Выходит 6 номеров в год
ISSN Печать: 1040-8401
ISSN Онлайн: 2162-6472
IF:
1.3
5-Year IF:
2.6
Eigenfactor:
0.00079
JCI:
0.24
SJR:
0.429
SNIP:
0.287
CiteScore™::
2.7
H-Index:
81
Indexed in
B-cell Defects in Common Variable Immunodeficiency: BCR signaling, Protein Clustering and Hardwired Gene Mutations
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Краткое описание
Common variable immunodeficiency (CVID) is the most frequently diagnosed symptomatic primary immunodeficiency. CVID develops as a consequence of absence or malfunction of proteins involved with immunoglobulin production by plasma and memory B-cells. The last decade has brought us clarification of several genetic predispositions to the development of CVID. Despite considerable effort, however, for eighty-five percent of CVID patients, disease etiology remains undefined. We propose that in subsets of patients, CVID may involve defective assembly of protein complexes, which is crucial for example for B cell activation upon antigen triggering of the B cell receptor/co-receptor complex. Such defective protein-protein interactions may not be uncovered by standard gene sequencing methods, and may involve epigenetic or post-transcriptional regulation. In this review, we summarize recent developments in CVID research and propose additional approaches to the clarification of etiology of CVID patient groups, necessary for development of tailored treatment options.
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Schena Francesca, Volpi Stefano, Faliti Caterina Elisa, Penco Federica, Santi Spartaco, Proietti Michele, Schenk Ursula, Damonte Gianluca, Salis Annalisa, Bellotti Marta, Fais Franco, Tenca Claudya, Gattorno Marco, Eibel Hermann, Rizzi Marta, Warnatz Klaus, Idzko Marco, Ayata Cemil Korcan, Rakhmanov Mirzokhid, Galli Thierry, Martini Alberto, Canossa Marco, Grassi Fabio, Traggiai Elisabetta, Dependence of Immunoglobulin Class Switch Recombination in B Cells on Vesicular Release of ATP and CD73 Ectonucleotidase Activity, Cell Reports, 3, 6, 2013. Crossref
-
Kapitel E1 Literaturverzeichnis zu Peter, Pichler, Müller-Ladner (Hrsg.): Klinische Immunologie, in Klinische Immunologie, 2012. Crossref
-
Hausmann Oliver, Warnatz Klaus, Immundefizienz im Erwachsenenalter — ein Leitfaden für die allergologische Praxis, Allergo Journal, 23, 7, 2014. Crossref
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Flinsenberg Thijs W.H., Janssen Willemijn J., Herczenik Eszter, Boross Peter, Nederend Maaike, Jongeneel Lieneke H., Scholman Rianne C., Boelens Jaap-Jan, Maas Coen, van Gijn Marielle E., van Montfrans Joris M., Leusen Jeanette H., Boes Marianne, A novel FcγRIIa Q27W gene variant is associated with common variable immune deficiency through defective FcγRIIa downstream signaling, Clinical Immunology, 155, 1, 2014. Crossref
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Visentini Marcella, Marrapodi Ramona, Conti Valentina, Mitrevski Milica, Camponeschi Alessandro, Lazzeri Cristina, Carbonari Maurizio, Catizone Angela, Quinti Isabella, Fiorilli Massimo, Dysregulated extracellular signal-regulated kinase signaling associated with impaired B-cell receptor endocytosis in patients with common variable immunodeficiency, Journal of Allergy and Clinical Immunology, 134, 2, 2014. Crossref
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Frieri Marianne, Good’s Syndrome, CVID, and Selective Antibody Deficiency in Patients with Chronic Rhinosinusitis, Current Allergy and Asthma Reports, 14, 6, 2014. Crossref
-
Hausmann Oliver, Warnatz Klaus, Immunodeficiency in adults a practical guide for the allergist, Allergo Journal International, 23, 7, 2014. Crossref
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Lougaris Vassilios, Baronio Manuela, Masneri Stefania, Lorenzini Tiziana, Cattivelli Kim, Tampella Giacomo, Soresina Annarosa, Moratto Daniele, Plebani Alessandro, Correlation of bone marrow abnormalities, peripheral lymphocyte subsets and clinical features in uncomplicated common variable immunodeficiency (CVID) patients, Clinical Immunology, 163, 2016. Crossref
