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

Editorial: Exploring adaptive immunity in ruminants and humans: a one health perspective

社论:探索反刍动物和人类的适应性免疫:一体化健康视角

Gong, Qiuyu; Sharma, Mehul; Glass, Marla C; Kuan, Emma L; Chander, Aishwarya; Singh, Mansi; Graybuck, Lucas T; Thomson, Zachary J; LaFrance, Christian M; Rachid Zaim, Samir; Peng, Tao; Okada, Lauren Y; Genge, Palak C; Henderson, Katherine E; Dornisch, Elisabeth M; Layton, Erik D; Wittig, Peter J; Heubeck, Alexander T; Mukuka, Nelson M; Reading, Julian; Strawn, Garrett; Titus-Adewunmi, Teminijesu; Abadie, Kathleen; Roll, Charles R; Hernandez, Veronica; Parthasarathy, Vaishnavi; Stuckey, Tyanna J; Musgrove, Blessing; Swanson, Elliott; Lord, Cara; Weiss, Morgan D A; Phalen, Cole G; Mettey, Regina R; Lee, Kevin J; Johanneson, John B; Kawelo, Erin K; Garber, Jessica; Krishnan, Upaasana; Smithmyer, Megan; Wherry, E John; Vella, Laura A; Henrickson, Sarah E; Kopp, Mackenzie S; Savage, Adam K; Becker, Lynne A; Meijer, Paul; Coffey, Ernest M; Goronzy, Jorg J; Sigvardsson, Mikael; Speake, Cate; Bumol, Thomas F; Goldrath, Ananda W; Torgerson, Troy R; Li, Xiao-Jun; Skene, Peter J; Buckner, Jane H; Gustafson, Claire E; Zhang, Zhipeng; Cheng, Jie; Yang, Yi

Multi-omic profiling reveals age-related immune dynamics in healthy adults

多组学分析揭示健康成年人与年龄相关的免疫动态

Gong, Qiuyu; Sharma, Mehul; Glass, Marla C; Kuan, Emma L; Chander, Aishwarya; Singh, Mansi; Graybuck, Lucas T; Thomson, Zachary J; LaFrance, Christian M; Rachid Zaim, Samir; Peng, Tao; Okada, Lauren Y; Genge, Palak C; Henderson, Katherine E; Dornisch, Elisabeth M; Layton, Erik D; Wittig, Peter J; Heubeck, Alexander T; Mukuka, Nelson M; Reading, Julian; Strawn, Garrett; Titus-Adewunmi, Teminijesu; Abadie, Kathleen; Roll, Charles R; Hernandez, Veronica; Parthasarathy, Vaishnavi; Stuckey, Tyanna J; Musgrove, Blessing; Swanson, Elliott; Lord, Cara; Weiss, Morgan D A; Phalen, Cole G; Mettey, Regina R; Lee, Kevin J; Johanneson, John B; Kawelo, Erin K; Garber, Jessica; Krishnan, Upaasana; Smithmyer, Megan; Wherry, E John; Vella, Laura A; Henrickson, Sarah E; Kopp, Mackenzie S; Savage, Adam K; Becker, Lynne A; Meijer, Paul; Coffey, Ernest M; Goronzy, Jorg J; Sigvardsson, Mikael; Speake, Cate; Bumol, Thomas F; Goldrath, Ananda W; Torgerson, Troy R; Li, Xiao-Jun; Skene, Peter J; Buckner, Jane H; Gustafson, Claire E

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

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

STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment

STAT6 功能获得性疾病:p.D519N 是一种新的致病变异,对度普利尤单抗治疗反应良好

Samra, Simran; Cook, Eleanor; Wilson, Jessica; Sharma, Mehul; Golding, Liam; Yao, David T; Marsh, Rebecca A; Turvey, Stuart E

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

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

Transcription factor defects in inborn errors of immunity with atopy

特应性先天性免疫缺陷中的转录因子缺陷

Vaseghi-Shanjani, Maryam; Yousefi, Pariya; Sharma, Mehul; Samra, Simran; Sifuentes, Erika; Turvey, Stuart E; Biggs, Catherine M

Rare diseases of epigenetic origin: Challenges and opportunities

表观遗传起源的罕见病:挑战与机遇

Fu, Maggie P; Merrill, Sarah M; Sharma, Mehul; Gibson, William T; Turvey, Stuart E; Kobor, Michael S

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

外显子组测序能够诊断嗜酸性食管炎和严重特应性疾病患者的X连锁少汗型外胚层发育不良

Modi, Bhavi P; Del Bel, Kate L; Lin, Susan; Sharma, Mehul; Richmond, Phillip A; van Karnebeek, Clara D M; Chan, Edmond S; Avinashi, Vishal; Rehmus, Wingfield E; Biggs, Catherine M; Wasserman, Wyeth W; Turvey, Stuart E