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

Dysregulation of Toll-Like Receptor Signaling-Associated Gene Expression in X-Linked Agammaglobulinemia: Implications for Correlations Genotype-Phenotype and Disease Expression

X连锁无丙种球蛋白血症中Toll样受体信号通路相关基因表达失调:对基因型-表型相关性和疾病表达的影响

Teocchi, Marcelo; de Andrade Eugênio, Thaís; Furlaneto Marega, Lia; Quinti, Isabella; Dos Santos Vilela, Maria Marluce

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

Clinical manifestation for immunoglobulin A deficiency: a systematic review and meta-analysis

免疫球蛋白A缺乏症的临床表现:系统评价和荟萃分析

Vosughimotlagh, Ahmad; Rasouli, Seyed Erfan; Rafiemanesh, Hosein; Safarirad, Molood; Sharifinejad, Niusha; Madanipour, Atossa; Dos Santos Vilela, Maria Marluce; Heropolitańska-Pliszka, Edyta; Azizi, Gholamreza

The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review

IL10/IL10R缺陷患者的临床、分子和治疗特征:系统评价

Sharifinejad, Niusha; Zaki-Dizaji, Majid; Sepahvandi, Roya; Fayyaz, Farimah; Dos Santos Vilela, Maria Marluce; ElGhazali, Gehad; Abolhassani, Hassan; Ochs, Hans D; Azizi, Gholamreza

Human Inborn Errors of Immunity (HIEI): predominantly antibody deficiencies (PADs): if you suspect it, you can detect it

人类先天性免疫缺陷(HIEI):主要表现为抗体缺乏症(PADs):如果您怀疑患有此病,可以进行检测。

Vilela, Maria Marluce Dos Santos

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

对157名携带56种不同NFKB1杂合突变的个体进行临床和免疫表型特征分析及治疗管理

Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils; Frede, Natalie; Proietti, Michele; Bulashevska, Alla; Camacho-Ordonez, Nadezhda; Varjosalo, Markku; Kinnunen, Matias; de Vries, Esther; van der Meer, Jos W M; Ameratunga, Rohan; Roifman, Chaim M; Schejter, Yael D; Kobbe, Robin; Hautala, Timo; Atschekzei, Faranaz; Schmidt, Reinhold E; Schröder, Claudia; Stepensky, Polina; Shadur, Bella; Pedroza, Luis A; van der Flier, Michiel; Martínez-Gallo, Mónica; Gonzalez-Granado, Luis Ignacio; Allende, Luis M; Shcherbina, Anna; Kuzmenko, Natalia; Zakharova, Victoria; Neves, João Farela; Svec, Peter; Fischer, Ute; Ip, Winnie; Bartsch, Oliver; Barış, Safa; Klein, Christoph; Geha, Raif; Chou, Janet; Alosaimi, Mohammed; Weintraub, Lauren; Boztug, Kaan; Hirschmugl, Tatjana; Dos Santos Vilela, Maria Marluce; Holzinger, Dirk; Seidl, Maximilian; Lougaris, Vassilios; Plebani, Alessandro; Alsina, Laia; Piquer-Gibert, Monica; Deyà-Martínez, Angela; Slade, Charlotte A; Aghamohammadi, Asghar; Abolhassani, Hassan; Hammarström, Lennart; Kuismin, Outi; Helminen, Merja; Allen, Hana Lango; Thaventhiran, James E; Freeman, Alexandra F; Cook, Matthew; Bakhtiar, Shahrzad; Christiansen, Mette; Cunningham-Rundles, Charlotte; Patel, Niraj C; Rae, William; Niehues, Tim; Brauer, Nina; Syrjänen, Jaana; Seppänen, Mikko R J; Burns, Siobhan O; Tuijnenburg, Paul; Kuijpers, Taco W; Warnatz, Klaus; Grimbacher, Bodo

Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein

间歇性低血小板计数阻碍儿童X连锁血小板减少症的诊断:两例互不相关的病例报告及编码Wiskott-Aldrich综合征蛋白基因中的一种新突变

Medina, Samuel Souza; Siqueira, Lúcia Helena; Colella, Marina Pereira; Yamaguti-Hayakawa, Gabriela Goes; Duarte, Bruno Kosa Lino; Dos Santos Vilela, Maria Marluce; Ozelo, Margareth Castro

Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS)

FAS 突变导致的自身免疫性淋巴增生综合征 (ALPS-FAS) 中 miR-146a/FAS 和 miR-21/FASLG 轴的差异调节

Lia Furlaneto Marega, Marcelo Ananias Teocchi, Maria Marluce Dos Santos Vilela

Endocarditis by Kocuria rosea in an immunocompetent child

免疫功能正常的儿童发生玫瑰红球菌性心内膜炎

Moreira, Jorge Salomão; Riccetto, Adriana Gut Lopes; Silva, Marcos Tadeu Nolasco da; Vilela, Maria Marluce dos Santos

BTK mutations selectively regulate BTK expression and upregulate monocyte XBP1 mRNA in XLA patients

BTK 突变选择性地调节 BTK 表达,并上调 XLA 患者的单核细胞 XBP1 mRNA。

Teocchi, Marcelo A; Domingues Ramalho, Vanessa; Abramczuk, Beatriz M; D'Souza-Li, Lília; Santos Vilela, Maria Marluce