BAFF receptor polymorphisms and deficiency in humans

Clancy, 2005, Preligand assembly domain-mediated ligand-independent association between TRAIL receptor 4 (TR4) and TR2 regulates TRAIL-induced apoptosis, Proc Natl Acad Sci U S A, 102, 18099, 10.1073/pnas.0507329102 Naismith, 1998, Modularity in the TNF-receptor family, Trends Biochem Sci, 23, 74, 10.1016/S0968-0004(97)01164-X Fu, 2016, Structural basis and functional role of intramembrane trimerization of the Fas/CD95 death receptor, Mol Cell, 61, 602, 10.1016/j.molcel.2016.01.009 Nadezhdin, 2016, Structural basis of p75 transmembrane domain dimerization, J Biol Chem, 291, 12346, 10.1074/jbc.M116.723585 Pan, 2019, Higher-order clustering of the transmembrane anchor of DR5 drives signaling, Cell, 176, 1477, 10.1016/j.cell.2019.02.001 Mackay, 2007, B cells and the BAFF/APRIL axis: fast-forward on autoimmunity and signaling, Curr Opin Immunol, 19, 327, 10.1016/j.coi.2007.04.008 Vincent, 2013, The BAFF/APRIL system: emerging functions beyond B cell biology and autoimmunity, Cytokine Growth Factor Rev, 24, 203, 10.1016/j.cytogfr.2013.04.003 Bossen, 2006, BAFF, APRIL and their receptors: structure, function and signaling, Semin Immunol, 18, 263, 10.1016/j.smim.2006.04.006 Ng, 2004, B cell-activating factor belonging to the TNF family (BAFF)-R is the principal BAFF receptor facilitating BAFF costimulation of circulating T and B cells, J Immunol, 173, 807, 10.4049/jimmunol.173.2.807 Almaden, 2016, B-cell survival and development controlled by the coordination of NF-kappaB family members RelB and cRel, Blood, 127, 1276, 10.1182/blood-2014-10-606988 Moon, 2006, Reactive oxygen species augment B-cell-activating factor expression, Free Radic Biol Med, 40, 2103, 10.1016/j.freeradbiomed.2006.02.007 Litinskiy, 2002, DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL, Nat Immunol, 3, 822, 10.1038/ni829 Sakai, 2017, The role of BAFF system molecules in host response to pathogens, Clin Microbiol Rev, 30, 991, 10.1128/CMR.00046-17 Vigolo, 2018, A loop region of BAFF controls B cell survival and regulates recognition by different inhibitors, Nat Commun, 9, 10.1038/s41467-018-03323-8 Cachero, 2006, Formation of virus-like clusters is an intrinsic property of the tumor necrosis factor family member BAFF (B cell activating factor), Biochemistry, 45, 2006, 10.1021/bi051685o Eslami, 2020, BAFF 60-mer, and differential BAFF 60-mer dissociating activities in human serum, cord blood and cerebrospinal fluid, Front Cell Dev Biol, 8, 10.3389/fcell.2020.577662 Hoffmann, 2015, The immunoregulator soluble TACI is released by ADAM10 and reflects B cell activation in autoimmunity, J Immunol, 194, 542, 10.4049/jimmunol.1402070 Smulski, 2017, BAFF- and TACI-dependent processing of BAFFR by ADAM proteases regulates the survival of B cells, Cell Rep, 18, 2189, 10.1016/j.celrep.2017.02.005 Laurent, 2015, Gamma-secretase directly sheds the survival receptor BCMA from plasma cells, Nat Commun, 6, 10.1038/ncomms8333 Goenka, 2014, Local BLyS production by T follicular cells mediates retention of high affinity B cells during affinity maturation, J Exp Med, 211, 45, 10.1084/jem.20130505 Mackay, 1999, Mice transgenic for BAFF develop lymphocytic disorders along with autoimmune manifestations, J Exp Med, 190, 1697, 10.1084/jem.190.11.1697 Steri, 2017, Overexpression of the cytokine BAFF and autoimmunity risk, N Engl J Med, 376, 1615, 10.1056/NEJMoa1610528 Shulga-Morskaya, 2004, B cell-activating factor belonging to the TNF family acts through separate receptors to support B cell survival and T cell-independent antibody formation, J Immunol, 173, 2331, 10.4049/jimmunol.173.4.2331 Lentz, 1996, Bcmd governs recruitment of new B cells into the stable peripheral B cell pool in the A/WySnJ mouse, J Immunol, 157, 598, 10.4049/jimmunol.157.2.598 Lentz, 1998, Bcmd decreases the life span of B-2 but not B-1 cells in A/WySnJ mice, J Immunol, 160, 3743, 10.4049/jimmunol.160.8.3743 Sasaki, 2004, TNF family member B cell-activating factor (BAFF) receptor-dependent and -independent roles for BAFF in B cell physiology, J Immunol, 173, 2245, 10.4049/jimmunol.173.4.2245 Schiemann, 2001, An essential role for BAFF in the normal development of B cells through a BCMA-independent pathway, Science, 293, 2111, 10.1126/science.1061964 Warnatz, 2009, B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans, Proc Natl Acad Sci U S A, 106, 13945, 10.1073/pnas.0903543106 Zouali, 2011, Marginal zone B-cells, a gatekeeper of innate immunity, Front Immunol, 2, 63, 10.3389/fimmu.2011.00063 Kruetzmann, 2003, Human immunoglobulin M memory B cells controlling Streptococcus pneumoniae infections are generated in the spleen, J Exp Med, 197, 939, 10.1084/jem.20022020 Benson, 2008, Cutting edge: the dependence of plasma cells and independence of memory B cells on BAFF and APRIL, J Immunol, 180, 3655, 10.4049/jimmunol.180.6.3655 Rahman, 2003, Normal induction but attenuated progression of germinal center responses in BAFF and BAFF-R signaling-deficient