REVIEW  AUTO-INFLAMMATORY DISEASES 

Giornale Italiano di Dermatologia e Venereologia 2020 October;155(5):590-8

DOI: 10.23736/S0392-0488.20.06709-7

Copyright © 2020 EDIZIONI MINERVA MEDICA

language: English

Monogenetic causes of chilblains, panniculitis and vasculopathy: the Type I interferonopathies

Riccardo PAPA ^{1, 2}, Stefano VOLPI ^{1, 2} ✉, Marco GATTORNO ¹

¹ Autoinflammatory Diseases and Immunodeficiencies Center, IRCCS Istituto Giannina Gaslini, Genoa, Italy; ² Department of Neuroscience, Rehabilitation, Ophthalmology, Genetic and Maternal-Infant Sciences, University of Genoa, Genoa, Italy

Type I interferonopathies are a clinically heterogeneous group of inherited disorders of the innate immune system characterized by constitutive activation of the type I interferon signaling pathway. Cutaneous vasculopathy, lipodystrophy, interstitial lung disease and brain calcifications are the typical manifestations characterizing affected patients. The pathogenic mechanism commonly underlying these disorders is the abnormal activation of immune pathways involved in recognition of non-self-oligonucleotides. These natural defenses against virus consent humans to survive the infections. Target therapies capable of inhibiting type I interferon signaling pathway seem effective in these patients, albeit with possible incomplete responses and severe side effects.

KEY WORDS: Rheumatic diseases; Hereditary autoinflammatory diseases; Lupus erythematosus, systemic