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Rodríguez-Cortez Virginia C., del Pino-Molina Lucia, Rodríguez-Ubreva Javier, Ciudad Laura, Gómez-Cabrero David, Company Carlos, Urquiza José M., Tegnér Jesper, Rodríguez-Gallego Carlos, López-Granados Eduardo, Ballestar Esteban, Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naïve-to-memory B-cell transition, Nature Communications, 6, 1, 2015. Crossref
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Nayan Smriti, Alizadehfar Reza, Desrosiers Martin, Humoral Primary Immunodeficiencies in Chronic Rhinosinusitis, Current Allergy and Asthma Reports, 15, 8, 2015. Crossref
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Cunningham-Rundles Charlotte, Maglione Paul J., Common variable immunodeficiency, Journal of Allergy and Clinical Immunology, 129, 5, 2012. Crossref
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Taraldsrud Eli, Aukrust Pål, Jørgensen Silje, Lingjærde Ole Christian, Olweus Johanna, Myklebust June H., Fevang Børre, Patterns of constitutively phosphorylated kinases in B cells are associated with disease severity in common variable immunodeficiency, Clinical Immunology, 175, 2017. Crossref
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Rae William, Indications to Epigenetic Dysfunction in the Pathogenesis of Common Variable Immunodeficiency, Archivum Immunologiae et Therapiae Experimentalis, 65, 2, 2017. Crossref
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Li Jin, Wei Zhi, Li Yun R., Maggadottir S. Melkorka, Chang Xiao, Desai Akshatha, Hakonarson Hakon, Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches, Biochimica et Biophysica Acta (BBA) - General Subjects, 1860, 11, 2016. Crossref
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Song Junmin, Lleo Ana, Yang Guo Xiang, Zhang Weici, Bowlus Christopher L., Gershwin M. Eric, Leung Patrick S. C., Common Variable Immunodeficiency and Liver Involvement, Clinical Reviews in Allergy & Immunology, 55, 3, 2018. Crossref
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Salzer Ulrich, CVID, in Humoral Primary Immunodeficiencies, 2019. Crossref
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Klimek L., Chaker A., Matthias C., Sperl A., Gevaert P., Hellings P., Wollenberg B., Koennecke M., Hagemann J., Eckrich J., Becker S., Immundefekte bei chronischer Rhinosinusitis, HNO, 67, 9, 2019. Crossref
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Silva Susana L., Fonseca Mariana, Pereira Marcelo L. M., Silva Sara P., Barbosa Rita R., Serra-Caetano Ana, Blanco Elena, Rosmaninho Pedro, Pérez-Andrés Martin, Sousa Ana Berta, Raposo Alexandre A. S. F., Gama-Carvalho Margarida, Victorino Rui M. M., Hammarstrom Lennart, Sousa Ana E., Monozygotic Twins Concordant for Common Variable Immunodeficiency: Strikingly Similar Clinical and Immune Profile Associated With a Polygenic Burden, Frontiers in Immunology, 10, 2019. Crossref
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Blundell Michael P, Kinnon Christine, Animal Models of Human Primary Immunodeficiency Diseases, in eLS, 2012. Crossref
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Zhou Mingqian, Dascani Paul, Ding Chuanlin, Kos Justin T., Tieri David, Lin Xiaoying, Caster Dawn, Powell David, Wen Chengping, Watson Corey T., Yan Jun, Integrin CD11b Negatively Regulates B Cell Receptor Signaling to Shape Humoral Response during Immunization and Autoimmunity, The Journal of Immunology, 207, 7, 2021. Crossref
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Albin Stephanie, Cunningham-Rundles Charlotte, An update on the use of immunoglobulin for the treatment of immunodeficiency disorders, Immunotherapy, 6, 10, 2014. Crossref
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Zhang Ya, Zhou Jinxin, Liu Jiajia, Li Shujun, Zhou Shaoyu, Zhang Chengchen, Wang Yan, Shi Jingshan, Liu Jie, Wu Qin, RNA-Seq analysis of the protection by Dendrobium nobile alkaloids against carbon tetrachloride hepatotoxicity in mice, Biomedicine & Pharmacotherapy, 137, 2021. Crossref