mice, J Exp Med, 198, 1157, 10.1084/jem.20030495 Stohl, 2014, Therapeutic targeting of the BAFF/APRIL axis in systemic lupus erythematosus, Expert Opin Ther Targets, 18, 473, 10.1517/14728222.2014.888415 Stohl, 2012, Belimumab reduces autoantibodies, normalizes low complement levels, and reduces select B cell populations in patients with systemic lupus erythematosus, Arthritis Rheum, 64, 2328, 10.1002/art.34400 Jacobi, 2010, Effect of long-term belimumab treatment on B cells in systemic lupus erythematosus: extension of a phase II, double-blind, placebo-controlled, dose-ranging study, Arthritis Rheum, 62, 201, 10.1002/art.27189 Ramskold, 2019, B cell alterations during BAFF inhibition with belimumab in SLE, EBioMedicine, 40, 517, 10.1016/j.ebiom.2018.12.035 Regola, 2019, Association between changes in BLyS levels and the composition of B and T cell compartments in patients with refractory systemic lupus erythematosus treated with belimumab, Front Pharmacol, 10, 433, 10.3389/fphar.2019.00433 Chatham, 2012, Effect of belimumab on vaccine antigen antibodies to influenza, pneumococcal, and tetanus vaccines in patients with systemic lupus erythematosus in the BLISS-76 trial, J Rheumatol, 39, 1632, 10.3899/jrheum.111587 Nagel, 2017, Treatment with belimumab in systemic lupus erythematosus does not impair antibody response to 13-valent pneumococcal conjugate vaccine, Lupus, 26, 1072, 10.1177/0961203317695465 Wallace, 2019, Safety and efficacy of belimumab plus standard therapy for up to thirteen years in patients with systemic lupus erythematosus, Arthritis Rheumatol, 71, 1125, 10.1002/art.40861 Iaccarino, 2018, Clinical predictors of response and discontinuation of belimumab in patients with systemic lupus erythematosus in real life setting. Results of a large, multicentric, nationwide study, J Autoimmun, 86, 1, 10.1016/j.jaut.2017.09.004 Iaccarino, 2017, Effects of belimumab on flare rate and expected damage progression in patients with active systemic lupus erythematosus, Arthritis Care Res (Hoboken), 69, 115, 10.1002/acr.22971 Blair, 2018, Belimumab: a review in systemic lupus erythematosus, Drugs, 78, 355, 10.1007/s40265-018-0872-z Merrill, 2012, Long-term safety profile of belimumab plus standard therapy in patients with systemic lupus erythematosus, Arthritis Rheum, 64, 3364, 10.1002/art.34564 Ginzler, 2014, Disease control and safety of belimumab plus standard therapy over 7 years in patients with systemic lupus erythematosus, J Rheumatol, 41, 300, 10.3899/jrheum.121368 Borhis, 2020, Impact of BAFF blockade on inflammation, germinal center reaction and effector B-cells during acute SIV infection, Front Immunol, 11, 252, 10.3389/fimmu.2020.00252 Yeh, 2020, APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans, J Allergy Clin Immunol, 146, 1109, 10.1016/j.jaci.2020.03.025 Baker, 2020, Failed B cell survival factor trials support the importance of memory B cells in multiple sclerosis, Eur J Neurol, 27, 221, 10.1111/ene.14105 Hartung, 2010, Atacicept: targeting B cells in multiple sclerosis, Ther Adv Neurol Disord, 3, 205, 10.1177/1756285610371146 Muller-Winkler, 2021, Critical requirement for BCR, BAFF, and BAFFR in memory B cell survival, J Exp Med, 218, 10.1084/jem.20191393 Lau, 2021, BAFFR controls early memory B cell responses but is dispensable for germinal center function, J Exp Med, 218, 10.1084/jem.20191167 Karczewski, 2020, The mutational constraint spectrum quantified from variation in 141,456 humans, Nature, 581, 434, 10.1038/s41586-020-2308-7 Pieper, 2014, A common single nucleotide polymorphism impairs B-cell activating factor receptor’s multimerization, contributing to common variable immunodeficiency, J Allergy Clin Immunol, 133, 1222, 10.1016/j.jaci.2013.11.021 Hildebrand, 2010, A BAFF-R mutation associated with non-Hodgkin lymphoma alters TRAF recruitment and reveals new insights into BAFF-R signaling, J Exp Med, 207, 2569, 10.1084/jem.20100857 Losi, 2005, Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency, J Clin Immunol, 25, 496, 10.1007/s10875-005-5637-2 Kutukculer, 2012, Three different classifications, B lymphocyte subpopulations, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) gene mutations, CTLA-4 and ICOS gene polymorphisms in Turkish patients with common variable immunodeficiency, J Clin Immunol, 32, 1165, 10.1007/s10875-012-9717-9 Ntellas, 2020, TNFRSF13C/BAFFR P21R and H159Y polymorphisms in multiple sclerosis, Mult Scler Relat Disord, 37, 10.1016/j.msard.2019.101422 Kompoti, 2015, Genetic polymorphisms of innate and adaptive immunity as predictors of outcome in critically ill patients, Immunobiology, 220, 414, 10.1016/j.imbio.2014.10.006 Lougaris, 2014, BAFF-R mutations in good’s syndrome, Clin Immunol, 153, 91, 10.1016/j.clim.2014.04.002 Secreto, 2014, B-cell activating factor-receptor specific activation of tumor necrosis factor receptor associated factor 6 and the phosphatidyl inositol 3-kinase pathway in lymphoma B cells, Leuk Lymphoma, 55, 1884, 10.3109/10428194.2013.862619