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

Unmanipulated bone marrow infusion without conditioning can rescue RECQL4 (-/-) severe combined immunodeficiency

未经处理的骨髓输注(无需预处理)可以挽救RECQL4(-/-)重症联合免疫缺陷患者。

Grier, Alexandra E; Bosticardo, Marita; Pala, Francesca; Delmonte, Ottavia M; Amini, Kayla; Anaya, Eduardo; Romberg, Neil; McClory, Susan E; Bunin, Nancy J; Abdalgani, Manar; Notarangelo, Luigi D; Heimall, Jennifer

Publisher Correction: TCF1 and LEF1 promote B-1a cell homeostasis and regulatory function

出版商更正:TCF1 和 LEF1 促进 B-1a 细胞稳态和调节功能

Shen, Qian; Wang, Hao; Roco, Jonathan A; Meng, Xiangpeng; Bosticardo, Marita; Hodges, Marie; Battaglia, Michael; Feng, Zhi-Ping; Talks, Benjamin James; Powell, Jason; Shanmugiah, Vijaya Baskar Mahalingam; Chu, Julia; Rahman, Najib M; Elsheikh, Alguili; Chakravarty, Probir; Grenov, Amalie; Emmerich, Max; Delmonte, Ottavia M; Freeman, Alexandra F; Keller, Michael D; Belaid, Brahim; Papa, Ilenia; Lee, James C; Cañete, Pablo F; Gonzalez-Figueroa, Paula; Zhang, Yaoyuan; Xue, Hai-Hui; Turajlic, Samra; Notarangelo, Luigi D; Haniffa, Muzlifah; Garrett-Sinha, Lee Ann; Parry, Helen M; Kanellakis, Nikolaos I; Vinuesa, Carola G

TGFβ links EBV to multisystem inflammatory syndrome in children.

TGFβ 将 EBV 与儿童多系统炎症综合征联系起来

Goetzke Carl Christoph, Massoud Mona, Frischbutter Stefan, Guerra Gabriela Maria, Ferreira-Gomes Marta, Heinrich Frederik, von Stuckrad Anne Sae Lim, Wisniewski Sebastian, Licha Jan Robin, Bondareva Marina, Ehlers Lisa, Khaldi-Plassart Samira, Javouhey Etienne, Pons Sylvie, Trouillet-Assant Sophie, Ozsurekci Yasemin, Zhang Yu, Poli Maria Cecilia, Discepolo Valentina, Lo Vecchio Andrea, Sahin Bengü, Verboom Murielle, Hallensleben Michael, Heuhsen Anja Isabelle, Astudillo Camila, Espinosa Yazmin, Vial Cox Maria Cecilia, Dobbs Kerry, Delmonte Ottavia M, Montealegre Sanchez Gina A, Magliocco Mary, Barron Karyl, Danielson Jeffrey, Petrov Lev, Unterwalder Nadine, Sawitzki Birgit, Matz Mareen, Lehmann Katrin, Gratopp Alexander, von Bernuth Horst, Burkhardt Lisa-Marie, Wiese Niklas, Peter Lena, Schmueck-Henneresse Michael, Amini Leila, Maurer Marcus, Roehmel Jobst Fridolin, Gewurz Benjamin E, Yonker Lael M, Witkowski Mario, Kruglov Andrey, Mall Marcus Alexander, Su Helen C, Ozen Seza, Radbruch Andreas, Belot Alexandre, Durek Pawel, Kallinich Tilmann, Mashreghi Mir-Farzin

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

对人类 RAG 缺陷的多组学分析揭示了独特的免疫失调模式,但具有共同的炎症特征。

Bosticardo Marita, Dobbs Kerry, Delmonte Ottavia M, Martins Andrew J, Pala Francesca, Kawai Tomoki, Kenney Heather, Magro Gloria, Rosen Lindsey B, Yamazaki Yasuhiro, Yu Hsin-Hui, Calzoni Enrica, Lee Yu Nee, Liu Can, Stoddard Jennifer, Niemela Julie, Fink Danielle, Castagnoli Riccardo, Ramba Meredith, Cheng Aristine, Riley Deanna, Oikonomou Vasileios, Shaw Elana, Belaid Brahim, Keles Sevgi, Al-Herz Waleed, Cancrini Caterina, Cifaldi Cristina, Baris Safa, Sharapova Svetlana, Schuetz Catharina, Gennery Andrew R, Freeman Alexandra F, Somech Raz, Choo Sharon, Giliani Silvia C, Güngör Tayfun, Drozdov Daniel, Meyts Isabelle, Moshous Despina, Neven Benedicte, Abraham Roshini S, El-Marsafy Aisha, Kanariou Maria, King Alejandra, Licciardi Francesco, Cruz-Muñoz Mario E, Palma Paolo, Poli Cecilia, Adeli Mehdi, Algeri Mattia, Alroqi Fayhan J, Bastard Paul, Bergerson Jenna R E, Booth Claire, Brett Ana, Burns Siobhan O, Butte Manish J, Padem Nurcicek, de la Morena M, Dbaibo Ghassan, de Ravin Suk See, Dimitrova Dimana, Djidjik Reda, Dorna Mayra B, Dutmer Cullen M, Elfeky Reem, Facchetti Fabio, Fuleihan Ramsay L, Geha Raif S, Gonzalez-Granado Luis I, Haljasmägi Liis, Ale Hanadys, Hayward Anthony, Hifanova Anna M, Ip Winnie, Kaplan Blanka, Kapoor Neena, Karakoc-Aydiner Elif, Kärner Jaanika, Keller Michael D, Dávila Saldaña Blachy J, Kiykim Ayça, Kuijpers Taco W, Kuznetsova Elena E, Latysheva Elena A, Leiding Jennifer W, Locatelli Franco, Alva-Lozada Guisela, McCusker Christine, Celmeli Fatih, Morsheimer Megan, Ozen Ahmet, Parvaneh Nima, Pasic Srdjan, Plebani Alessandro, Preece Kahn, Prockop Susan, Sakovich Inga S, Starkova Elena E, Torgerson Troy, Verbsky James, Walter Jolan E, Ward Brant, Wisner Elizabeth L, Draper Deborah, Myint-Hpu Katherine, Truong Pooi M, Lionakis Michail S, Similuk Morgan B, Walkiewicz Magdalena A, Klion Amy, Holland Steven M, Oguz Cihan, Bogunovic Dusan, Kisand Kai, Su Helen C, Tsang John S, Kuhns Douglas, Villa Anna, Rosenzweig Sergio D, Pittaluga Stefania, Notarangelo Luigi D

