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

Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution

一项针对A20单倍体不足的多中心国际队列研究揭示了新的遗传结构和表型演变

He, Tingyan; Wang, Jun; Carpio Tumba, Manuel; Wang, Shihao; Luo, Youyou; Chen, Jie; Li, Guomin; Shu, Zhou; Zhang, Song; Stone, Deborah L; Huang, Yanyan; Lv, Qianying; Xiong, Wen; Wang, Jinbo; Yu, Zhongxun; Cuff, Charlotte Vera; Kairis, Elizabeth; Kethri, Akuti; Towheed, Atif; Goyette, Kyr; Karri, Urekha; Wang, Jiebiao; Liu, Chen; Romeo, Tina; Alsina, Laia; Rosenberg, Daniel L; Clemente, Daniel; López-Robledillo, Juan Carlos; Rong, Zanhua; Zhao, Xue; Jiang, Lijun; Aldave-Becerra, Juan Carlos; Muñoz-Urribarri, Ana Beatriz; Oommen, Prasad Thomas; Campbell-Stokes, Priscilla; Zhu, Meifang; Liu, Peng; Guo, Li; Xu, Yiping; Yu, Zihua; Tong, Huajuan; Qiu, Xiaojian; Zhang, Yazhi; Chen, Hongbo; Zhang, Changming; Ou, Junbin; Liu, Congcong; Liu, Jinxiang; Shen, Yunyan; Cao, Jianshe; Zhang, Xinping; Yang, Kangkang; Bao, Ying; Li, Zhijuan; Cao, Jie; Duan, Yuanhui; Liu, Fujuan; Shi, Buyun; Sun, Min; Ma, Li; Chen, Yongxing; Yang, Wei; Han, Xu; Ma, Shuangyue; Luo, Jie; Gu, Weiyue; Yu, Guoliang; Shi, Weina; Zhao, Ruiqin; Sun, Lei; Li, Wenhui; An, Yunfei; Tang, Xuemei; Zhao, Xiaodong; Han, Tongxin; Ma, Jing; Li, Yan; Piao, Yurong; Sun, Fei; Zhang, Dongfeng; Yin, Meina; Zheng, Shaoling; Li, Tianwang; Niu, Huizhong; Lin, Li; Mei, Shiyue; Zhou, Fang; Yang, Sirui; Li, Danlu; Yan, Mei; Zeng, Huasong; Zeng, Ping; Zheng, Wenjie; Li, Xiaozhong; Li, Xiaolin; Liu, Yuling; Huang, Lijuan; Yu, Haiguo; Fan, Zhidan; Shen, Min; Lu, Meiping; Fang, Zhihao; Rimland, Casey Allison; Song, Hongmei; Peterson, Lance W; Yousuf Al-Nesf, Maryam Ali; Aqel, Sami; Mudawi, Dalal Sideeg; Raje, Nikita; Slowik, Voytek; Harris, Julia G; Snyder, Brenda; Scheffler-Mendoza, Selma; Yamazaki-Nakashimada, Marco Antonio; Cooper, Megan A; Lau, Yu Lung; Cetin Gedik, Kader; Wang, Wenjie; Ying, Wenjing; Hou, Jia; Zhou, Qinhua; Sun, Bijun; Sun, Jinqiao; Wang, Xiaochuan; Ombrello, Amanda K; Huang, Ying; Wu, Hai-Lin; Sun, Li; Mao, Huawei; Yu, Xiaomin; Liu, Zhihong; Aksentijevich, Ivona; Kastner, Daniel L; Schwartz, Daniella M; Yang, Jun; Zhou, Qing

COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report

美国传染病网络(USIDNET)报告显示,先天性免疫缺陷患者接种新冠疫苗可降低与新冠肺炎相关的住院和重症监护需求。

McDonnell, John; Cousins, Kimberley; Younger, M Elizabeth M; Lane, Adam; Abolhassani, Hassan; Abraham, Roshini S; Al-Tamemi, Salem; Aldave-Becerra, Juan Carlos; Al-Faris, Eman Hesham; Alfaro-Murillo, Alberto; AlKhater, Suzan A; Alsaati, Nouf; Doss, Alexa Michelle Altman; Anderson, Melissa; Angarola, Ernestina; Ariue, Barbara; Arnold, Danielle E; Assa'ad, Amal H; Aytekin, Caner; Bank, Meaghan; Bergerson, Jenna R E; Bleesing, Jack; Boesing, John; Bouso, Carolina; Brodszki, Nicholas; Cabanillas, Diana; Cady, Carol; Callahan, Meghan A; Caorsi, Roberta; Carbone, Javier; Carrabba, Maria; Castagnoli, Riccardo; Catanzaro, Jason R; Chan, Samantha; Chandra, Sharat; Chapdelaine, Hugo; Chavoshzadeh, Zahra; Chong, Hey Jin; Connors, Lori; Consonni, Filippo; Correa-Jimenez, Oscar; Cunningham-Rundles, Charlotte; D'Astous-Gauthier, Katherine; Delmonte, Ottavia Maria; Demirdag, Yesim Yilmaz; Deshpande, Deepti R; Diaz-Cabrera, Natalie M; Dimitriades, Victoria R; El-Owaidy, Rasha; ElGhazali, Gehad; Al-Hammadi, Suleiman; Fabio, Giovanna; Faure, Astrid Schellnast; Feng, Jin; Fernandez, James M; Fill, Lauren; Franco, Guacira R; Frenck, Robert W; Fuleihan, Ramsay L; Giardino, Giuliana; Galant-Swafford, Jessica; Gambineri, Eleonora; Garabedian, Elizabeth K; Geerlinks, Ashley V; Goudouris, Ekaterini; Grecco, Octavio; Pan-Hammarström, Qiang; Khani, Hedieh Haji Khodaverdi; Hammarström, Lennart; Hartog, Nicholas L; Heimall, Jennifer; Hernandez-Molina, Gabriela; Horner, Caroline C; Hostoffer, Robert W; Hristova, Nataliya; Hsiao, Kuang-Chih; Ivankovich-Escoto, Gabriela; Jaber, Faris; Jalil, Maaz; Jamee, Mahnaz; Jean, Tiffany; Jeong, Stephanie; Jhaveri, Devi; Jordan, Michael B; Joshi, Avni Y; Kalkat, Amanpreet; Kanarek, Henry J; Kellner, Erinn S; Khojah, Amer; Khoury, Ruby; Kokron, Cristina M; Kumar, Ashish; Lecerf, Kelsey; Lehman, Heather K; Leiding, Jennifer W; Lesmana, Harry; Lim, Xin Rong; Lopes, Joao Pedro; López, Ana Laura; Tarquini, Lucia; Lundgren, Ingrid S; Magnusson, Julieann; Marinho, Ana Karolina B B; Marseglia, Gian Luigi; Martone, Giulia M; Mechtler, Annamaria G; Mendonca, Leonardo; Milner, Joshua D; Mustillo, Peter J; Naderi, Asal Gharib; Naviglio, Samuele; Nell, Jeremy; Niebur, Hana B; Notarangelo, Luigi; Oleastro, Matias; Ortega-López, María Claudia; Patel, Neil R; Petrovic, Gordana; Pignata, Claudio; Porras, Oscar; Prince, Benjamin T; Puck, Jennifer M; Qamar, Nashmia; Rabusin, Marco; Raje, Nikita; Regairaz, Lorena; Risma, Kimberly A; Ristagno, Elizabeth H; Routes, John; Roxo-Junior, Persio; Salemi, Negin; Scalchunes, Christopher; Schuval, Susan J; Seneviratne, Suranjith L; Shankar, Ashwin; Sherkat, Roya; Shin, Junghee Jenny; Siddiqi, Abeer; Signa, Sara; Sobh, Ali; Lima, Fabiana Mascarenhas Souza; Stenehjem, Kristen K; Tam, Jonathan S; Tang, Monica; Barros, Myrthes Toledo; Verbsky, James; Vergadi, Eleni; Voelker, Dayne H; Volpi, Stefano; Wall, Luke A; Wang, Christine; Williams, Kelli W; Wu, Eveline Y; Wu, Shan Shan; Zhou, Jessie J; Cook, Alexandria; Sullivan, Kathleen E; Marsh, Rebecca

Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders

免疫基因缺陷是儿童非恶性淋巴增生性疾病的特征性表现。

Forbes, Lisa R; Eckstein, Olive S; Gulati, Nitya; Peckham-Gregory, Erin C; Ozuah, Nmazuo W; Lubega, Joseph; El-Mallawany, Nader K; Agrusa, Jennifer E; Poli, M Cecilia; Vogel, Tiphanie P; Chaimowitz, Natalia S; Rider, Nicholas L; Mace, Emily M; Orange, Jordan S; Caldwell, Jason W; Aldave-Becerra, Juan C; Jolles, Stephen; Saettini, Francesco; Chong, Hey J; Stray-Pedersen, Asbjorg; Heslop, Helen E; Kamdar, Kala Y; Rouce, R Helen; Muzny, Donna M; Jhangiani, Shalini N; Gibbs, Richard A; Coban-Akdemir, Zeynep H; Lupski, James R; McClain, Kenneth L; Allen, Carl E; Chinn, Ivan K

Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia

GINS4 的部分功能丧失突变导致 NK 细胞缺陷和中性粒细胞减少症

Matilde I Conte, M Cecilia Poli, Angelo Taglialatela, Giuseppe Leuzzi, Ivan K Chinn, Sandra A Salinas, Emma Rey-Jurado, Nixa Olivares, Liz Veramendi-Espinoza, Alberto Ciccia, James R Lupski, Juan Carlos Aldave Becerra, Emily M Mace, Jordan S Orange

Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia

GINS4基因部分功能丧失突变会导致NK细胞缺陷和中性粒细胞减少症

Matilde I Conte,M Cecilia Poli,Angelo Taglialatela,Giuseppe Leuzzi,Ivan K Chinn,Sandra A Salinas,Emma Rey-Jurado,Nixa Olivares,Liz Veramendi-Espinoza,Alberto Ciccia,James R Lupski,Juan Carlos Aldave Becerra,Emily M Mace,Jordan S Orange

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis

对 275 例高 IgE 综合征和/或慢性黏膜皮肤念珠菌病患者队列进行基因分析

Frede, Natalie; Rojas-Restrepo, Jessica; Caballero Garcia de Oteyza, Andrés; Buchta, Mary; Hübscher, Katrin; Gámez-Díaz, Laura; Proietti, Michele; Saghafi, Shiva; Chavoshzadeh, Zahra; Soler-Palacin, Pere; Galal, Nermeen; Adeli, Mehdi; Aldave-Becerra, Juan Carlos; Al-Ddafari, Moudjahed Saleh; Ardenyz, Ömür; Atkinson, T Prescott; Kut, Fulya Bektas; Çelmeli, Fatih; Rees, Helen; Kilic, Sara S; Kirovski, Ilija; Klein, Christoph; Kobbe, Robin; Korganow, Anne-Sophie; Lilic, Desa; Lunt, Peter; Makwana, Niten; Metin, Ayse; Özgür, Tuba Turul; Karakas, Ayse Akman; Seneviratne, Suranjith; Sherkat, Roya; Sousa, Ana Berta; Unal, Ekrem; Patiroglu, Turkan; Wahn, Volker; von Bernuth, Horst; Whiteford, Margo; Doffinger, Rainer; Jouhadi, Zineb; Grimbacher, Bodo

All together to Fight COVID-19

携手抗击新冠肺炎

Momtazmanesh, Sara; Ochs, Hans D; Uddin, Lucina Q; Perc, Matjaz; Routes, John M; Vieira, Duarte Nuno; Al-Herz, Waleed; Baris, Safa; Prando, Carolina; Rosivall, Laszlo; Abdul Latiff, Amir Hamzah; Ulrichs, Timo; Roudenok, Vasili; Aldave Becerra, Juan Carlos; Salunke, Deepak B; Goudouris, Ekaterini; Condino-Neto, Antonio; Stashchak, Anzhela; Kryvenko, Oleksandr; Stashchak, Mykola; Bondarenko, Anastasia; Rezaei, Nima

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

儿童噬血细胞性淋巴组织细胞增生症的遗传和机制多样性

Chinn, Ivan K; Eckstein, Olive S; Peckham-Gregory, Erin C; Goldberg, Baruch R; Forbes, Lisa R; Nicholas, Sarah K; Mace, Emily M; Vogel, Tiphanie P; Abhyankar, Harshal A; Diaz, Maria I; Heslop, Helen E; Krance, Robert A; Martinez, Caridad A; Nguyen, Trung C; Bashir, Dalia A; Goldman, Jordana R; Stray-Pedersen, Asbjørg; Pedroza, Luis A; Poli, M Cecilia; Aldave-Becerra, Juan C; McGhee, Sean A; Al-Herz, Waleed; Chamdin, Aghiad; Coban-Akdemir, Zeynep H; Jhangiani, Shalini N; Muzny, Donna M; Cao, Tram N; Hong, Diana N; Gibbs, Richard A; Lupski, James R; Orange, Jordan S; McClain, Kenneth L; Allen, Carl E

