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

Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency

对导致ARPC1B缺陷的创始突变进行分子分析和免疫学表征

Dobrose, Megan M; Kars, Meltem Ece; Perez-Caraballo, Jareb J; Roark, Colleen M; Mariskanish, Christine; Zavaleta-Martinez, Oscar; Gomez-Hernandez, Noemi; Lugo-Reyes, Saul Oswaldo; Itan, Yuval; Blancas-Galicia, Lizbeth; Martínez-Barricarte, Rubén

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

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency

IRF4基因的多态性突变导致人类常染色体显性联合免疫缺陷病

IRF4 International Consortium , Alicia Jia, Hye Sun Kuehn, Qing Min, Ulrich Pannicke, Nikolai Schleussner, Romane Thouenon, Zhijia Yu, María de Los Angeles Astbury, Catherine M Biggs, Miguel Galicchio, Jorge Alberto Garcia-Campos, Silvina Gismondi, Guadalupe Gonzalez Villarreal, Kyla J Hildebrand, Manfred Hönig, Jia Hou, Despina Moshous, Stefania Pittaluga, Xiaowen Qian, Jacob Rozmus, Ansgar S Schulz, Aidé Tamara Staines-Boone, Bijun Sun, Jinqiao Sun, Schauer Uwe, Edna Venegas-Montoya, Wenjie Wang, Xiaochuan Wang, Wenjing Ying, Xiaowen Zhai, Qinhua Zhou, Altuna Akalin, Isabelle André, Thomas F E Barth, Bernd Baumann, Anne Brüstle, Gaetan Burgio, Jacinta C Bustamante, Jean-Laurent Casanova, Marco G Casarotto, Marina Cavazzana, Loïc Chentout, Ian A Cockburn, Mariantonia Costanza, Chaoqun Cui, Oliver Daumke, Kate L Del Bel, Hermann Eibel, Xiaoqian Feng, Vedran Franke, J Christof M Gebhardt, Andrea Götz, Stephan Grunwald, Bénédicte Hoareau, Timothy R Hughes, Eva-Maria Jacobsen, Martin Janz, Arttu Jolma, Chantal Lagresle-Peyrou, Nannan Lai, Yaxuan Li, Susan Lin, Henry Y Lu, Saul O Lugo-Reyes, Xin Meng, Peter Möller, Nidia Moreno-Corona, Julie E Niemela, Gherman Novakovsky, Jareb J Perez-Caraballo, Capucine Picard, Lucie Poggi, Maria-Emilia Puig-Lombardi, Katrina L Randall, Anja Reisser, Yohann Schmitt, Sandali Seneviratne, Mehul Sharma, Jennifer Stoddard, Srinivasan Sundararaj, Harry Sutton, Linh Q Tran, Ying Wang, Wyeth W Wasserman, Zichao Wen, Wiebke Winkler, Ermeng Xiong, Ally W H Yang, Meiping Yu, Lumin Zhang, Hai Zhang, Qian Zhao, Xin Zhen, Anselm Enders, Sven Kracker, Ruben Martinez-Barricarte, Stephan Mathas, Sergio D Rosenzweig, Klaus Schwarz, Stuart E Turvey, Ji-Yang Wang

