Phenotype and cytokine profile in a TRAPS Syndrome family with TNFRSF1A p.(Thr79Met): Association with sacro-iliitis

Lachmann, 2013, The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry, Ann Rheum Dis [Internet] Trost, 2005, Myocarditis and sacroiliitis: 2 Previously unrecognized manifestations of tumor necrosis factor receptor associated periodic syndrome, J Rheumatol, 32, 175 Cantarini, 2010, Sacroileitis and pericarditis: atypical presentation of tumour necrosis factor receptor-associated periodic syndrome and response to etanercept therapy, Clin Exp Rheumatol, 28, 290 Amigues, 2011, Ankylosing spondylitis associated with auto-inflammatory syndrome mutation, Joint Bone Spine [Internet], 78, 528 Cantarini, 2012, Tumour necrosis factor receptor-associated periodic syndrome (TRAPS): state of the art and future perspectives, Autoimmun Rev [Internet], 12, 38, 10.1016/j.autrev.2012.07.020 Van Tubergen, 2014, The changing clinical picture and epidemiology of spondyloarthritis, Nat Rev Rheumatol [Internet], 11, 110, 10.1038/nrrheum.2014.181 Levan-Petit, 1999, T(h)2 cytokine dependence of IgD production by normal human B cells, Int Immunol, 11, 1819, 10.1093/intimm/11.11.1819 Touitou, 2004, Infevers: an evolving mutation database for auto-inflammatory syndromes, Hum Mutat, 24, 194, 10.1002/humu.20080 Papa, 2020, INSAID variant classification and eurofever criteria guide optimal treatment strategy in patients with TRAPS: data from the Eurofever Registry, J Allergy Clin Immunol Pract [Internet] Papa, 2017 Ibrahim, 2014, Ex vivo PBMC cytokine profile in familial Mediterranean fever patients: involvement of IL-1β, IL-1α and Th17-associated cytokines and decrease of Th1 and Th2 cytokines, Cytokine, 69, 248, 10.1016/j.cyto.2014.06.012 Bulua, 2010, Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS), J Exp Med, 208, 519, 10.1084/jem.20102049 Van Gijn, 2018, New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID), J Med Genet [Internet], 55, 530, 10.1136/jmedgenet-2017-105216 Chen, 2011, New insights into the enigma of immunoglobulin D, Immunol Rev, 237, 160, 10.1111/j.1600-065X.2010.00929.x Cantarini, 2013, Expanding spectrum of TNFRSF1A gene mutations among patients with idiopathic recurrent acute pericarditis, Intern Med J, 43, 725, 10.1111/imj.12163