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

Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report

造血干细胞移植治疗威斯科特-奥尔德里奇综合征:PIDTC报告

Alexander, Jessie L; Dávila Saldaña, Blachy J; Brazauskas, Ruta; Dammalapati, Sravya Gethika; Griffith, Linda M; Shah, Ami J; Shimano, Kristin A; Ochs, Hans D; Bleesing, Jack J; Ebens, Christen L; Kapadia, Malika; Bauchat, Andrea; Kapoor, Neena; Oved, Joseph H; Eissa, Hesham; Lust, Hannah; Keller, Michael D; Haines, Hilary; Chandrakasan, Shanmuganathan; Talano, Julie-An; Rayes, Ahmad; Madden, Lisa; Shereck, Evan; Miller, Holly K; Satter, Lisa Forbes; Martinez, Caridad; Rozmus, Jacob; Bednarski, Jeffrey J; Yu, Lolie C; Chellapandian, Deepakbabu; Aquino, Victor M; Knutsen, Alan; Chong, Hey; Chopek, Ashley; Gillio, Alfred P; Joshi, Avni; Rangarajan, Hemalatha; Moore, Theodore B; Andolina, Jeffrey R; DeSantes, Kenneth B; Vander Lugt, Mark; Prockop, Susan E; Shyr, David C; Sullivan, Kathleen E; Parikh, Suhag; Weinacht, Katja G; Torgerson, Troy R; Marsh, Rebecca; Dvorak, Christopher C; Chan, Alice Y; Haddad, Elie; Heimall, Jennifer R; Pulsipher, Michael A; Leiding, Jennifer W; Kohn, Donald B; Puck, Jennifer M; Notarangelo, Luigi D; Rawlings, David J; Cowan, Morton J; Petrovic, Aleksandra; Pai, Sung-Yun; Burroughs, Lauri M

IL2RG-related immunodeficiencies: from SCID to atypical presentations

IL2RG相关免疫缺陷:从重症联合免疫缺陷病到非典型表现

Briassouli, Efrossini; Marinakis, Nikolaos; Spoulou, Vana; Notarangelo, Luigi D

Umbilical Cord Blood Transplantation Provides an Alternative for Patients With Chronic Granulomatous Disease Lacking HLA-Matched Donors: A PIDTC Report

脐带血移植为缺乏HLA匹配供体的慢性肉芽肿病患者提供了一种替代方案:PIDTC报告

Arnold, Danielle E; Leiding, Jennifer W; Logan, Brent; Marsh, Rebecca A; Griffith, Linda M; Grunebaum, Eyal; Murguía-Favela, Luis; Mallhi, Kanwaldeep; Chellapandian, Deepakbabu; Deal, Christin L; Lim, Stephanie Si; Prasad, Vinod; Heimall, Jennifer; Chandrakasan, Shanmuganathan; Chen, Karin; Yu, Lolie C; Seroogy, Christine M; Gillio, Alfred; Bednarski, Jeffrey J; Kapoor, Neena; Moore, Theodore B; Cuvelier, Geoffrey D E; Touzot, Fabien; Rayes, Ahmad; Ebens, Christen L; Schaefer, Edo; Bauchat, Andrea; Chopek, Ashley; Burroughs, Lauri; Cowan, Morton J; Dvorak, Christopher C; Haddad, Elie; Kohn, Donald B; Notarangelo, Luigi D; Pai, Sung-Yun; Puck, Jennifer M; Pulsipher, Michael A; Torgerson, Troy; Malech, Harry L; Kang, Elizabeth M; Parikh, Suhag

Clinical spectrum of Wiskott-Aldrich syndrome carriers: Self-reported survey of 193 carriers

Wiskott-Aldrich综合征携带者的临床表现谱:193名携带者的自我报告调查

Chandrakasan, Shanmuganathan; Westbrook, Adrianna; Griffith, Linda M; Hagin, David; Iyengar, Sumathi; Mangurian, Christina; Scalchunes, Chris; Sullivan, Kathleen E; Zablocki, Akiva; Bakshi, Nitya; Sinha, Cynthia; Burroughs, Lauri M; Chan, Alice Y; Dvorak, Christopher C; Haddad, Elie; Heimall, Jennifer; Kohn, Donald B; Leiding, Jennifer W; Notarangelo, Luigi D; Pai, Sung-Yun; Puck, Jennifer M; Pulsipher, Michael A; Marsh, Rebecca A; Torgerson, Troy; Cowan, Morton J; Ochs, Hans D; Parikh, Suhag

Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency

磷酸葡萄糖变位酶-3缺乏症的扩展临床表型和长期预后

Wang, Chen; Patel, Meera; Urban, Amanda; Nelson, Celeste G; DiMaggio, Thomas; Heller, Theo; Cowen, Edward W; Kong, Heidi H; Kenney, Heather A; Santangeli, Enrico; Wang, Yanhan; Toribio-Dionicio, Crhistian; Akar-Ghibril, Nicole; Adeli, Mehdi; Gonzalez, Corina E; Holland, Steven M; Notarangelo, Luigi D; Milner, Joshua D; Lyons, Jonathan J; Freeman, Alexandra F

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

Neurodevelopmental outcomes following hematopoietic cell transplantation for patients with severe combined immunodeficiency (SCID): A PIDTC study

造血干细胞移植治疗重症联合免疫缺陷(SCID)患者的神经发育结局:一项PIDTC研究

Brumm, Virdette L; Kidd, Sharon A; Logan, Brent R; Chunara, Farheen; Heimall, Jennifer; Griffith, Linda M; Kohn, Donald B; Sanchez, Lauren; Bednarski, Jeffrey J; Martinez, Caridad; Lugt, Mark Vander; Kapoor, Neena; Wright, Nicola; Spitzer, Barbara; Oved, Joseph H; Chandra, Sharat; Chellapandian, Deepak; Ebens, Christen L; Petrovic, Aleks; Rayes, Ahmad; Haines, Hilary L; Lust, Hannah; Schofield, Hannah-Lise Tirado; Christopher, Lauren; Harris, Lynnette L; Satter, Lisa Forbes; Burroughs, Lauri; Dvorak, Christopher C; Haddad, Elie; Leiding, Jennifer W; Marsh, Rebecca A; Notarangelo, Luigi D; Pai, Sung Yun; Pulsipher, Michael A; Puck, Jennifer M; Cowan, Morton J; Shah, Ami J