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

CXCL9 as a novel prognostic marker to identify high-risk adults with hemophagocytic lymphohistiocytosis

CXCL9作为一种新型预后标志物,可用于识别噬血细胞性淋巴组织细胞增生症的高危成人患者

Rocco, Joseph M; Oved, Joseph H; Patel, Rikita J; Herskovits, A Zara; Nair, Namitha; Shakoory, Bita; Robertson, Thomas E; Dileo, Rachel; Jacobs, Max W; Zerbe, Christa S; Gordon, Rachael A; Ombrello, Michael J; Ombrello, Amanda K; Shah, Nirali N; Dimitrova, Dimana; Kanakry, Jennifer; Zelenetz, Andrew D; Moskowitz, Alison J; Stuver, Robert; Epstein-Peterson, Zachary D; Ghione, Paola; Mead, Elena; Shahid, Zainab; Raj, Sandeep; Park, Jae H; Giralt, Sergio A; Maillard, Ivan; Geyer, Mark B; Xiao, Wenbin; Dogan, Ahmet; Lim, Megan; Zwicker, Jeffrey I; Mones, Jodi; Parameswaran, Rehka; Banaszak, Lauren; Geller, Shamir; Santomasso, Bianca D; Shouval, Roni; Curran, Kevin J; Delmonte, Ottavia; Notarangelo, Luigi D; Cohen, Jeffrey I; Holland, Steven M; Salles, Gilles; Horwitz, Steven M; Vardhana, Santosha A; Perales, Miguel-Angel; Schwartz, Daniella; Sereti, Irini; Johnson, William T

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

IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes

IL12RB1 缺乏症在北美出现:临床表型不断扩展

Wang, Chen; Marciano, Beatriz E; Harris, Annalie J; Johnston, Alicia M; Apaydin Arikan, Evsen; Bayer, Diana K; Solomon, Benjamin D; Price, Nathan B; Platt, Craig D; Modi, Arunkumar J; Shaker, Marcus S; Seroogy, Christine M; Johnson, Daniel; Kleiner, David E; Chirombo Kluczynski, Lavenda; Anderson, Victoria L; Daub, Janine R; Berghout, Joanne; Oler, Andrew J; Walkiewicz, Magdalena A; Similuk, Morgan; Lewis, David B; Galgiani, John N; Freeman, Alexandra F; Rosen, Lindsey B; Hsu, Amy P; Zerbe, Christa S; Holland, Steven M

Clinical characteristics, management, and hematopoietic cell transplantation of patients with TLR8 gain-of-function

TLR8功能获得性突变患者的临床特征、治疗和造血干细胞移植

Arnold, Danielle E; Kaviany, Saara; Aluri, Jahnavi; Calvo, Katherine R; Mehta, Sarah S; Tobin, Joshua M; Schuettpelz, Laura G; Saucier, Nermina; Schmitz, Elizabeth G; Murguía-Favela, Luis; Wright, Nicola A M; De Ravin, Suk See; Rao, V Koneti; Holland, Steven M; Bleesing, Jack J; Loughran, Thomas P Jr; Feith, David J; Powell, Jonathan; Ratan, Aakrosh; Warren, Julia T; Pai, Sung-Yun; Bednarski, Jeffrey J; Connelly, James A; Cooper, Megan A

Hepatic Manifestations of STAT1 Gain-of-Function Variants

STAT1功能获得性变异的肝脏表现

Aleyadeh, Wesam; Lin, Wanrun; Pirzada, Sana A; Fathma, Sawsan; Bergerson, Jenna R E; Lionakis, Michail S; Holland, Steven M; Kleiner, David E; Heller, Theo

What We Have Here Is a Failure to Communicate: Interleukin-12 / Interferon-gamma Axis Defects and Mendelian Susceptibility to Mycobacterial Disease

我们这里面临的是沟通障碍:白细胞介素-12/干扰素-γ轴缺陷与分枝杆菌病的孟德尔易感性

Johnston, Alicia Μ; Rider, Nicholas L; Freeman, Alexandra F; Holland, Steven M; Orange, Jordan S; Platt, Craig D; Anglero, Andrea Carlo; Tsoulis, Michael; Zinn, Daniel; Passarelli, Patrick; Shaker, Marcus

Beyond Fumigatus: a molecular portrait of clinical Aspergillus diversity, pathogenicity, and antifungal resistance

超越烟曲霉:临床曲霉菌多样性、致病性和抗真菌耐药性的分子图谱

Aneke, Chioma I; Shahegh, Sherin S; Freeman, Alexandra F; Zerbe, Christa; Kwon-Chung, Kyung J; Holland, Steven; Fennelly, Kevin; Lionakis, Michail S; Seyedmousavi, Amir

Clinical characteristics of pulmonary non-tuberculous mycobacterial disease with CFTR variants in the Japanese population

日本人群中CFTR变异型肺部非结核分枝杆菌病的临床特征

Nagao, Genta; Namkoong, Ho; Tanaka, Hiromu; Asakura, Takanori; Hara, Akemi; Fukunaga, Naoki; Kaji, Masanori; Azekawa, Shuhei; Nakagawara, Kensuke; Morita, Atsuho; Kamata, Hirofumi; Nishimura, Tomoyasu; Miya, Fuyuki; Kosaki, Kenjiro; Fukunaga, Koichi; Holland, Steven M; Hasegawa, Naoki

Anti-cytokine autoantibodies in cryptococcal meningitis differ by HIV status: A cross-sectional analysis

隐球菌性脑膜炎中抗细胞因子自身抗体的水平因HIV感染状况而异:一项横断面分析

Yoon, Hyunah; Harris, Annalie J; Nakouzi, Antonio; Day, Jeremy; Abers, Michael; Holland, Steven M; Rosen, Lindsey B; Pirofski, Liise-Anne