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

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

IKZF2 中的显性负性变异会导致 ICHAD 综合征,这是一种以免疫失调、颅面畸形、听力障碍、无肌张力和发育迟缓为特征的新疾病

Mohajeri Arezoo, Vaseghi-Shanjani Maryam, Rosenfeld Jill A, Yang Gui Xiang, Lu Henry, Sharma Mehul, Lin Susan, Salman Areesha, Waqas Meriam, Sababi Azamian Mahshid, Worley Kim C, Del Bel Kate L, Kozak Frederick K, Rahmanian Ronak, Biggs Catherine M, Hildebrand Kyla J, Lalani Seema R, Nicholas Sarah K, Scott Daryl A, Mostafavi Sara, van Karnebeek Clara, Henkelman Erika, Halparin Jessica, Yang Connie L, Armstrong Linlea, Turvey Stuart E, Lehman Anna

HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease

造血干细胞移植可纠正POMP相关自身炎症性疾病患者的原发性免疫缺陷和免疫失调。

Martinez, Caridad; Ebstein, Frédéric; Nicholas, Sarah K; De Guzman, Marietta; Forbes, Lisa R; Delmonte, Ottavia M; Bosticardo, Marita; Castagnoli, Riccardo; Krance, Robert; Notarangelo, Luigi D; Krüger, Elke; Orange, Jordan S; Poli, M Cecilia

Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality

病例报告:慢性肉芽肿病继发性噬血细胞性淋巴组织细胞增生症伴播散性感染——一种严重的死亡原因

Squire, Jacqueline D; Vazquez, Stephanie N; Chan, Angela; Smith, Michele E; Chellapandian, Deepak; Vose, Laura; Teppa, Beatriz; Hanson, I Celine; Chinn, Ivan K; Forbes-Satter, Lisa; Seeborg, Filiz O; Nicholas, Sarah K; Martinez, Caridad A; Allen, Carl E; Connors, Thomas J; Satwani, Prakash; Shtessel, Maria; Ale, Hanadys; Noroski, Lenora M; Rider, Nicholas L; Milner, Joshua D; Leiding, Jennifer W

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

RAG缺陷患者自身免疫和过度炎症的结局和治疗策略

Farmer, Jocelyn R; Foldvari, Zsofia; Ujhazi, Boglarka; De Ravin, Suk See; Chen, Karin; Bleesing, Jack J H; Schuetz, Catharina; Al-Herz, Waleed; Abraham, Roshini S; Joshi, Avni Y; Costa-Carvalho, Beatriz T; Buchbinder, David; Booth, Claire; Reiff, Andreas; Ferguson, Polly J; Aghamohammadi, Asghar; Abolhassani, Hassan; Puck, Jennifer M; Adeli, Mehdi; Cancrini, Caterina; Palma, Paolo; Bertaina, Alice; Locatelli, Franco; Di Matteo, Gigliola; Geha, Raif S; Kanariou, Maria G; Lycopoulou, Lilia; Tzanoudaki, Marianna; Sleasman, John W; Parikh, Suhag; Pinero, Gloria; Fischer, Bernard M; Dbaibo, Ghassan; Unal, Ekrem; Patiroglu, Turkan; Karakukcu, Musa; Al-Saad, Khulood Khalifa; Dilley, Meredith A; Pai, Sung-Yun; Dutmer, Cullen M; Gelfand, Erwin W; Geier, Christoph B; Eibl, Martha M; Wolf, Hermann M; Henderson, Lauren A; Hazen, Melissa M; Bonfim, Carmem; Wolska-Kuśnierz, Beata; Butte, Manish J; Hernandez, Joseph D; Nicholas, Sarah K; Stepensky, Polina; Chandrakasan, Shanmuganathan; Miano, Maurizio; Westermann-Clark, Emma; Goda, Vera; Kriván, Gergely; Holland, Steven M; Fadugba, Olajumoke; Henrickson, Sarah E; Ozen, Ahmet; Karakoc-Aydiner, Elif; Baris, Safa; Kiykim, Ayca; Bredius, Robbert; Hoeger, Birgit; Boztug, Kaan; Pashchenko, Olga; Neven, Benedicte; Moshous, Despina; Villartay, Jean-Pierre de; Bousfiha, Ahmed Aziz; Hill, Harry R; Notarangelo, Luigi D; Walter, Jolan E

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

儿童噬血细胞性淋巴组织细胞增生症的遗传和机制多样性

Chinn, Ivan K; Eckstein, Olive S; Peckham-Gregory, Erin C; Goldberg, Baruch R; Forbes, Lisa R; Nicholas, Sarah K; Mace, Emily M; Vogel, Tiphanie P; Abhyankar, Harshal A; Diaz, Maria I; Heslop, Helen E; Krance, Robert A; Martinez, Caridad A; Nguyen, Trung C; Bashir, Dalia A; Goldman, Jordana R; Stray-Pedersen, Asbjørg; Pedroza, Luis A; Poli, M Cecilia; Aldave-Becerra, Juan C; McGhee, Sean A; Al-Herz, Waleed; Chamdin, Aghiad; Coban-Akdemir, Zeynep H; Jhangiani, Shalini N; Muzny, Donna M; Cao, Tram N; Hong, Diana N; Gibbs, Richard A; Lupski, James R; Orange, Jordan S; McClain, Kenneth L; Allen, Carl E

ABO-incompatible deceased donor pediatric liver transplantation: Novel titer-based management protocol and outcomes