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

单基因早发性淋巴增殖和自身免疫:STAT3功能获得综合征的自然史

Leiding, Jennifer W; Vogel, Tiphanie P; Santarlas, Valentine G J; Mhaskar, Rahul; Smith, Madison R; Carisey, Alexandre; Vargas-Hernández, Alexander; Silva-Carmona, Manuel; Heeg, Maximilian; Rensing-Ehl, Anne; Neven, Bénédicte; Hadjadj, Jérôme; Hambleton, Sophie; Ronan Leahy, Timothy; Meesilpavikai, Kornvalee; Cunningham-Rundles, Charlotte; Dutmer, Cullen M; Sharapova, Svetlana O; Taskinen, Mervi; Chua, Ignatius; Hague, Rosie; Klemann, Christian; Kostyuchenko, Larysa; Morio, Tomohiro; Thatayatikom, Akaluck; Ozen, Ahmet; Scherbina, Anna; Bauer, Cindy S; Flanagan, Sarah E; Gambineri, Eleonora; Giovannini-Chami, Lisa; Heimall, Jennifer; Sullivan, Kathleen E; Allenspach, Eric; Romberg, Neil; Deane, Sean G; Prince, Benjamin T; Rose, Melissa J; Bohnsack, John; Mousallem, Talal; Jesudas, Rohith; Santos Vilela, Maria Marluce Dos; O'Sullivan, Michael; Pachlopnik Schmid, Jana; Průhová, Štěpánka; Klocperk, Adam; Rees, Matthew; Su, Helen; Bahna, Sami; Baris, Safa; Bartnikas, Lisa M; Chang Berger, Amy; Briggs, Tracy A; Brothers, Shannon; Bundy, Vanessa; Chan, Alice Y; Chandrakasan, Shanmuganathan; Christiansen, Mette; Cole, Theresa; Cook, Matthew C; Desai, Mukesh M; Fischer, Ute; Fulcher, David A; Gallo, Silvanna; Gauthier, Amelie; Gennery, Andrew R; Gonçalo Marques, José; Gottrand, Frédéric; Grimbacher, Bodo; Grunebaum, Eyal; Haapaniemi, Emma; Hämäläinen, Sari; Heiskanen, Kaarina; Heiskanen-Kosma, Tarja; Hoffman, Hal M; Gonzalez-Granado, Luis Ignacio; Guerrerio, Anthony L; Kainulainen, Leena; Kumar, Ashish; Lawrence, Monica G; Levin, Carina; Martelius, Timi; Neth, Olaf; Olbrich, Peter; Palma, Alejandro; Patel, Niraj C; Pozos, Tamara; Preece, Kahn; Lugo Reyes, Saúl Oswaldo; Russell, Mark A; Schejter, Yael; Seroogy, Christine; Sinclair, Jan; Skevofilax, Effie; Suan, Daniel; Suez, Daniel; Szabolcs, Paul; Velasco, Helena; Warnatz, Klaus; Walkovich, Kelly; Worth, Austen; Seppänen, Mikko R J; Torgerson, Troy R; Sogkas, Georgios; Ehl, Stephan; Tangye, Stuart G; Cooper, Megan A; Milner, Joshua D; Forbes Satter, Lisa R

Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature

您的孩子行为异常吗?六例遗传性肌动蛋白相关蛋白2/3复合物亚基1B缺乏症患者的病例系列研究及文献综述

Vásquez-Echeverri, Estefanía; Yamazaki-Nakashimada, Marco Antonio; Venegas Montoya, Edna; Scheffler Mendoza, Selma Cecilia; Castano-Jaramillo, Lina Maria; Medina-Torres, Edgar Alejandro; González-Serrano, Maria Edith; Espinosa-Navarro, Melissa; Bustamante Ogando, Juan Carlos; González-Villarreal, María Guadalupe; Ortega Cisneros, Margarita; Valencia Mayoral, Pedro Francisco; Consuelo Sanchez, Alejandra; Varela-Fascinetto, Gustavo; Ramírez-Uribe, Rosa María Nideshda; Salazar Gálvez, Yuridia; Bonifaz Alonzo, Laura Cecilia; Fuentes-Pananá, Ezequiel Moisés; Gómez Hernández, Noemí; Rojas Maruri, César Mauricio; Casanova, Jean-Laurent; Espinosa-Padilla, Sara Elva; Staines Boone, Aidé Tamara; López-Velázquez, Gabriel; Boisson, Bertrand; Lugo Reyes, Saul Oswaldo

Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico

孟德尔遗传易感性导致分枝杆菌病:墨西哥回顾性临床和遗传学研究

Peñafiel Vicuña, Ana Karen; Yamazaki Nakashimada, Marco; León Lara, Ximena; Mendieta Flores, Elizabeth; Nuñez Núñez, María Enriqueta; Lona-Reyes, Juan Carlos; Hernández Nieto, Leticia; Ramírez Vázquez, María Guadalupe; Barroso Santos, Joel; López Iñiguez, Álvaro; González, Yolanda; Torres, Martha; Lezana Fernández, José Luis; Román Montes, Carla M; Medina-Torres, Edgar Alejandro; González Serrano, Edith; Bustamante Ogando, Juan Carlos; Lugo Reyes, Saúl; Zavaleta Martínez, Oscar; Staines Boone, Aidé Tamara; Venegas Montoya, Edna; Aguilar Gómez, Nancy Evelyn; Soudeé, Camille; Jouanguy, Emmanuelle; Puel, Anne; Boisson-Dupuis, Stéphanie; Pedraza Sánchez, Sigifredo; Casanova, Jean-Laurent; Espinosa Rosales, Francisco; Espinosa Padilla, Sara; Bustamante, Jacinta; Blancas Galicia, Lizbeth

COVID-19 in the Context of Inborn Errors of Immunity: a Case Series of 31 Patients from Mexico

先天性免疫缺陷背景下的 COVID-19:来自墨西哥的 31 例病例系列研究

Castano-Jaramillo, Lina M; Yamazaki-Nakashimada, Marco Antonio; O'Farrill-Romanillos, Patricia M; Muzquiz Zermeño, David; Scheffler Mendoza, Selma C; Venegas Montoya, Edna; García Campos, Jorge Alberto; Sánchez-Sánchez, Luz María; Gámez González, Luisa B; Ramírez López, Jesús Moisés; Bustamante Ogando, Juan Carlos; Vásquez-Echeverri, Estefanía; Medina Torres, Edgar Alejandro; Lopez-Herrera, Gabriela; Blancas Galicia, Lizbeth; Berrón Ruiz, Laura; Staines-Boone, Aidé Tamara; Espinosa-Padilla, Sara Elva; Segura Mendez, Nora Hilda; Lugo Reyes, Saul O

Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations

RAG1/2 突变患者的临床表现、突变分析和免疫表型:来自墨西哥的首批病例系列及两种新突变的描述

Lugo-Reyes, Saul Oswaldo; Pastor, Nina; González-Serrano, Edith; Yamazaki-Nakashimada, Marco Antonio; Scheffler-Mendoza, Selma; Berron-Ruiz, Laura; Wakida, Guillermo; Nuñez-Nuñez, Maria Enriqueta; Macias-Robles, Ana Paola; Staines-Boone, Aide Tamara; Venegas-Montoya, Edna; Alaez-Verson, Carmen; Molina-Garay, Carolina; Flores-Lagunes, Luis Leonardo; Carrillo-Sanchez, Karol; Niemela, Julie; Rosenzweig, Sergio D; Gaytan, Paul; Yañez, Jorge A; Martinez-Duncker, Ivan; Notarangelo, Luigi D; Espinosa-Padilla, Sara; Cruz-Munoz, Mario Ernesto

A male infant with COVID-19 in the context of ARPC1B deficiency

患有 COVID-19 的男婴,伴有 ARPC1B 缺陷

Castano-Jaramillo, Lina Maria; Yamazaki-Nakashimada, Marco Antonio; Scheffler Mendoza, Selma Cecilia; Bustamante-Ogando, Juan Carlos; Espinosa-Padilla, Sara Elva; Lugo Reyes, Saul O

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature

入不敷出:DNA连接酶IV缺乏症的广泛临床表现。病例系列及文献综述

Staines Boone, Aidé Tamara; Chinn, Ivan K; Alaez-Versón, Carmen; Yamazaki-Nakashimada, Marco A; Carrillo-Sánchez, Karol; García-Cruz, María de la Luz Hortensia; Poli, M Cecilia; González Serrano, M Edith; Medina Torres, Edgar A; Muzquiz Zermeño, David; Forbes, Lisa R; Espinosa-Rosales, Francisco J; Espinosa-Padilla, Sara E; Orange, Jordan S; Lugo Reyes, Saul Oswaldo