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

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

更正: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

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

A randomised, placebo-controlled, phase III trial of leniolisib in activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): Adolescent and adult subgroup analysis

一项针对活化磷脂酰肌醇3-激酶δ (PI3Kδ) 综合征 (APDS) 的 leniolisib 随机、安慰剂对照 III 期试验:青少年和成人亚组分析

Rao, V Koneti; Šedivá, Anna; Dalm, Virgil A S H; Plebani, Alessandro; Schuetz, Catharina; Shcherbina, Anna; Trizzino, Antonino; Zharankova, Yulia; Orpia, Alanvin; Kulm, Elaine; Webster, Sharon; Körholz, Julia; Lougaris, Vassilios; Rodina, Yulia; Conlon, Niall; Coulter, Tanya; Bradt, Jason; Relan, Anurag; Uzel, Gulbu

Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome

原发性纤毛运动障碍或活化磷脂酰肌醇3-激酶δ综合征患者的重叠临床表型

Shapiro, Adam J; Wu, Eveline Y; Morris-Rosendahl, Deborah J; Olivier, Kenneth N; Dell, Sharon D; Sagel, Scott D; Dutmer, Cullen M; Mosquera, Ricardo A; Rose, Markus; O'Connor, Michael G; Ma, Chi A; Uzel, Gulbu; Vece, Timothy J; Zariwala, Maimoona A; Knowles, Michael R; Leigh, Margaret W; Davis, Stephanie D; Ferkol, Thomas W

A unified metric of human immune health

人类免疫健康的统一指标

Sparks, Rachel; Rachmaninoff, Nicholas; Lau, William W; Hirsch, Dylan C; Bansal, Neha; Martins, Andrew J; Chen, Jinguo; Liu, Candace C; Cheung, Foo; Failla, Laura E; Biancotto, Angelique; Fantoni, Giovanna; Sellers, Brian A; Chawla, Daniel G; Howe, Katherine N; Mostaghimi, Darius; Farmer, Rohit; Kotliarov, Yuri; Calvo, Katherine R; Palmer, Cindy; Daub, Janine; Foruraghi, Ladan; Kreuzburg, Samantha; Treat, Jennifer D; Urban, Amanda K; Jones, Anne; Romeo, Tina; Deuitch, Natalie T; Moura, Natalia Sampaio; Weinstein, Barbara; Moir, Susan; Ferrucci, Luigi; Barron, Karyl S; Aksentijevich, Ivona; Kleinstein, Steven H; Townsley, Danielle M; Young, Neal S; Frischmeyer-Guerrerio, Pamela A; Uzel, Gulbu; Pinto-Patarroyo, Gineth Paola; Cudrici, Cornelia D; Hoffmann, Patrycja; Stone, Deborah L; Ombrello, Amanda K; Freeman, Alexandra F; Zerbe, Christa S; Kastner, Daniel L; Holland, Steven M; Tsang, John S

Interim analysis: Open-label extension study of leniolisib for patients with APDS

中期分析:leniolisib治疗APDS患者的开放标签扩展研究

Rao, V Koneti; Kulm, Elaine; Šedivá, Anna; Plebani, Alessandro; Schuetz, Catharina; Shcherbina, Anna; Dalm, Virgil A; Trizzino, Antonino; Zharankova, Yulia; Webster, Sharon; Orpia, Alanvin; Körholz, Julia; Lougaris, Vassilios; Rodina, Yulia; Radford, Kath; Bradt, Jason; Relan, Anurag; Holland, Steven M; Lenardo, Michael J; Uzel, Gulbu

Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome

病例报告:深度测序和长读长基因组测序可改进先前对PIK3CD相关活化PI3Kδ综合征中存在性腺嵌合现象家族的遗传分析。

Orellana, Halyn; Yan, Jia; Paul, Alex; Tokita, Mari; Ding, Yan; Ghosh, Rajarshi; Lewis, Katie L; Davis, Joie; Jamal, Leila; Jodarski, Colleen; Similuk, Morgan; Saucier, Nermina; Zhu, Zhanyang; Wang, Yihe; Wu, Sitao; Ruggieri, Jason; Su, Helen C; Uzel, Gulbu; Nahas, Shareef; Cooper, Megan; Walkiewicz, Magdalena A