TY - JOUR
T1 - Monogenic autoinflammatory syndromes: state of the art on genetic, clinical and therapeutic issues
AU - Caso, Francesco
AU - Rigante, Donato
AU - Vitale, Antonio
AU - Lucherini, Orso Maria
AU - Costa, Luisa
AU - Atteno, Mariangela
AU - Compagnone, Adele
AU - Caso, Paolo
AU - Frediani, Bruno
AU - Galeazzi, Mauro
AU - Punzi, Leonardo
AU - Cantarini, Luca
PY - 2013
Y1 - 2013
N2 - Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. Each of these conditions may manifest itself with more or less severe inflammatory symptoms of variable duration and frequency, associated with findings of increased inflammatory parameters in laboratory investigation. The purpose of this paper is to describe the main genetic, clinical, and therapeutic aspects of MAISs and their most recent classification with the ultimate goal of increasing awareness of autoinflammation among various internal medicine specialists.
AB - Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. Each of these conditions may manifest itself with more or less severe inflammatory symptoms of variable duration and frequency, associated with findings of increased inflammatory parameters in laboratory investigation. The purpose of this paper is to describe the main genetic, clinical, and therapeutic aspects of MAISs and their most recent classification with the ultimate goal of increasing awareness of autoinflammation among various internal medicine specialists.
KW - Autoinflammation
KW - Autoinflammation
UR - http://hdl.handle.net/10807/90092
U2 - 10.1155/2013/513782
DO - 10.1155/2013/513782
M3 - Article
SN - 1687-9260
VL - 2013
SP - 513782
EP - 513782
JO - International Journal of Rheumatology
JF - International Journal of Rheumatology
ER -