorgio; Burroughs, Lauri M; Chen, Karin; Carpenter, Ben; Fox, Thomas A; Morris, Emma C; Uppuluri, Ramya; Raj, Revathi; Yanagimachi, Masakatsu; Buddingh, Emilie P; Oikonomopoulou, Christina; Gonzalez, Corina; Dimitrova, Dimana; Kanakry, Jennifer A; Arnold, Danielle; Pai, Sung-Yun; Slatter, Mary A; Pearce, Mark S; Worth, Austen; Freeman, Alexandra F; Gennery, Andrew R

Impact of immunodeficiencies on immunity induced by SARS-CoV-2 infection, mRNA BNT162b2 vaccination, and their combination in children and young adults

免疫缺陷对儿童和青少年SARS-CoV-2感染、mRNA BNT162b2疫苗接种及其联合应用所诱导免疫的影响

Fialova, Lubica; Macek-Nabova, Birivan; Zilkova, Monika; Turic-Csokova, Natalia; Palova, Denisa; Katina, Stanislav; Paulikova-Rolkova, Gabriela; Ciznar, Peter; Horakova, Julia; Wojciakova, Lubica; Markova, Karina; Kontsekova, Eva; Kovacech, Branislav

Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death

SEL1L 的双等位基因 Cys141Tyr 变体与神经发育障碍、无丙种球蛋白血症和过早死亡有关

Denisa Weis, Liangguang L Lin, Huilun H Wang, Zexin Jason Li, Katarina Kusikova, Peter Ciznar, Hermann M Wolf, Alexander Leiss-Piller, Zhihong Wang, Xiaoqiong Wei, Serge Weis, Katarina Skalicka, Gabriela Hrckova, Lubos Danisovic, Andrea Soltysova, Tingxuan T Yang, René Günther Feichtinger, Johannes

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

人类替代性NF-κB通路缺陷中针对I型干扰素的自身抗体

Tom Le Voyer ,Audrey V Parent # ,Xian Liu # ,Axel Cederholm # ,Adrian Gervais ,Jérémie Rosain ,Tina Nguyen ,Malena Perez Lorenzo ,Elze Rackaityte ,Darawan Rinchai ,Peng Zhang ,Lucy Bizien ,Gonca Hancioglu ,Pascale Ghillani-Dalbin ,Jean-Luc Charuel ,Quentin Philippot ,Mame Sokhna Gueye ,Majistor Raj Luxman Maglorius Renkilaraj ,Masato Ogishi ,Camille Soudée ,Mélanie Migaud ,Flore Rozenberg ,Mana Momenilandi ,Quentin Riller ,Luisa Imberti ,Ottavia M Delmonte ,Gabriele Müller ,Baerbel Keller ,Julio Orrego ,William Alexander Franco Gallego ,Tamar Rubin ,Melike Emiroglu ,Nima Parvaneh ,Daniel Eriksson ,Maribel Aranda-Guillen ,David I Berrios ,Linda Vong ,Constance H Katelaris ,Peter Mustillo ,Johannes Raedler ,Jonathan Bohlen ,Jale Bengi Celik ,Camila Astudillo ,Sarah Winter ,Aurélien Guffroy ,Joseph L DeRisi ,David Yu ,Corey Miller ,Yi Feng ,Audrey Guichard ,Vivien Béziat ,Jacinta Bustamante ,Qiang Pan-Hammarström ,Yu Zhang ,Lindsey B Rosen ,Steve M Holland ,Marita Bosticardo ,Heather Kenney ,Riccardo Castagnoli ,Charlotte A Slade ,Kaan Boztuğ ,Nizar Mahlaoui ,Sylvain Latour ,Roshini S Abraham ,Vassilios Lougaris ,Fabian Hauck ,Anna Sediva ,Faranaz Atschekzei ,Georgios Sogkas ,M Cecilia Poli ,Mary A Slatter ,Boaz Palterer ,Michael D Keller ,Alberto Pinzon-Charry ,Anna Sullivan ,Luke Droney ,Daniel Suan ,Melanie Wong ,Alisa Kane ,Hannah Hu ,Cindy Ma ,Hana Grombiříková ,Peter Ciznar ,Ilan Dalal ,Nathalie Aladjidi ,Miguel Hie ,Estibaliz Lazaro ,Jose Franco ,Sevgi Keles ,Marion Malphettes ,Marlene Pasquet ,Maria Elena Maccari ,Andrea Meinhardt ,Aydan Ikinciogullari ,Mohammad Shahrooei ,Fatih Celmeli ,Patrick Frosk ,Christopher C Goodnow ,Paul E Gray ,Alexandre Belot ,Hye Sun Kuehn ,Sergio D Rosenzweig ,Makoto Miyara ,Francesco Licciardi ,Amélie Servettaz ,Vincent Barlogis ,Guillaume Le Guenno ,Vera-Maria Herrmann ,Taco Kuijpers ,Grégoire Ducoux ,Françoise Sarrot-Reynauld ,Catharina Schuetz ,Charlotte Cunningham-Rundles ,Frédéric Rieux-Laucat ,Stuart G Tangye ,Cristina Sobacchi ,Rainer Doffinger ,Klaus Warnatz ,Bodo Grimbacher ,Claire Fieschi ,Laureline Berteloot ,Vanessa L Bryant ,Sophie Trouillet Assant ,Helen Su ,Benedicte Neven ,Laurent Abel ,Qian Zhang ,Bertrand Boisson ,Aurélie Cobat ,Emmanuelle Jouanguy ,Olle Kampe ,Paul Bastard ,Chaim M Roifman ,Nils Landegren ,Luigi D Notarangelo ,Mark S Anderson ,Jean-Laurent Casanova ,Anne Puel

Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021

2004年至2021年间,30个J项目国家先天性免疫缺陷患者的护理情况

Abolhassani, Hassan; Avcin, Tadej; Bahceciler, Nerin; Balashov, Dmitry; Bata, Zsuzsanna; Bataneant, Mihaela; Belevtsev, Mikhail; Bernatowska, Ewa; Bidló, Judit; Blazsó, Péter; Boisson, Bertrand; Bolkov, Mikhail; Bondarenko, Anastasia; Boyarchuk, Oksana; Bundschu, Anna; Casanova, Jean-Laurent; Chernishova, Liudmyla; Ciznar, Peter; Csürke, Ildikó; Erdős, Melinda; Farkas, Henriette; Fomina, Daria S; Galal, Nermeen; Goda, Vera; Guner, Sukru Nail; Hauser, Péter; Ilyina, Natalya I; Iremadze, Teona; Iritsyan, Sevan; Ismaili-Jaha, Vlora; Jesenak, Milos; Kelecic, Jadranka; Keles, Sevgi; Kindle, Gerhard; Kondratenko, Irina V; Kostyuchenko, Larysa; Kovzel, Elena; Kriván, Gergely; Kuli-Lito, Georgina; Kumánovics, Gábor; Kurjane, Natalja; Latysheva, Elena A; Latysheva, Tatiana V; Lázár, István; Markelj, Gasper; Markovic, Maja; Maródi, László; Mammadova, Vafa; Medvecz, Márta; Miltner, Noémi; Mironska, Kristina; Modell, Fred; Modell, Vicki; Mosdósi, Bernadett; Mukhina, Anna A; Murdjeva, Marianna; Műzes, Györgyi; Nabieva, Umida; Nasrullayeva, Gulnara; Naumova, Elissaveta; Nagy, Kálmán; Onozó, Beáta; Orozbekova, Bubusaira; Pac, Malgorzata; Pagava, Karaman; Pampura, Alexander N; Pasic, Srdjan; Petrosyan, Mery; Petrovic, Gordana; Pocek, Lidija; Prodeus, Andrei P; Reisli, Ismail; Ress, Krista; Rezaei, Nima; Rodina, Yulia A; Rumyantsev, Alexander G; Sciuca, Svetlana; Sediva, Anna; Serban, Margit; Sharapova, Svetlana; Shcherbina, Anna; Sitkauskiene, Brigita; Snimshchikova, Irina; Spahiu-Konjusha, Shqipe; Szolnoky, Miklós; Szűcs, Gabriella; Toplak, Natasa; Tóth, Beáta; Tsyvkina, Galina; Tuzankina, Irina; Vlasova, Elena; Volokha, Alla

Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations

扩大与 FOXN1 纯合、复合杂合或杂合突变相关的裸鼠 SCID/CID 表型

Giuliana Giardino, Svetlana O Sharapova, Peter Ciznar, Fatima Dhalla, Luca Maragliano, Akella Radha Rama Devi, Candan Islamoglu, Aydan Ikinciogullari, Sule Haskologlu, Figen Dogu, Rima Hanna-Wakim, Ghassan Dbaibo, Janet Chou, Emilia Cirillo, Carla Borzacchiello, Alexandra Y Kreins, Austen Worth, Ioa

Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

简单测量IgA即可预测毛细血管扩张性共济失调患者的免疫力和死亡率

Zielen, Stefan; Duecker, Ruth Pia; Woelke, Sandra; Donath, Helena; Bakhtiar, Sharhzad; Buecker, Aileen; Kreyenberg, Hermann; Huenecke, Sabine; Bader, Peter; Mahlaoui, Nizar; Ehl, Stephan; El-Helou, Sabine M; Pietrucha, Barbara; Plebani, Alessandro; van der Flier, Michiel; van Aerde, Koen; Kilic, Sara S; Reda, Shereen M; Kostyuchenko, Larysa; McDermott, Elizabeth; Galal, Nermeen; Pignata, Claudio; Pérez, Juan Luis Santos; Laws, Hans-Juergen; Niehues, Tim; Kutukculer, Necil; Seidel, Markus G; Marques, Laura; Ciznar, Peter; Edgar, John David M; Soler-Palacín, Pere; von Bernuth, Horst; Krueger, Renate; Meyts, Isabelle; Baumann, Ulrich; Kanariou, Maria; Grimbacher, Bodo; Hauck, Fabian; Graf, Dagmar; Granado, Luis Ignacio Gonzalez; Prader, Seraina; Reisli, Ismail; Slatter, Mary; Rodríguez-Gallego, Carlos; Arkwright, Peter D; Bethune, Claire; Deripapa, Elena; Sharapova, Svetlana O; Lehmberg, Kai; Davies, E Graham; Schuetz, Catharina; Kindle, Gerhard; Schubert, Ralf

