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

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

Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency

病例报告:RAC2 R68W纯合激活突变导致联合免疫缺陷的特征分析

Desjardins, Aléhandra; Marois, Louis; Donkó, Ágnes; Cros, Guilhem; Bédard, Marc-Antoine; Paul, Marie-Lorna; Hsu, Amy P; Darbinian, Emma; Gosse, Géraldine; Leto, Thomas L; Chapdelaine, Hugo; Massé, Chantal; Fernandez, Isabel; Touzot, Fabien; Sebajang, Herawaty; Falcone, Emilia Liana

Reliable genetic diagnosis of NCF1 (p47(phox))-deficient chronic granulomatous disease using high-throughput sequencing

利用高通量测序对NCF1(p47(phox))缺陷型慢性肉芽肿病进行可靠的基因诊断

Hsu, Amy P; Karlins, Eric; Lack, Justin; Pepper, T Joseph; Lau, Karen; Marshall-Batty, Kimberly R; Long Priel, Debra; Davis, Joie; Fink, Danielle L; Zerbe, Christa S; Gallin, John I; Malech, Harry L; Holland, Steven M; Kuhns, Douglas B

Reply to Brown and Burleigh's "Molecular and Cellular Mechanisms Leading to Topical Steroid Withdrawal Syndrome Remain Unexplained and Warrant Further Research"

对布朗和伯利的文章“导致局部类固醇戒断综合征的分子和细胞机制仍未得到解释,值得进一步研究”的回应

Shobnam, Nadia; Ratley, Grace; Saksena, Sarini; Yadav, Manoj; Chaudhary, Prem Prashant; Sun, Ashleigh A; Howe, Katherine N; Gadkari, Manasi; Franco, Luis M; Ganesan, Sundar; McCann, Katelyn J; Hsu, Amy P; Kanakabandi, Kishore; Ricklefs, Stacy; Lack, Justin; Yu, Weiming; Similuk, Morgan; Walkiewicz, Magdalena A; Gardner, Donna D; Barta, Kelly; Tullos, Kathryn; Myles, Ian A

Anti-Interleukin-23 Autoantibodies in Adult-Onset Immunodeficiency

成人发病型免疫缺陷中的抗白细胞介素-23自身抗体

Cheng, Aristine; Kashyap, Anuj; Salvator, Helene; Rosen, Lindsey B; Colby, Devon; Ardeshir-Larijani, Fatemeh; Loehrer, Patrick J; Ding, Li; Lugo Reyes, Saul O; Riminton, Sean; Ballman, Madison; Rocco, Joseph M; Marciano, Beatriz E; Freeman, Alexandra F; Browne, Sarah K; Hsu, Amy P; Zelazny, Adrian; Rajan, Arun; Sereti, Irini; Zerbe, Christa S; Lionakis, Michail S; Holland, Steven M

Germline mutations in a G protein identify signaling cross-talk in T cells

G蛋白的种系突变可揭示T细胞中的信号传导串扰

Ham, Hyoungjun; Jing, Huie; Lamborn, Ian T; Kober, Megan M; Koval, Alexey; Berchiche, Yamina A; Anderson, D Eric; Druey, Kirk M; Mandl, Judith N; Isidor, Bertrand; Ferreira, Carlos R; Freeman, Alexandra F; Ganesan, Sundar; Karsak, Meliha; Mustillo, Peter J; Teo, Juliana; Zolkipli-Cunningham, Zarazuela; Chatron, Nicolas; Lecoquierre, François; Oler, Andrew J; Schmid, Jana Pachlopnik; Kuhns, Douglas B; Xu, Xuehua; Hauck, Fabian; Al-Herz, Waleed; Wagner, Matias; Terhal, Paulien A; Muurinen, Mari; Barlogis, Vincent; Cruz, Phillip; Danielson, Jeffrey; Stewart, Helen; Loid, Petra; Rading, Sebastian; Keren, Boris; Pfundt, Rolph; Zarember, Kol A; Vill, Katharina; Potocki, Lorraine; Olivier, Kenneth N; Lesca, Gaetan; Faivre, Laurence; Wong, Melanie; Puel, Anne; Chou, Janet; Tusseau, Maud; Moutsopoulos, Niki M; Matthews, Helen F; Simons, Cas; Taft, Ryan J; Soldatos, Ariane; Masle-Farquhar, Etienne; Pittaluga, Stefania; Brink, Robert; Fink, Danielle L; Kong, Heidi H; Kabat, Juraj; Kim, Woo Sung; Bierhals, Tatjana; Meguro, Kazuyuki; Hsu, Amy P; Gu, Jingwen; Stoddard, Jennifer; Banos-Pinero, Benito; Slack, Maria; Trivellin, Giampaolo; Mazel, Benoît; Soomann, Maarja; Li, Samuel; Watts, Val J; Stratakis, Constantine A; Rodriguez-Quevedo, Maria F; Bruel, Ange-Line; Lipsanen-Nyman, Marita; Saultier, Paul; Jain, Rashmi; Lehalle, Daphne; Torres, Daniel; Sullivan, Kathleen E; Barbarot, Sébastien; Neu, Axel; Duffourd, Yannis; Similuk, Morgan; McWalter, Kirsty; Blanc, Pierre; Bézieau, Stéphane; Jin, Tian; Geha, Raif S; Casanova, Jean-Laurent; Makitie, Outi M; Kubisch, Christian; Edery, Patrick; Christodoulou, John; Germain, Ronald N; Goodnow, Christopher C; Sakmar, Thomas P; Billadeau, Daniel D; Küry, Sébastien; Katanaev, Vladimir L; Zhang, Yu; Lenardo, Michael J; Su, Helen C

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

The Known and Unknown "Knowns" of Human Susceptibility to Coccidioidomycosis

人类对球孢子菌病易感性的已知和未知“已知”因素

Hsu, Amy P

Evaluating Cognitive Impairment in a Large Health Care System: The Cognition in Primary Care Program

大型医疗保健系统中认知障碍的评估:初级保健认知计划

Gaster, Barak; Suchsland, Monica Zigman; Fitzpatrick, Annette L; Liao, Joshua M; Belza, Basia; Hsu, Amy P; McKiddy, Sarah; Park, Christina; Olivari, Benjamin S; Singh, Angad P; Raetz, Jaqueline

Topical Steroid Withdrawal is a Targetable Excess of Mitochondrial NAD

局部类固醇停药是线粒体NAD过量的可靶向治疗目标。

Shobnam, Nadia; Saksena, Sarini; Ratley, Grace; Yadav, Manoj; Chaudhary, Prem Prashant; Sun, Ashleigh A; Howe, Katherine N; Gadkari, Manasi; Franco, Luis M; Ganesan, Sundar; McCann, Katelyn J; Hsu, Amy P; Kanakabandi, Kishore; Ricklefs, Stacy; Lack, Justin; Yu, Weiming; Similuk, Morgan; Walkiewicz, Magdalena A; Gardner, Donna D; Barta, Kelly; Tullos, Kathryn; Myles, Ian A