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

Targeted deep sequencing identifies mosaicism in patients with immune dysregulation

靶向深度测序可识别免疫失调患者的嵌合现象

Schmitz, Elizabeth G; Paul, Alexander J; Ghosh, Rajarshi; Saucier, Nermina; Kolicheski, Ana; Risma, Samuel I; McDaniels, Kristen P; Liu, Michelle; Lewis, Katie L; de Jesus, Adriana A; Alehashemi, Sara; Fronick, Catrina C; Stein, David; Dominguez, Daniela; Hiraki, Linda T; Lee, Jessica H; Norman, Stephanie; Peng, Christine R; Ward, Brant R; Pettiford, Leah H; Platt, Anna; Lawrence, Monica G; Rocco, Joseph M; Al-Herz, Waleed; Zerbe, Christa S; Atkinson, T Prescott; Peng, Xiao P; Allenspach, Eric J; Hoytema van Konijnenburg, David P; Platt, Craig D; Elkins, Megan; Walter, Jolan E; Bleesing, Jack J; Klion, Amy; Ramaswami, Ramya; Uzel, Gulbu; Lionakis, Michail S; Dissanayake, Dilan; Su, Helen C; Cortese, Irene; Fuss, Ivan J; Bergerson, Jenna R E; Dropulic, Lesia; Sereti, Irini; Lisco, Andrea; Itan, Yuval; Milner, Joshua D; Bogunovic, Dusan; Goldbach-Mansky, Raphaela; Rao, V Koneti; Delmonte, Ottavia M; Notarangelo, Luigi D; Keller, Michael D; Durkee-Shock, Jessica; Cohen, Jeffrey I; Similuk, Morgan N; Holland, Steven M; Griffith, Malachi; Griffith, Obi L; Vogel, Tiphanie P; Canna, Scott; Freeman, Alexandra F; Walkiewicz, Magdalena A; Cooper, Megan A

Clinical relevance of mosaic variants detected by exome sequencing

外显子组测序检测到的嵌合变异的临床意义

Ghosh, Rajarshi; Fazal, Zeeshan; Oler, Andrew J; Tokita, Mari J; Lewis, Katie L; Paul, Alexander J; Schmitz, Elizabeth G; Saucier, Nermina; Yan, Jia; Kamen, Michael; Seifert, Bryce A; Klion, Amy D; Khoury, Paneez; Delmonte, Ottavia M; Notarangelo, Luigi D; Freeman, Alexandra F; Zerbe, Christa S; Uzel, Gulbu; Metcalfe, Dean D; Komarow, Hirsh D; Carter, Melody C; McDermott, David H; Murphy, Philip M; Olivier, Kenneth N; Fuss, Ivan; Strober, Warren; Rao, V Koneti; Bergerson, Jenna R E; Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela; Al-Herz, Waleed; Holland, Steven M; Cooper, Megan A; Similuk, Morgan N; Walkiewicz, Magdalena A

The intestinal microbiome and metabolome discern disease severity in cytotoxic T-lymphocyte-associated protein 4 deficiency

肠道微生物组和代谢组可区分细胞毒性T淋巴细胞相关蛋白4缺乏症的疾病严重程度

Chandrasekaran, Prabha; Krausz, Máté; Han, Yu; Mitsuiki, Noriko; Gabrysch, Annemarie; Nöltner, Christina; Proietti, Michele; Heller, Theo; Grou, Caroline; Calderon, Virginie; Subramanian, Poorani; Jones, Drew R; Siu, Yik; Deming, Clayton; Conlan, Sean; Holland, Steven M; Segre, Julia A; Uzel, Gulbu; Grimbacher, Bodo; Falcone, Emilia Liana

Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4(+) IL-9-expressing cells

先天性免疫缺陷揭示了人类CD4(+)IL-9表达细胞生成和维持的分子需求

Rao, Geetha; Mack, Corinne D; Nguyen, Tina; Wong, Natalie; Payne, Kathryn; Worley, Lisa; Gray, Paul E; Wong, Melanie; Hsu, Peter; Stormon, Michael O; Preece, Kahn; Suan, Daniel; O'Sullivan, Michael; Blincoe, Annaliesse K; Sinclair, Jan; Okada, Satoshi; Hambleton, Sophie; Arkwright, Peter D; Boztug, Kaan; Stepensky, Polina; Cooper, Megan A; Bezrodnik, Liliana; Nadeau, Kari C; Abolhassani, Hassan; Abraham, Roshini S; Seppänen, Mikko R J; Béziat, Vivien; Bustamante, Jacinta; Forbes Satter, Lisa R; Leiding, Jennifer W; Meyts, Isabelle; Jouanguy, Emmanuelle; Boisson-Dupuis, Stéphanie; Uzel, Gulbu; Puel, Anne; Casanova, Jean-Laurent; Tangye, Stuart G; Ma, Cindy S

GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

GIMAP5缺陷揭示了哺乳动物神经酰胺驱动的长寿保障通路

Ann Y Park #,Michael Leney-Greene #,Matthew Lynberg,Justin Q Gabrielski,Xijin Xu,Benjamin Schwarz,Lixin Zheng,Arasu Balasubramaniyam,Hyoungjun Ham,Brittany Chao,Yu Zhang,Helen F Matthews,Jing Cui,Yikun Yao,Satoshi Kubo,Jean Michel Chanchu,Aaron R Morawski,Sarah A Cook,Ping Jiang,Juan C Ravell,Yan H Cheng,Alex George,Aiman Faruqi,Alison M Pagalilauan,Jenna R E Bergerson,Sundar Ganesan,Samuel D Chauvin,Jahnavi Aluri,Joy Edwards-Hicks,Eric Bohrnsen,Caroline Tippett,Habib Omar,Leilei Xu,Geoffrey W Butcher,John Pascall,Elif Karakoc-Aydiner,Ayca Kiykim,Holden Maecker,İlhan Tezcan,Saliha Esenboga,Raul Jimenez Heredia,Deniz Akata,Saban Tekin,Altan Kara,Zarife Kuloglu,Emel Unal,Tanıl Kendirli,Figen Dogu,Esra Karabiber,T Prescott Atkinson,Claude Cochet,Odile Filhol,Catherine M Bosio,Mark M Davis,Richard P Lifton,Erika L Pearce,Oliver Daumke,Caner Aytekin,Gülseren Evirgen Şahin,Aysel Ünlüsoy Aksu,Gulbu Uzel,V Koneti Rao,Sinan Sari,Buket Dalgıç,Kaan Boztug,Deniz Cagdas,Sule Haskologlu,Aydan Ikinciogullari,David Schwefel,Silvia Vilarinho,Safa Baris,Ahmet Ozen,Helen C Su,Michael J Lenardo

Impaired development of memory B cells and antibody responses in humans and mice deficient in PD-1 signaling

PD-1信号通路缺陷的人类和小鼠的记忆B细胞发育和抗体反应受损

Masato Ogishi,Koji Kitaoka,Kim L Good-Jacobson,Darawan Rinchai,Baihao Zhang,Jun Wang,Vincent Gies,Geetha Rao,Tina Nguyen,Danielle T Avery,Taushif Khan,Megan E Smithmyer,Joseph Mackie,Rui Yang,Andrés Augusto Arias,Takaki Asano,Khoren Ponsin,Matthieu Chaldebas,Peng Zhang,Jessica N Peel,Jonathan Bohlen,Romain Lévy,Simon J Pelham,Wei-Te Lei,Ji Eun Han,Iris Fagniez,Maya Chrabieh,Candice Laine,David Langlais,Conor Gruber,Fatima Al Ali,Mahbuba Rahman,Caner Aytekin,Basilin Benson,Matthew J Dufort,Clara Domingo-Vila,Kunihiko Moriya,Mark Shlomchik,Gulbu Uzel,Paul E Gray,Daniel Suan,Kahn Preece,Ignatius Chua,Satoshi Okada,Shunsuke Chikuma,Hiroshi Kiyonari,Timothy I Tree,Dusan Bogunovic,Philippe Gros,Nico Marr,Cate Speake,Richard A Oram,Vivien Béziat,Jacinta Bustamante,Laurent Abel,Bertrand Boisson,Anne-Sophie Korganow,Cindy S Ma,Matthew B Johnson,Kenji Chamoto,Stéphanie Boisson-Dupuis,Tasuku Honjo,Jean-Laurent Casanova,Stuart G Tangye