Prior SARS-CoV-2 infection affects adaptive immune responses to Omicron BA.4/BA.5 mRNA booster

既往SARS-CoV-2感染会影响对Omicron BA.4/BA.5 mRNA增强剂的适应性免疫反应

Wachter, Brianna T; Xu, Qin; Shi, Lihong; Burbelo, Peter D; Myint-Hpu, Kathy; Schwartzberg, Pamela L; Rehman, Muhammad Tauseef; Dewar, Robin L; Boswell, Kristin L; Koup, Richard A; Oguz, Cihan; Imberti, Luisa; Bellusci, Lorenza; Pourhashemi, Sara; Khurana, Surender; Manthiram, Kalpana; Notarangelo, Luigi D; Delmonte, Ottavia M

Thymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10

PSMB10基因杂合变异(G201R)导致胸腺和T细胞在严重联合免疫缺陷和奥门综合征中发挥内在的关键作用

Kuehn, Hye Sun; Bosticardo, Marita; Arrieta, Antonio C; Stoddard, Jennifer L; Pala, Francesca; Niemela, Julie E; Gil Silva, Agustin A; King, Paighton L; Esteve-Sole, Ana; Naveen, Amreen; Anaya, Eduardo; Truong, Pooi Meng; Delmonte, Ottavia M; Buchbinder, David K; Rosenzweig, Sergio D; Notarangelo, Luigi D

Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency.

部分 RAG 缺乏症炎症性肠病的免疫病理学和微生物学特征

Castagnoli Riccardo, Pala Francesca, Subramanian Poorani, Oguz Cihan, Schwarz Benjamin, Lim Ai Ing, Burns Andrew S, Fontana Elena, Bosticardo Marita, Corsino Cristina, Angelova Angelina, Delmonte Ottavia M, Kenney Heather, Riley Deanna, Smith Grace, Ott de Bruin Lisa, Oikonomou Vasileios, Dos Santos Dias Lucas, Fink Danielle, Bohrnsen Eric, Kimzey Cole D, Marseglia Gian Luigi, Alva-Lozada Guisela, Bergerson Jenna R E, Brett Ana, Brigatti Karlla W, Dimitrova Dimana, Dutmer Cullen M, Freeman Alexandra F, Ale Hanadys, Holland Steven M, Licciardi Francesco, Pasic Srdjan, Poskitt Laura E, Potts David E, Dasso Joseph F, Sharapova Svetlana O, Strauss Kevin A, Ward Brant R, Yilmaz Melis, Kuhns Douglas B, Lionakis Michail S, Daley Stephen R, Kong Heidi H, Segre Julia A, Villa Anna, Pittaluga Stefania, Walter Jolan E, Vujkovic-Cvijin Ivan, Belkaid Yasmine, Notarangelo Luigi D

A large-scale database of T-cell receptor beta sequences and binding associations from natural and synthetic exposure to SARS-CoV-2

一个包含大量T细胞受体β序列及其与SARS-CoV-2自然和人工暴露结合关联的数据库

Nolan, Sean; Vignali, Marissa; Klinger, Mark; Dines, Jennifer N; Kaplan, Ian M; Svejnoha, Emily; Craft, Tracy; Boland, Katie; Pesesky, Mitchell W; Gittelman, Rachel M; Snyder, Thomas M; Gooley, Christopher J; Semprini, Simona; Cerchione, Claudio; Nicolini, Fabio; Mazza, Massimiliano; Delmonte, Ottavia M; Dobbs, Kerry; Carreño-Tarragona, Gonzalo; Barrio, Santiago; Sambri, Vittorio; Martinelli, Giovanni; Goldman, Jason D; Heath, James R; Notarangelo, Luigi D; Martinez-Lopez, Joaquin; Howie, Bryan; Carlson, Jonathan M; Robins, Harlan S