BAFF receptor polymorphisms and deficiency in humans
Date
2021Language
en
Keyword
Abstract
The BAFF-receptor (BAFFR) is a member of the TNF-receptor family. It is expressed only by B cells and binds BAFF as single ligand, which activates key signaling pathways regulating essential cellular functions, including survival, protein synthesis, and metabolic fitness. In humans, BAFFR deficiency interrupts B cell development at the transition from immature to mature B cells and causes B lymphopenia, hypogammaglobulinemia, and impaired humoral immune responses. Polymorphisms in TNFRSF13C gene affecting BAFFR oligomerization and signaling have been described in patients with immunodeficiency, autoimmunity and B cell lymphomas. Despite a uniform expression pattern of BAFFR in peripheral mature B cells, depletion of BAFF with neutralizing antibodies in patients with systemic lupus erythematosus does not affect the survival of switched memory B cells. These findings imply a distinct dependency of mature B cell subsets on BAFF/BAFFR interaction and highlight the contribution of BAFFR-derived signals in peripheral B cell development and homeostasis. © 2021 Elsevier Ltd
Collections
Related items
Showing items related by title, author, creator and subject.
-
Risk factor genes in patients with dystonia: A comprehensive review
Siokas V., Aloizou A.-M., Tsouris Z., Michalopoulou A., Mentis A.-F.A., Dardiotis E. (2019)Background: Dystonia is a movement disorder with high heterogeneity regarding phenotypic appearance and etiology that occurs in both sporadic and familial forms. The etiology of the disease remains unknown. However, there ... -
TNFRSF13C/BAFFR P21R and H159Y polymorphisms in multiple sclerosis
Ntellas P., Dardiotis E., Sevdali E., Siokas V., Aloizou A.-M., Tsinti G., Germenis A.E., Hadjigeorgiou G.M., Eibel H., Speletas M. (2020)Recent studies implicate B cells in multiple sclerosis (MS) pathogenesis, and consequently, several molecules participating in B cell survival and proliferation, including B-cell activating factor (BAFF), have recently ... -
Genetic risk factors for essential tremor: A review
Siokas V., Aloizou A.-M., Tsouris Z., Liampas I., Aslanidou P., Dastamani M., Brotis A.G., Bogdanos D.P., Hadjigeorgiou G.M., Dardiotis E. (2020)Highlights In the current review, we thoroughly reviewed 74 identified articles regarding genes and genetic loci that confer susceptibility to ET. Over 50 genes/genetic loci have been examined for possible association with ...