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

Рrospective multicenter study of treatment efficacy, safety, and quality of life in a large cohort of patients with inborn errors of immunity receiving subcutaneous immunoglobulin by the rapid push method

一项前瞻性多中心研究,旨在评估采用快速推注法皮下注射免疫球蛋白治疗先天性免疫缺陷患者的疗效、安全性和生活质量。

Avedova, Asmik; Deripapa, Elena; Rodina, Yulia; Mukhina, Anna; Latysheva, Elena; Yukhacheva, Daria; Burlakov, Vasily; Kan, Nellie; Bogdanova, Daria; Moiseeva, Anna; Kuzmenko, Natalia; Nesterenko, Zoya; Deordieva, Ekaterina; Ogneva, Anna; Bludova, Victoria; Roppelt, Anna; Fomina, Daria; Zinovieva, Natalia; Sevostyanova, Yulia; Kalmeteva, Linara; Prolygina, Dilara; Barycheva, Lyudmila; Selezneva, Olga; Shakhova, Natalya; Laba, Olga; Vlasova, Elena; Gorenkova, Alla; Timofeeva, Elena; Trusova, Olga; Guseva, Marina; Yudina, Natalya; Grevtseva, Evgeniya; Ibisheva, Asya; Bambaeva, Zema; Mashkovskaya, Dina; Isakova, Svetlana; Shakirova, Almazia; Selina, Ekaterina; Shilova, Tatyana; Zubova, Elena; Khabaeva, Iman; Kitova, Ekaterina; Mandzhieva, Anastasia; Starikova, Svetlana; Pavlova, Tatyana; Tyulyakova, Elvira; Levin, Pavel; Grachev, Nikolay; Shcherbina, Anna

Recurrent angioedema manifestation and treatment response in two patients from different families caring the myoferlin gene mutation: case series

两例来自不同家族且携带肌球蛋白基因突变的患者出现复发性血管性水肿及其治疗反应:病例系列

Fomina, Daria S; Lebedkina, Marina S; Bobrikova, Elena N; Yukhnovskaya, Yulia D; Roppelt, Anna A; Mukhina, Olga A; Markina, Ulyana A; Alexeeva, Yulia G; Nikitina, Ekaterina A; Maurer, Marcus; Karaulov, Alexander V; Lysenko, Maryana A; Buttgereit, Thomas

Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency

病例报告:JAK抑制剂治疗PTPN2缺陷患者的免疫失调症状

Roppelt, Anna; Markina, Ulyana; Beloglazova, Irina; Parshin, Vasily; Kanner, Dmitry; Pershin, Dmitry; Fadeeva, Mariia; Raykina, Elena; Aleksenko, Maxim; Karaulov, Alexander; Lysenko, Mariana; Fomina, Daria

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

人类 CARMIL2 缺陷所导致的免疫学和临床表型比 CD28 缺陷更为广泛。

Lévy, Romain; Gothe, Florian; Momenilandi, Mana; Magg, Thomas; Materna, Marie; Peters, Philipp; Raedler, Johannes; Philippot, Quentin; Rack-Hoch, Anita Lena; Langlais, David; Bourgey, Mathieu; Lanz, Anna-Lisa; Ogishi, Masato; Rosain, Jérémie; Martin, Emmanuel; Latour, Sylvain; Vladikine, Natasha; Distefano, Marco; Khan, Taushif; Rapaport, Franck; Schulz, Marian S; Holzer, Ursula; Fasth, Anders; Sogkas, Georgios; Speckmann, Carsten; Troilo, Arianna; Bigley, Venetia; Roppelt, Anna; Dinur-Schejter, Yael; Toker, Ori; Bronken Martinsen, Karen Helene; Sherkat, Roya; Somekh, Ido; Somech, Raz; Shouval, Dror S; Kühl, Jörn-Sven; Ip, Winnie; McDermott, Elizabeth M; Cliffe, Lucy; Ozen, Ahmet; Baris, Safa; Rangarajan, Hemalatha G; Jouanguy, Emmanuelle; Puel, Anne; Bustamante, Jacinta; Alyanakian, Marie-Alexandra; Fusaro, Mathieu; Wang, Yi; Kong, Xiao-Fei; Cobat, Aurélie; Boutboul, David; Castelle, Martin; Aguilar, Claire; Hermine, Olivier; Cheminant, Morgane; Suarez, Felipe; Yildiran, Alisan; Bousfiha, Aziz; Al-Mousa, Hamoud; Alsohime, Fahad; Cagdas, Deniz; Abraham, Roshini S; Knutsen, Alan P; Fevang, Borre; Bhattad, Sagar; Kiykim, Ayca; Erman, Baran; Arikoglu, Tugba; Unal, Ekrem; Kumar, Ashish; Geier, Christoph B; Baumann, Ulrich; Neven, Bénédicte; Rohlfs, Meino; Walz, Christoph; Abel, Laurent; Malissen, Bernard; Marr, Nico; Klein, Christoph; Casanova, Jean-Laurent; Hauck, Fabian; Béziat, Vivien

