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

Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis

人类TBK1缺乏症:从自身炎症到病毒性脑炎的疾病谱扩大

Akalu, Yemsratch; Taft, Justin; Berger, Thomas; Rostásy, Kevin; Dafsari, Hormos S; Schönrade, Helena; Cüceoğlu, Müşerref Kasap; Özen, Seza; Faye, Albert; Melki, Isabelle; Dobroz, Imen; Boespflug-Tanguy, Odile; Kiykim, Ayça; Sahin, Sezgin; Tahir Turanli, Eda; Akca, Ümmüşen Kaya; van Laar, Jan A M; van Pelt, Philomine A; Hollink, Iris H I M; Pimpale Chavan, Pallavi; Khubchandani, Raju; Aksentijevich, Ivona; Bogunovic, Dusan

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency

双等位基因人类 SHARPIN 功能丧失会诱发自身炎症和免疫缺陷

Hirotsugu Oda #, Kalpana Manthiram #, Pallavi Pimpale Chavan, Eva Rieser, Önay Veli, Öykü Kaya, Charles Rauch, Shuichiro Nakabo, Hye Sun Kuehn, Mariël Swart, Yanli Wang, Nisa Ilgim Çelik, Anne Molitor, Vahid Ziaee, Nasim Movahedi, Mohammad Shahrooei, Nima Parvaneh, Nasrin Alipour-Olyei, Raphael Cara

Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne

阻断化脓性关节炎伴坏疽性脓皮病和痤疮综合征中 IFN-γ 依赖性反馈回路

Lee, Wonyong; Stone, Deborah L; Hoffmann, Patrycja; Rosenzweig, Sofia; Tsai, Wanxia Li; Gadina, Massimo; Romeo, Tina; Lee, Chyi-Chia Richard; Randazzo, Davide; Pimpale Chavan, Pallavi; Manthiram, Kalpana; Canna, Scott; Park, Yong Hwan; Ombrello, Amanda K; Aksentijevich, Ivona; Kastner, Daniel L; Chae, Jae Jin

Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome

STAT4 变异体与自身炎症综合征中对鲁索替尼的反应

Baghdassarian, Hratch; Blackstone, Sarah A; Clay, Owen S; Philips, Rachael; Matthiasardottir, Brynja; Nehrebecky, Michele; Hua, Vivian K; McVicar, Rachael; Liu, Yang; Tucker, Suzanne M; Randazzo, Davide; Deuitch, Natalie; Rosenzweig, Sofia; Mark, Adam; Sasik, Roman; Fisch, Kathleen M; Pimpale Chavan, Pallavi; Eren, Elif; Watts, Norman R; Ma, Chi A; Gadina, Massimo; Schwartz, Daniella M; Sanyal, Anwesha; Werner, Giffin; Murdock, David R; Horita, Nobuyuki; Chowdhury, Shimul; Dimmock, David; Jepsen, Kristen; Remmers, Elaine F; Goldbach-Mansky, Raphaela; Gahl, William A; O'Shea, John J; Milner, Joshua D; Lewis, Nathan E; Chang, Johanna; Kastner, Daniel L; Torok, Kathryn; Oda, Hirotsugu; Putnam, Christopher D; Broderick, Lori

Case report: Novel variants in RELA associated with familial Behcet's-like disease

病例报告:RELA基因新变异与家族性白塞氏病样疾病相关

An, Jason W; Pimpale-Chavan, Pallavi; Stone, Deborah L; Bandeira, Marcia; Dedeoglu, Fatma; Lo, Jeffrey; Bohnsack, John; Rosenzweig, Sofia; Schnappauf, Oskar; Dissanayake, Dilan; Hiraki, Linda T; Kastner, Daniel L; Pelajo, Christina; Laxer, Ronald M; Aksentijevich, Ivona

Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death

人类 TBK1 缺乏可导致由 TNF 诱导的细胞死亡引起的自身炎症

Justin Taft, Michael Markson, Diana Legarda, Roosheel Patel, Mark Chan, Louise Malle, Ashley Richardson, Conor Gruber, Marta Martín-Fernández, Grazia M S Mancini, Jan A M van Laar, Philomine van Pelt, Sofija Buta, Beatrijs H A Wokke, Ira K D Sabli, Vanessa Sancho-Shimizu, Pallavi Pimpale Chavan, Osk

Deficiency of Adenosine Deaminase 2 (DADA2): One Disease, Several Faces

腺苷脱氨酶 2 缺乏症 (DADA2):一种疾病,多种表现形式

Pimpale Chavan, Pallavi; Ramadoss, Divya; Khan, Archana; Lee, Pui Y; Khubchandani, Raju