A large-scale genetic analysis reveals an autoimmune origin of idiopathic retroperitoneal fibrosis

Martorana, D.; Marquez, A.; Carmona, F. D.; Bonatti, F.; Adorni, A.; Urban, M. L.; Maritati, F.; Accorsi Buttini, E.; Marvisi, C.; Palmisano, A.; Rossi, G. M.; Trivioli, G.; Fenaroli, P.; Manenti, L.; Nicastro, M.; Incerti, M.; Gianfreda, D.; Bani, S.; Ferretti, S.; Corradi, D.; Alberici, F.; Emmi, G.; Di Scala, G.; Moroni, G.; Percesepe, A.; Scheel, P. J.; Vermeer, E.; van Bommel, E. F.; Martin, J.; Vaglio, A.

doi:10.1016/j.jaci.2018.06.045

Idiopathic retroperitoneal fibrosis (RPF) is a rare condition included in the spectrum of IgG4-related disease characterized by a fibroinflammatory tissue usually surrounding the abdominal aorta and iliac arteries. It was initially thought to result from a reaction to aortic atherosclerosis; however, given its frequent association with autoimmune diseases and its sensitivity to immunosuppressive therapies, it is now considered a systemic autoimmune condition. The genetic basis of the disease is poorly investigated. We performed a large-scale immunogenetic study of idiopathic RPF by using the Immunochip, an array focused on autoimmunity-associated gene variants.

A large-scale genetic analysis reveals an autoimmune origin of idiopathic retroperitoneal fibrosis / Martorana D.; Marquez A.; Carmona F.D.; Bonatti F.; Adorni A.; Urban M.L.; Maritati F.; Accorsi Buttini E.; Marvisi C.; Palmisano A.; Rossi G.M.; Trivioli G.; Fenaroli P.; Manenti L.; Nicastro M.; Incerti M.; Gianfreda D.; Bani S.; Ferretti S.; Corradi D.; Alberici F.; Emmi G.; Di Scala G.; Moroni G.; Percesepe A.; Scheel P.J.; Vermeer E.; van Bommel E.F.; Martin J.; Vaglio A.. - In: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. - ISSN 0091-6749. - ELETTRONICO. - 142:(2018), pp. 1662-1665. [10.1016/j.jaci.2018.06.045]