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

APDS in a 3-year-old boy presenting with EBV viremia and hodgkin lymphoma associated with a novel germline heterozygous variant in PIK3CD and with characteristic immune phenotype but no upregulation of the T cell mTOR pathway

一名3岁男孩出现EB病毒血症和霍奇金淋巴瘤,并伴有PIK3CD基因的新型种系杂合变异,最终确诊为APDS,且具有特征性免疫表型,但T细胞mTOR通路未见上调。

Bakshi, Devyani; Wong-Pack, Andrew; Marjerrison, Stacey; Brager, Rae; Butte, Manish J; Thauland, Timothy J; Garkaby, Jenny

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

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

Delayed diagnosis of STAT1 gain-of-function variant in a patient with multiple endocrine autoimmunity and recurrent fungal infections

一名患有多发性内分泌自身免疫性疾病和复发性真菌感染的患者,其STAT1功能获得性变异的诊断被延误。

Sparanese, Sydney; Brager, Rae; Fahmy, David; Garkaby, Jenny

A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023

一项独特的新生儿重症联合免疫缺陷筛查综合模式——安大略省单中心2013-2023年经验总结

Al Ghamdi, Abdulrahman; Pachul, Jessica Willett; Al Shaqaq, Azhar; Fraser, Meghan; Watts-Dickens, Abby; Yang, Nicole; Vong, Linda; Kim, Vy H D; Siu, Victoria Mok; Pham-Huy, Anne; Brager, Rae; Reid, Brenda; Roifman, Chaim M

Neonatal abstinence syndrome is a potential cause of low TREC copy number

新生儿戒断综合征是TREC拷贝数低的一个潜在原因

Adatia, Adil; Ling, Ling; Chakraborty, Pranesh; Brick, Lauren; Brager, Rae