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

Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients

一项包含66名儿童和成人患者的国际队列研究分析了WHIM综合征的疾病进展

Geier, Christoph B; Ellison, Maryssa; Cruz, Rachel; Pawar, Sumit; Leiss-Piller, Alexander; Zmajkovicova, Katarina; McNulty, Shannon M; Yilmaz, Melis; Evans, Martin Oman 2nd; Gordon, Sumai; Ujhazi, Boglarka; Wiest, Ivana; Abolhassani, Hassan; Aghamohammadi, Asghar; Barmettler, Sara; Bhar, Saleh; Bondarenko, Anastasia; Bolyard, Audrey Anna; Buchbinder, David; Cada, Michaela; Cavieres, Mirta; Connelly, James A; Dale, David C; Deordieva, Ekaterina; Dorsey, Morna J; Drysdale, Simon B; Ehl, Stephan; Elfeky, Reem; Fioredda, Francesca; Firkin, Frank; Förster-Waldl, Elizabeth; Geng, Bob; Goda, Vera; Gonzalez-Granado, Luis; Grunebaum, Eyal; Grzesk, Elzbieta; Henrickson, Sarah E; Hilfanova, Anna; Hiwatari, Mitsuteru; Imai, Chihaya; Ip, Winnie; Jyonouchi, Soma; Kanegane, Hirokazu; Kawahara, Yuta; Khojah, Amer M; Kim, Vy Hong-Diep; Kojić, Marina; Kołtan, Sylwia; Krivan, Gergely; Langguth, Daman; Lau, Yu-Lung; Leung, Daniel; Miano, Maurizio; Mersyanova, Irina; Mousallem, Talal; Muskat, Mica; Naoum, Flavio A; Noronha, Suzie A; Ouederni, Monia; Ozono, Shuichi; Richmond, G Wendell; Sakovich, Inga; Salzer, Ulrich; Schuetz, Catharina; Seeborg, Filiz Odabasi; Sharapova, Svetlana O; Sockel, Katja; Volokha, Alla; von Bonin, Malte; Warnatz, Klaus; Wegehaupt, Oliver; Weinberg, Geoffrey A; Wong, Ke-Juin; Worth, Austen; Yu, Huang; Zharankova, Yulia; Zhao, Xiaodong; Devlin, Lisa; Badarau, Adriana; Csomos, Krisztian; Keszei, Marton; Pereira, Joao; Taveras, Arthur G; Beaussant-Cohen, Sarah L; Ong, Mei-Sing; Shcherbina, Anna; Walter, Jolan E

Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex

由衣壳蛋白 I 复合物 γ1 亚基突变引起的联合免疫缺陷

Bainter, Wayne; Platt, Craig D; Park, Seung-Yeol; Stafstrom, Kelsey; Wallace, Jacqueline G; Peters, Zachary T; Massaad, Michel J; Becuwe, Michel; Salinas, Sandra Andrea; Jones, Jennifer; Beaussant-Cohen, Sarah; Jaber, Faris; Yang, Jia-Shu; Walther, Tobias C; Orange, Jordan S; Rao, Chitong; Rakoff-Nahoum, Seth; Tsokos, Maria; Naseem, Shafiq Ur Rehman; Al-Tamemi, Salem; Chou, Janet; Hsu, Victor W; Geha, Raif S

Combined immunodeficiency in a patient with c-Rel deficiency.

c-Rel 缺陷患者合并免疫缺陷

Beaussant-Cohen Sarah, Jaber Faris, Massaad Michel J, Weeks Sabrina, Jones Jennifer, Alosaimi Mohammed F, Wallace Jacqueline, Al-Herz Waleed, Geha Raif S, Chou Janet

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

法国严重慢性中性粒细胞减少症登记处8例WHIM综合征患者队列的描述和结局

Beaussant Cohen, Sarah; Fenneteau, Odile; Plouvier, Emmanuel; Rohrlich, Pierre-Simon; Daltroff, Gerard; Plantier, Isabelle; Dupuy, Alain; Kerob, Delphine; Beaupain, Blandine; Bordigoni, Pierre; Fouyssac, Fanny; Delezoide, Anne-Lise; Devouassoux, Gilles; Nicolas, Jean François; Bensaid, Philippe; Bertrand, Yves; Balabanian, Karl; Chantelot, Christine Bellanne; Bachelerie, Françoise; Donadieu, Jean