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

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

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