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

A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis.

ThPOK 的多态性变异会导致先天性免疫缺陷,伴有 T 细胞缺陷和纤维化

Vaseghi-Shanjani Maryam, Sharma Mehul, Yousefi Pariya, Samra Simran, Laverty Kaitlin U, Jolma Arttu, Razavi Rozita, Yang Ally H W, Albu Mihai, Golding Liam, Lee Anna F, Tan Ryan, Richmond Phillip A, Bosticardo Marita, Rayment Jonathan H, Yang Connie L, Hildebrand Kyla J, Brager Rae, Demos Michelle K, Lau Yu-Lung, Notarangelo Luigi D, Hughes Timothy R, Biggs Catherine M, Turvey Stuart E

[Mendelian randomization analysis of the causal relationships between human inflammatory proteins and keloids]

[人类炎症蛋白与瘢痕疙瘩因果关系的孟德尔随机化分析]

van der Linden, Tristan J; Arts, Rob J W; Biggs, Catherine M; Habibi, Laleh; Batlle-Masó, Laura; van Laarhoven, Arjan; Scheepmaker, Lisette M; Yousefi, Pariya; Gómez-Raccio, Andrea C; Alizadeh, Zahra; Mulders-Manders, Catharina M; Oever, Jaap Ten; Schuurs-Hoeijmakers, Janneke; Alipour-Olyei, Nasrin; Molitor, Anne; Di Giovanni, Daniela; Carapito, Raphael; Bahram, Seiamak; Seminario, Gisela; Bezrodnik, Liliana; Momenilandi, Mana; Shahrooei, Mohammad; Bustamante, Jacinta; Aksentijevich, Ivona; Kastner, Daniel; Fazlollahi, Mohammad R; Colobran, Roger; Turvey, Stuart E; van de Veerdonk, Frank L; Casanova, Jean-Laurent; Boisson, Bertrand; Bardoel, Bart W; Spaan, András N; 李, 涛; 朱, 晨晨; 陈, 今源; 李, 璞真; 金, 培生; 李, 雪阳

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease

人类生殖系双等位基因功能缺失的OSMR变异会导致严重的过敏性疾病

Sharma, Mehul; Samra, Simran; Liu, Yihui; James, Alyssa; Michalski, Christina; Yousefi, Pariya; Del Bel, Kate L; Lu, Henry Y; Sharma, Ashish A; Tarailo-Graovac, Maja; Dalmann, Joshua; Buder, Lily; Modi, Bhavi; Drogemoller, Britt; Blanchard Rohner, Géraldine; Senger, Christof; Rehmus, Wingfield; Prendiville, Julie S; Mangino, Massimo; Ross, Colin J; van Karnebeek, Clara Dm; Wasserman, Wyeth W; Lavoie, Pascal M; Prathibha, P M; Biggs, Catherine M; Boehnke, Michael; Kinnunen, Leena; Koistinen, Heikki A; McKinnon, Margaret L; Patil, Siddaramappa Jagdish; Bayer, Diana K; Lyons, Jonathan J; Turvey, Stuart E

Expanding the molecular and phenotypic spectrum of CTLA-4 insufficiency

扩展 CTLA-4 功能不全的分子和表型谱

Duke, Sean; Maiarana, James; Yousefi, Pariya; Burks, Elijah; Gerrie, Samantha; Setiadi, Audi; Hildebrand, Kyla J; James, Elliot; Turvey, Stuart E; Markle, Janet G; Biggs, Catherine M

The role of C-reactive protein and ferritin in the diagnosis of HLH, adult-onset still's disease, and COVID-19 cytokine storm

C反应蛋白和铁蛋白在噬血细胞性淋巴组织细胞增生症(HLH)、成人斯蒂尔病和COVID-19细胞因子风暴诊断中的作用

Goubran, Mariam; Spaner, Caroline; Stukas, Sophie; Zoref-Lorenz, Adi; Shojania, Kamran; Beckett, Madelaine; Li, Amanda; Peterson, Erica; Sekhon, Mypinder; Grey, Rebecca; Wellington, Cheryl; Cheng, Catherine V; Biggs, Catherine M; Mattman, Andre; Jordan, Michael B; Chen, Luke Y C; Setiadi, Audi

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism

MARK4 功能获得性变异与儿童神经发育障碍和畸形有关

Samra, Simran; Sharma, Mehul; Vaseghi-Shanjani, Maryam; Del Bel, Kate L; Byres, Loryn; Lin, Susan; Dalmann, Joshua; Salman, Areesha; Mwenifumbo, Jill; Modi, Bhavi P; Biggs, Catherine M; Boelman, Cyrus; Clarke, Lorne A; Lehman, Anna; Turvey, Stuart E

Inborn errors of immunity in adulthood

成年期先天性免疫缺陷

Wang, Joanne J F; Dhir, Arün; Hildebrand, Kyla J; Turvey, Stuart E; Schellenberg, Robert; Chen, Luke Y C; Pourshahnazari, Persia; Biggs, Catherine M

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

患有遗传性 MyD88 和 IRAK-4 缺陷的人类易患低氧性 COVID-19 肺炎

García-García, Ana; Pérez de Diego, Rebeca; Flores, Carlos; Rinchai, Darawan; Solé-Violán, Jordi; Deyà-Martínez, Àngela; García-Solis, Blanca; Lorenzo-Salazar, José M; Hernández-Brito, Elisa; Lanz, Anna-Lisa; Moens, Leen; Bucciol, Giorgia; Almuqamam, Mohamed; Domachowske, Joseph B; Colino, Elena; Santos-Perez, Juan Luis; Marco, Francisco M; Pignata, Claudio; Bousfiha, Aziz; Turvey, Stuart E; Bauer, Stefanie; Haerynck, Filomeen; Ocejo-Vinyals, Javier Gonzalo; Lendinez, Francisco; Prader, Seraina; Naumann-Bartsch, Nora; Pachlopnik Schmid, Jana; Biggs, Catherine M; Hildebrand, Kyla; Dreesman, Alexandra; Cárdenes, Miguel Ángel; Ailal, Fatima; Benhsaien, Ibtihal; Giardino, Giuliana; Molina-Fuentes, Agueda; Fortuny, Claudia; Madhavarapu, Swetha; Conway, Daniel H; Prando, Carolina; Schidlowski, Laire; Martínez de Saavedra Álvarez, María Teresa; Alfaro, Rafael; Rodríguez de Castro, Felipe; Meyts, Isabelle; Hauck, Fabian; Puel, Anne; Bastard, Paul; Boisson, Bertrand; Jouanguy, Emmanuelle; Abel, Laurent; Cobat, Aurélie; Zhang, Qian; Casanova, Jean-Laurent; Alsina, Laia; Rodríguez-Gallego, Carlos

Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia

RMRP启动子纯合重复导致转录本丰度显著降低,并伴有软骨毛发发育不全相关的重症联合免疫缺陷

Tan, Ryan; Rozmus, Jacob; Turvey, Stuart E; Biggs, Catherine M

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