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

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

Association of CD19(+)-targeted chimeric antigen receptor (CAR) T-cell therapy with hypogammaglobulinemia, infection, and mortality

CD19(+)靶向嵌合抗原受体(CAR)T细胞疗法与低丙种球蛋白血症、感染和死亡率的关联

Sutherland, Natalia M; Zhou, Baijun; Zhang, Lingxiao; Ong, Mei-Sing; Hong, Joseph S; Pak, Andrew; Liu, Katherine J; Frigault, Matthew J; Maus, Marcela V; Hill, Joshua A; Reynolds, Kerry; Walter, Jolan E; Camargo, Carlos A Jr; Barmettler, Sara

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

Congenital T-cell activation impairs transitional-to-follicular B-cell maturation in humans

先天性T细胞活化会损害人类过渡型B细胞向滤泡型B细胞的成熟过程。

Allard-Chamard, Hugues; Hillier, Kirsty; Ramseier, Michelle L; Bertocchi, Alice; Kaneko, Naoki; Premo, Katherine; Yuen, Grace; Karpel, Marshall; Mahajan, Vinay S; Tsekeri, Christina; Hong, Joseph S; Vencic, Jean; Crotty, Rory; Sharda, Anish V; Barmettler, Sara; Westermann-Clark, Emma; Walter, Jolan E; Ghebremichael, Musie; Shalek, Alex K; Farmer, Jocelyn R; Pillai, Shiv

Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report

由SH2D1A基因新变异引起的X连锁淋巴增生性疾病1型患者致命性噬血细胞性淋巴组织细胞增生症:病例报告

Boyarchuk, Oksana; Volokha, Alla; Yarema, Nataliia; Dyvoniak, Olga; Tomashivska, Tetyana; Shymanska, Ivanna; Makukh, Halyna; Walter, Jolan E

Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations

病例报告:一家族中发现一种新的CXCR4变异(p.S341Y),该家族同时存在致病性NFKB1变异和多种临床表现。

Yilmaz, Melis; Zmajkovicova, Katarina; Miller, Rahim Z; Blair, Grace; Ellison, Maryssa; Ujhazi, Boglarka; Lopez, Maria Chitty; Dasso, Joseph F; Bledsoe, Jacob R; Csomos, Krisztian; Maierhofer, Barbara; Badarau, Adriana; Pereira, Joao P; Kanarek, Henry; Geier, Christoph B; Walter, Jolan E

Efficacy, Safety, Tolerability, and Serum IgG Trough Levels of Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% in US Pediatric Patients with Primary Immunodeficiency Diseases

透明质酸酶辅助皮下注射10%免疫球蛋白治疗美国原发性免疫缺陷病儿的疗效、安全性、耐受性和血清IgG谷浓度

Patel, Niraj C; Walter, Jolan E; Wasserman, Richard L; Rubinstein, Arye; Kankirawatana, Suthida; Shepherd, Meagan W; Greco, Erin; Li, Zhaoyang; Russo-Schwarzbaum, Sharon; Saeed-Khawaja, Shumyla; McCoy, Barbara; Yel, Leman

Multi-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy

一项针对需要酶替代疗法的腺苷脱氨酶重症联合免疫缺陷病(ADA-SCID)患者的Elapegademase治疗多年注册研究

Dorsey, Morna J; Butte, Manish J; Lieberman, Jay A; Lehman, Heather; Fausnight, Tracy; Keller, Michael D; Fradette, Caroline; Hershfield, Michael S; Pozos, Tamara C; Rozova, Anna; Wall, Luke A; Bednarski, Jeffrey J; Tarrant, Teresa K; Chong, Hey J; Geng, Bob; Temin, Noemi Toiber; Laubach, Susan S; Lin, Leo; Mousallem, Talal; Walter, Jolan E

Safety and Efficacy of Intravenous Immune Globulin 10% (BIVIGAM(®)) in Children with Primary Immune Deficiency

静脉注射10%免疫球蛋白(BIVIGAM®)治疗原发性免疫缺陷儿童的安全性和有效性

Melamed, Isaac; Walter, Jolan E; Alpan, Oral; Leiding, Jennifer W