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

原发性免疫缺陷病:基因组学方法揭示异质性孟德尔遗传病

Stray-Pedersen, Asbjørg; Sorte, Hanne Sørmo; Samarakoon, Pubudu; Gambin, Tomasz; Chinn, Ivan K; Coban Akdemir, Zeynep H; Erichsen, Hans Christian; Forbes, Lisa R; Gu, Shen; Yuan, Bo; Jhangiani, Shalini N; Muzny, Donna M; Rødningen, Olaug Kristin; Sheng, Ying; Nicholas, Sarah K; Noroski, Lenora M; Seeborg, Filiz O; Davis, Carla M; Canter, Debra L; Mace, Emily M; Vece, Timothy J; Allen, Carl E; Abhyankar, Harshal A; Boone, Philip M; Beck, Christine R; Wiszniewski, Wojciech; Fevang, Børre; Aukrust, Pål; Tjønnfjord, Geir E; Gedde-Dahl, Tobias; Hjorth-Hansen, Henrik; Dybedal, Ingunn; Nordøy, Ingvild; Jørgensen, Silje F; Abrahamsen, Tore G; Øverland, Torstein; Bechensteen, Anne Grete; Skogen, Vegard; Osnes, Liv T N; Kulseth, Mari Ann; Prescott, Trine E; Rustad, Cecilie F; Heimdal, Ketil R; Belmont, John W; Rider, Nicholas L; Chinen, Javier; Cao, Tram N; Smith, Eric A; Caldirola, Maria Soledad; Bezrodnik, Liliana; Lugo Reyes, Saul Oswaldo; Espinosa Rosales, Francisco J; Guerrero-Cursaru, Nina Denisse; Pedroza, Luis Alberto; Poli, Cecilia M; Franco, Jose L; Trujillo Vargas, Claudia M; Aldave Becerra, Juan Carlos; Wright, Nicola; Issekutz, Thomas B; Issekutz, Andrew C; Abbott, Jordan; Caldwell, Jason W; Bayer, Diana K; Chan, Alice Y; Aiuti, Alessandro; Cancrini, Caterina; Holmberg, Eva; West, Christina; Burstedt, Magnus; Karaca, Ender; Yesil, Gözde; Artac, Hasibe; Bayram, Yavuz; Atik, Mehmed Musa; Eldomery, Mohammad K; Ehlayel, Mohammad S; Jolles, Stephen; Flatø, Berit; Bertuch, Alison A; Hanson, I Celine; Zhang, Victor W; Wong, Lee-Jun; Hu, Jianhong; Walkiewicz, Magdalena; Yang, Yaping; Eng, Christine M; Boerwinkle, Eric; Gibbs, Richard A; Shearer, William T; Lyle, Robert; Orange, Jordan S; Lupski, James R

Panchalingam S et al (Clin Infect Dis 2012; 55(Suppl 4):S294–302)

Panchalingam S 等(Clin Infect Dis 2012; 55(增刊 4):S294–302)

Toubiana, Julie; Okada, Satoshi; Hiller, Julia; Oleastro, Matias; Lagos Gomez, Macarena; Aldave Becerra, Juan Carlos; Ouachée-Chardin, Marie; Fouyssac, Fanny; Girisha, Katta Mohan; Etzioni, Amos; Van Montfrans, Joris; Camcioglu, Yildiz; Kerns, Leigh Ann; Belohradsky, Bernd; Blanche, Stéphane; Bousfiha, Aziz; Rodriguez-Gallego, Carlos; Meyts, Isabelle; Kisand, Kai; Reichenbach, Janine; Renner, Ellen D; Rosenzweig, Sergio; Grimbacher, Bodo; van de Veerdonk, Frank L; Traidl-Hoffmann, Claudia; Picard, Capucine; Marodi, Laszlo; Morio, Tomohiro; Kobayashi, Masao; Lilic, Desa; Milner, Joshua D; Holland, Steven; Casanova, Jean-Laurent; Puel, Anne