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

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them

134种生殖系PU.1变异体及其携带者的无丙种球蛋白血症患者

Knox, Ainsley V C; Cominsky, Lauren Y; Sun, Di; Cruz Cabrera, Emylette; Nolan, Brian E; Ofray, Edann; Benetti, Elisa; Visconti, Camilla; Barzaghi, Federica; Rosenzweig, Sergio D; Lawrence, Monica G; Sullivan, Kathleen E; Yoon, Samuel; Rachimi, Suzanna; Padem, Nurcicek; Conboy, Erin; Stojanovic, Maja; Petrovic, Gordana; Pasic, Srdjan; Church, Joseph; Ferdman, Ronald M; Candotti, Fabio; Arlabosse, Tiphaine; Theodoropoulou, Katerina; Dutmer, Cullen M; Maródi, László; Szücs, Gabriella; Broides, Arnon; Nahum, Amit; Levy, Jacov; Kettunen, Kaisa; Daddali, Ravindra; Seppänen, Mikko; Vänttinen, Markku; Martelius, Timi; Grönholm, Juha; Peri, Matilde; Azzari, Chiara; Ricci, Silvia; Ojaimi, Samar; Edwards, Emily S J; van Zelm, Menno C; Sun, Jinqiao; Abolhassani, Hassan; Pan-Hammarström, Qiang; Hakonarson, Hakon; Mayr, Daniel; Boztug, Kaan; Boisson, Bertrand; Casanova, Jean-Laurent; Le Coz, Carole; Poon, Gregory M K; Romberg, Neil

Clinical and functional spectrum of RAC2-related immunodeficiency.

RAC2相关免疫缺陷的临床和功能谱

Donkó Ágnes, Sharapova Svetlana O, Kabat Juraj, Ganesan Sundar, Hauck Fabian H, Bergerson Jenna R E, Marois Louis, Abbott Jordan, Moshous Despina, Williams Kelli W, Campbell Nicholas, Martin Paul L, Lagresle-Peyrou Chantal, Trojan Timothy, Kuzmenko Natalia B, Deordieva Ekaterina A, Raykina Elena V, Abers Michael S, Abolhassani Hassan, Barlogis Vincent, Milla Carlos, Hall Geoffrey, Mousallem Talal, Church Joseph, Kapoor Neena, Cros Guilhem, Chapdelaine Hugo, Franco-Jarava Clara, Lopez-Lerma Ingrid, Miano Maurizio, Leiding Jennifer W, Klein Christoph, Stasia Marie José, Fischer Alain, Hsiao Kuang-Chih, Martelius Timi, Seppänen Mikko R J, Barmettler Sara, Walter Jolan, Masmas Tania N, Mukhina Anna A, Falcone Emilia Liana, Kracker Sven, Shcherbina Anna, Holland Steven M, Leto Thomas L, Hsu Amy P

BT595, a 10% Human Normal Immunoglobulin, for Replacement Therapy of Primary Immunodeficiency Disease: Results of a Subcohort Analysis in Children

BT595(一种10%人正常免疫球蛋白)用于原发性免疫缺陷病替代疗法:儿童亚组分析结果

Kriván, Gergely; Borte, Michael; Soler-Palacin, Pere; Church, Joseph A; Csurke, Ildiko; Harris, James B; Lieberman, Jay A; Melamed, Isaac R; Moy, James N; Simon, Reka; Aigner, Silke; Lentze, Stephan; Staiger, Christiane

Modulation of BCL-2 in Both T Cells and Tumor Cells to Enhance Chimeric Antigen Receptor T-cell Immunotherapy against Cancer

调节 T 细胞和肿瘤细胞中的 BCL-2 以增强嵌合抗原受体 T 细胞抗癌免疫疗法

Yong Gu Lee, Puneeth Guruprasad, Guido Ghilardi, Raymone Pajarillo, Christopher Tor Sauter, Ruchi Patel, Hatcher J Ballard, Seok Jae Hong, Inkook Chun, Nicholas Yang, Kimberly V Amelsberg, Katherine D Cummins, Jakub Svoboda, Saar Gill, Elise A Chong, Khrystyna North, Sarah E Church, Joseph A Fraiett

Talin variant P229S compromises integrin activation and associates with multifaceted clinical symptoms

Talin 变异体 P229S 会损害整合素激活,并与多种临床症状相关。

Azizi, Latifeh; Varela, Lorena; Turkki, Paula; Mykuliak, Vasyl V; Korpela, Sanna; Ihalainen, Teemu O; Church, Joseph; Hytönen, Vesa P; Goult, Benjamin T

Exclusive enteral nutrition induced sustained changes in the microbiota and improved inflammatory bowel disease in a pediatric patient with chronic granulomatous disease

完全肠内营养诱导了肠道菌群的持续变化,并改善了一名患有慢性肉芽肿病的儿科患者的炎症性肠病。

Falcone, Emilia Liana; Han, Yu; Kreuzburg, Samantha; Heller, Theo; Church, Joseph A; Grou, Caroline; Calderon, Virginie; Subramanian, Poorani; Deming, Clayton; Conlan, Sean; Segre, Julia A; Holland, Steven M; Zerbe, Christa S

Undetectable NK Cells due to the FCGR3A Variant, L66H, Which May Not Be Directly Disease-Causing

由于 FCGR3A 变体 L66H 导致 NK 细胞无法检测,而这种变体可能并非直接致病。

Izadi, Neema; Sun, Miao; Mace, Emily M; O'Gorman, Maurice R G; Church, Joseph A

White matter of perinatally HIV infected older youths shows low frequency fluctuations that may reflect glial cycling

围产期感染 HIV 的老年青少年的白质显示出低频波动,这可能反映了神经胶质细胞的周期性变化。

Sarma, Manoj K; Pal, Amrita; Keller, Margaret A; Welikson, Tamara; Ventura, Joseph; Michalik, David E; Nielsen-Saines, Karin; Deville, Jaime; Kovacs, Andrea; Operskalski, Eva; Church, Joseph A; Macey, Paul M; Biswal, Bharat; Thomas, M Albert

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects

显性激活型 RAC2 突变伴淋巴细胞减少症、免疫缺陷和细胞骨架缺陷

Hsu, Amy P; Donkó, Agnes; Arrington, Megan E; Swamydas, Muthulekha; Fink, Danielle; Das, Arundhoti; Escobedo, Omar; Bonagura, Vincent; Szabolcs, Paul; Steinberg, Harry N; Bergerson, Jenna; Skoskiewicz, Amanda; Makhija, Melanie; Davis, Joie; Foruraghi, Ladan; Palmer, Cindy; Fuleihan, Ramsay L; Church, Joseph A; Bhandoola, Avinash; Lionakis, Michail S; Campbell, Sharon; Leto, Thomas L; Kuhns, Douglas B; Holland, Steven M

Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects

早产儿和足月新生儿(无免疫缺陷)淋巴细胞亚群参考区间

Amatuni, George S; Sciortino, Stanley; Currier, Robert J; Naides, Stanley J; Church, Joseph A; Puck, Jennifer M