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

更正:人类IL6ST基因的显性负性突变是高IgE综合征的病因。

Béziat, Vivien; Tavernier, Simon J; Chen, Yin-Huai; Ma, Cindy S; Materna, Marie; Laurence, Arian; Staal, Jens; Aschenbrenner, Dominik; Roels, Lisa; Worley, Lisa; Claes, Kathleen; Gartner, Lisa; Kohn, Lisa A; De Bruyne, Marieke; Schmitz-Abe, Klaus; Charbonnier, Louis-Marie; Keles, Sevgi; Nammour, Justine; Vladikine, Natasha; Luxman Maglorius Renkilaraj, Majistor Raj; Seeleuthner, Yoann; Migaud, Mélanie; Rosain, Jérémie; Jeljeli, Mohamed; Boisson, Bertrand; Van Braeckel, Eva; Rosenfeld, Jill A; Dai, Hongzheng; Burrage, Lindsay C; Murdock, David R; Lambrecht, Bart N; Avettand-Fenoel, Véronique; Vogel, Tiphanie P; Network, Undiagnosed Diseases; Esther, Charles R; Haskologlu, Sule; Dogu, Figen; Ciznar, Peter; Boutboul, David; Ouachée-Chardin, Marie; Amourette, Jean; Lebras, Marie-Noëlle; Gauvain, Clément; Tcherakian, Colas; Ikinciogullari, Aydan; Beyaert, Rudi; Abel, Laurent; Milner, Joshua D; Grimbacher, Bodo; Couderc, Louis-Jean; Butte, Manish J; Freeman, Alexandra F; Catherinot, Émilie; Fieschi, Claire; Chatila, Talal A; Tangye, Stuart G; Uhlig, Holm H; Haerynck, Filomeen; Casanova, Jean-Laurent; Puel, Anne

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

斯拉夫国家82例RAG缺陷患者的临床和遗传谱,包括c.256_257delAA创始变异

Sharapova, Svetlana O; Skomska-Pawliszak, Małgorzata; Rodina, Yulia A; Wolska-Kuśnierz, Beata; Dabrowska-Leonik, Nel; Mikołuć, Bozena; Pashchenko, Olga E; Pasic, Srdjan; Freiberger, Tomáš; Milota, Tomáš; Formánková, Renata; Szaflarska, Anna; Siedlar, Maciej; Avčin, Tadej; Markelj, Gašper; Ciznar, Peter; Kalwak, Krzysztof; Kołtan, Sylwia; Jackowska, Teresa; Drabko, Katarzyna; Gagro, Alenka; Pac, Małgorzata; Naumova, Elissaveta; Kandilarova, Snezhina; Babol-Pokora, Katarzyna; Varabyou, Dzmitry S; Barendregt, Barbara H; Raykina, Elena V; Varlamova, Tatiana V; Pavlova, Anna V; Grombirikova, Hana; Debeljak, Maruša; Mersiyanova, Irina V; Bondarenko, Anastasiia V; Chernyshova, Liudmyla I; Kostyuchenko, Larysa V; Guseva, Marina N; Rascon, Jelena; Muleviciene, Audrone; Preiksaitiene, Egle; Geier, Christoph B; Leiss-Piller, Alexander; Yamazaki, Yasuhiro; Kawai, Tomoki; Walter, Jolan E; Kondratenko, Irina V; Šedivá, Anna; van der Burg, Mirjam; Kuzmenko, Natalia B; Notarangelo, Luigi D; Bernatowska, Ewa; Aleinikova, Olga V

Impact of interleukin 13 (IL13) genetic polymorphism Arg130Gln on total serum immunoglobulin (IgE) levels and interferon (IFN)-γ gene expression

白细胞介素13 (IL13) 基因多态性Arg130Gln对血清总免疫球蛋白(IgE)水平和干扰素(IFN)-γ基因表达的影响

Smolkova, B; Tulinska, J; Palkovicova Murinova, L; Buocikova, V; Liskova, A; Rausova, K; Kuricova, M; Patayova, H; Sustrova, M; Neubauerova Svorcova, E; Ilavska, S; Szabova, M; Nemessanyi, T; Jahnova, E; Dusinska, M; Ciznar, P; Fuortes, L