Impaired development of memory B cells and antibody responses in humans and mice deficient in PD-1 signaling

PD-1信号通路缺陷的人类和小鼠的记忆B细胞发育和抗体反应受损

Masato Ogishi ,Koji Kitaoka ,Kim L Good-Jacobson ,Darawan Rinchai ,Baihao Zhang ,Jun Wang ,Vincent Gies ,Geetha Rao ,Tina Nguyen ,Danielle T Avery ,Taushif Khan ,Megan E Smithmyer ,Joseph Mackie ,Rui Yang ,Andrés Augusto Arias ,Takaki Asano ,Khoren Ponsin ,Matthieu Chaldebas ,Peng Zhang ,Jessica N Peel ,Jonathan Bohlen ,Romain Lévy ,Simon J Pelham ,Wei-Te Lei ,Ji Eun Han ,Iris Fagniez ,Maya Chrabieh ,Candice Laine ,David Langlais ,Conor Gruber ,Fatima Al Ali ,Mahbuba Rahman ,Caner Aytekin ,Basilin Benson ,Matthew J Dufort ,Clara Domingo-Vila ,Kunihiko Moriya ,Mark Shlomchik ,Gulbu Uzel ,Paul E Gray ,Daniel Suan ,Kahn Preece ,Ignatius Chua ,Satoshi Okada ,Shunsuke Chikuma ,Hiroshi Kiyonari ,Timothy I Tree ,Dusan Bogunovic ,Philippe Gros ,Nico Marr ,Cate Speake ,Richard A Oram ,Vivien Béziat ,Jacinta Bustamante ,Laurent Abel ,Bertrand Boisson ,Anne-Sophie Korganow ,Cindy S Ma ,Matthew B Johnson ,Kenji Chamoto ,Stéphanie Boisson-Dupuis ,Tasuku Honjo ,Jean-Laurent Casanova ,Stuart G Tangye

BTK drives neutrophil activation for sterilizing antifungal immunity

BTK 驱动中性粒细胞活化,以消除抗真菌免疫力

Jigar V Desai, Marissa A Zarakas, Andrew L Wishart, Mark Roschewski, Mariano A Aufiero, Ágnes Donkó, Gustaf Wigerblad, Neta Shlezinger, Markus Plate, Matthew R James, Jean K Lim, Gulbu Uzel, Jenna Re Bergerson, Ivan Fuss, Robert A Cramer, Luis M Franco, Emily S Clark, Wasif N Khan, Daisuke Yamanaka,

Safety but limited efficacy of donor lymphocyte infusion for post-transplantation cyclophosphamide-treated patients

供体淋巴细胞输注对接受移植后环磷酰胺治疗的患者安全但疗效有限

Shanmugasundaram, Krithika; Napier, Scott; Dimitrova, Dimana; Stokes, Anita; Wilder, Jennifer; Chai, Amy; Lisco, Andrea; Anderson, Megan V; Sereti, Irini; Uzel, Gulbu; Freeman, Alexandra F; McKeown, Christi; Sponaugle, Jennifer; Sabina, Ruby; Rechache, Kamil; Hyder, Mustafa A; Kanakry, Jennifer A; Kanakry, Christopher G

Beyond FAScinating: advances in diagnosis and management of autoimmune lymphoproliferative syndrome and activated PI3 kinase δ syndrome

超越FAS:自身免疫性淋巴增生综合征和活化PI3激酶δ综合征的诊断和治疗进展

Rao, V Koneti; Pittaluga, Stefania; Uzel, Gulbu