Lentiviral Gene Transfer Corrects Immune Abnormalities in XIAP Deficiency

慢病毒基因转移纠正 XIAP 缺乏症的免疫异常

Joseph Topal, Neelam Panchal, Amairelys Barroeta, Anna Roppelt, Annelotte Mudde, H Bobby Gaspar, Adrian J Thrasher, Benjamin C Houghton, Claire Booth

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

不同治疗策略下IPEX综合征患者的长期随访:一项国际多中心回顾性研究

Barzaghi, Federica; Amaya Hernandez, Laura Cristina; Neven, Benedicte; Ricci, Silvia; Kucuk, Zeynep Yesim; Bleesing, Jack J; Nademi, Zohreh; Slatter, Mary Anne; Ulloa, Erlinda Rose; Shcherbina, Anna; Roppelt, Anna; Worth, Austen; Silva, Juliana; Aiuti, Alessandro; Murguia-Favela, Luis; Speckmann, Carsten; Carneiro-Sampaio, Magda; Fernandes, Juliana Folloni; Baris, Safa; Ozen, Ahmet; Karakoc-Aydiner, Elif; Kiykim, Ayca; Schulz, Ansgar; Steinmann, Sandra; Notarangelo, Lucia Dora; Gambineri, Eleonora; Lionetti, Paolo; Shearer, William Thomas; Forbes, Lisa R; Martinez, Caridad; Moshous, Despina; Blanche, Stephane; Fisher, Alain; Ruemmele, Frank M; Tissandier, Come; Ouachee-Chardin, Marie; Rieux-Laucat, Frédéric; Cavazzana, Marina; Qasim, Waseem; Lucarelli, Barbarella; Albert, Michael H; Kobayashi, Ichiro; Alonso, Laura; Diaz De Heredia, Cristina; Kanegane, Hirokazu; Lawitschka, Anita; Seo, Jong Jin; Gonzalez-Vicent, Marta; Diaz, Miguel Angel; Goyal, Rakesh Kumar; Sauer, Martin G; Yesilipek, Akif; Kim, Minsoo; Yilmaz-Demirdag, Yesim; Bhatia, Monica; Khlevner, Julie; Richmond Padilla, Erick J; Martino, Silvana; Montin, Davide; Neth, Olaf; Molinos-Quintana, Agueda; Valverde-Fernandez, Justo; Broides, Arnon; Pinsk, Vered; Ballauf, Antje; Haerynck, Filomeen; Bordon, Victoria; Dhooge, Catharina; Garcia-Lloret, Maria Laura; Bredius, Robbert G; Kałwak, Krzysztof; Haddad, Elie; Seidel, Markus Gerhard; Duckers, Gregor; Pai, Sung-Yun; Dvorak, Christopher C; Ehl, Stephan; Locatelli, Franco; Goldman, Frederick; Gennery, Andrew Richard; Cowan, Mort J; Roncarolo, Maria-Grazia; Bacchetta, Rosa

Triple negative invasive lobular carcinoma of the breast presents as small bowel obstruction

乳腺三阴性浸润性小叶癌表现为小肠梗阻

Khokhlova, Mariya; Roppelt, Heidi; Gluck, Bradley; Liu, Jingxuan; Haye, Kester; Pak, Sang; Kapenhas, Edna

Item Position Effects Are Moderated by Changes in Test-Taking Effort

项目位置效应受考试努力程度变化的影响

Weirich, Sebastian; Hecht, Martin; Penk, Christiane; Roppelt, Alexander; Böhme, Katrin

Dramatic response to infliximab in refractory neurosarcoidosis

英夫利昔单抗治疗难治性神经结节病疗效显著

Chintamaneni, Sreekanth; Patel, Aarat M; Pegram, Samuel B; Patel, Hirenkumar; Roppelt, Heidi