Sindrome di Aicardi Goutieres

The Aicardi Goutières syndrome (AGS) is a rare genetic disease, with autosomal recessive transmission, that is placed in the category of interferonopathies, heterogeneous group of diseases that includes autoimmune and anthropic diseases, in which type 1 interferon plays a primary role. To date, about 350 cases have been reported, increasing in recent years, distributed around the world. The identified genes are 9, all likely involved in the process of degradation of nucleic acids that accumulate and determine an increase in the secretion of interferon-alpha. Biomarker of this pathology is the so-called "interferon signature (ISGs)", a method that goes to study the level of transduction of a group of genes stimulated by interferon type 1. Onset usually occurs in the first year of life, usually after a seemingly normal development, and manifests itself with symptoms such as irritability, sleep disturbance and recurrent fevers without obvious infections. The evolution is towards a subacute encephalopathy, with progressive evidence of delayed psychomotor development, reduction of the growth of the cranial circumference, neurological signs (spastic-dystonic tetraplegia, nystagmus, reduction of visual acuity and epilepsy) and extraneurological such as frostbite, acrocyanosis and periungual erythema. The encephalopathic phase usually lasts a few months, so the clinical picture stabilizes. Neuroradiological (cerebral calcifications, leukodystrophy, cerebral atrophy) and liqueur alterations are associated, such as chronic lymphocytosis and elevated levels of alpha interferon. Today the therapy is mainly symptomatic and makes use of antiepileptic drugs, respiratory physiotherapy, psychomotor therapy, dietary control and prevention of complications. Our research team has conducted several studies aimed at a better understanding of etiopathogenetic mechanisms (through the creation of pluripotent stem cells through epigenetic reprogramming techniques of somatic cells)better definition of the neurological and immune-rheumatological profile (to better delineate the natural history of the disease) and the development of new therapeutic strategies (such as the use of Jak-inhibitory drugs).