ABO血型不相容的已故供体儿童肝移植:基于抗体滴度的新型管理方案及结果

Mysore, Krupa R; Himes, Ryan W; Rana, Abbas; Teruya, Jun; Desai, Moreshwar S; Srivaths, Poyyapakkam R; Zaruca, Kimberly; Calvert, Andrea; Guffey, Danielle; Minard, Charles G; Morita, Eda; Hensch, Lisa; Losos, Michael; Kostousov, Vadim; Hui, Shiu-Ki Rocky; Orange, Jordan S; Goss, John A; Nicholas, Sarah K

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

原发性免疫缺陷病:基因组学方法揭示异质性孟德尔遗传病

Stray-Pedersen, Asbjørg; Sorte, Hanne Sørmo; Samarakoon, Pubudu; Gambin, Tomasz; Chinn, Ivan K; Coban Akdemir, Zeynep H; Erichsen, Hans Christian; Forbes, Lisa R; Gu, Shen; Yuan, Bo; Jhangiani, Shalini N; Muzny, Donna M; Rødningen, Olaug Kristin; Sheng, Ying; Nicholas, Sarah K; Noroski, Lenora M; Seeborg, Filiz O; Davis, Carla M; Canter, Debra L; Mace, Emily M; Vece, Timothy J; Allen, Carl E; Abhyankar, Harshal A; Boone, Philip M; Beck, Christine R; Wiszniewski, Wojciech; Fevang, Børre; Aukrust, Pål; Tjønnfjord, Geir E; Gedde-Dahl, Tobias; Hjorth-Hansen, Henrik; Dybedal, Ingunn; Nordøy, Ingvild; Jørgensen, Silje F; Abrahamsen, Tore G; Øverland, Torstein; Bechensteen, Anne Grete; Skogen, Vegard; Osnes, Liv T N; Kulseth, Mari Ann; Prescott, Trine E; Rustad, Cecilie F; Heimdal, Ketil R; Belmont, John W; Rider, Nicholas L; Chinen, Javier; Cao, Tram N; Smith, Eric A; Caldirola, Maria Soledad; Bezrodnik, Liliana; Lugo Reyes, Saul Oswaldo; Espinosa Rosales, Francisco J; Guerrero-Cursaru, Nina Denisse; Pedroza, Luis Alberto; Poli, Cecilia M; Franco, Jose L; Trujillo Vargas, Claudia M; Aldave Becerra, Juan Carlos; Wright, Nicola; Issekutz, Thomas B; Issekutz, Andrew C; Abbott, Jordan; Caldwell, Jason W; Bayer, Diana K; Chan, Alice Y; Aiuti, Alessandro; Cancrini, Caterina; Holmberg, Eva; West, Christina; Burstedt, Magnus; Karaca, Ender; Yesil, Gözde; Artac, Hasibe; Bayram, Yavuz; Atik, Mehmed Musa; Eldomery, Mohammad K; Ehlayel, Mohammad S; Jolles, Stephen; Flatø, Berit; Bertuch, Alison A; Hanson, I Celine; Zhang, Victor W; Wong, Lee-Jun; Hu, Jianhong; Walkiewicz, Magdalena; Yang, Yaping; Eng, Christine M; Boerwinkle, Eric; Gibbs, Richard A; Shearer, William T; Lyle, Robert; Orange, Jordan S; Lupski, James R

Immunologic Profiling of Human Metapneumovirus for the Development of Targeted Immunotherapy.

人类偏肺病毒免疫学分析及其在靶向免疫治疗开发中的应用

Tzannou Ifigeneia, Nicholas Sarah K, Lulla Premal, Aguayo-Hiraldo Paibel I, Misra Anisha, Martinez Caridad A, Machado Annette A, Orange Jordan S, Piedra Pedro A, Vera Juan F, Leen Ann M

Adoptive immunotherapy for primary immunodeficiency disorders with virus-specific T lymphocytes

利用病毒特异性T淋巴细胞进行原发性免疫缺陷疾病的过继免疫疗法

Naik, Swati; Nicholas, Sarah K; Martinez, Caridad A; Leen, Ann M; Hanley, Patrick J; Gottschalk, Steven M; Rooney, Cliona M; Hanson, I Celine; Krance, Robert A; Shpall, Elizabeth J; Cruz, Conrad R; Amrolia, Persis; Lucchini, Giovanna; Bunin, Nancy; Heimall, Jennifer; Klein, Orly R; Gennery, Andrew R; Slatter, Mary A; Vickers, Mark A; Orange, Jordan S; Heslop, Helen E; Bollard, Catherine M; Keller, Michael D

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

COPA基因突变会损害内质网-高尔基体运输,并导致遗传性自身免疫介导的肺部疾病和关节炎。

Watkin, Levi B; Jessen, Birthe; Wiszniewski, Wojciech; Vece, Timothy J; Jan, Max; Sha, Youbao; Thamsen, Maike; Santos-Cortez, Regie L P; Lee, Kwanghyuk; Gambin, Tomasz; Forbes, Lisa R; Law, Christopher S; Stray-Pedersen, Asbjørg; Cheng, Mickie H; Mace, Emily M; Anderson, Mark S; Liu, Dongfang; Tang, Ling Fung; Nicholas, Sarah K; Nahmod, Karen; Makedonas, George; Canter, Debra L; Kwok, Pui-Yan; Hicks, John; Jones, Kirk D; Penney, Samantha; Jhangiani, Shalini N; Rosenblum, Michael D; Dell, Sharon D; Waterfield, Michael R; Papa, Feroz R; Muzny, Donna M; Zaitlen, Noah; Leal, Suzanne M; Gonzaga-Jauregui, Claudia; Boerwinkle, Eric; Eissa, N Tony; Gibbs, Richard A; Lupski, James R; Orange, Jordan S; Shum, Anthony K