Aicardi–Goutières syndrome: A monogenic type I interferonopathy

A Liu, S Ying - Scandinavian Journal of Immunology, 2023 - Wiley Online Library
Aicardi–Goutières syndrome (AGS) is a rare monogenic autoimmune disease that primarily
affects the brains of children patients. Its main clinical features include encephalatrophy …

[HTML][HTML] Molecular genetics and interferon signature in the Italian Aicardi Goutières syndrome cohort: report of 12 new cases and literature review

J Garau, V Cavallera, M Valente, D Tonduti… - Journal of Clinical …, 2019 - mdpi.com
Aicardi-Goutières syndrome (AGS) is a genetically determined early onset encephalopathy
characterized by cerebral calcification, leukodystrophy, and increased expression of …

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi‐Goutières syndrome

G Ramantani, J Kohlhase, C Hertzberg… - Arthritis & …, 2010 - Wiley Online Library
Abstract Objective Aicardi‐Goutières syndrome (AGS) is an early‐onset encephalopathy
resembling congenital viral infection that is characterized by basal ganglia calcifications …

Late diagnosis and atypical brain imaging of Aicardi–Goutières syndrome: are we failing to diagnose Aicardi–Goutières syndrome‐2?

L Svingen, M Goheen, R Godfrey… - … Medicine & Child …, 2017 - Wiley Online Library
Aicardi–Goutières syndrome (AGS) is a rare disorder with in utero or postnatal onset of
encephalopathy and progressive neurological deterioration. The seven genetic subtypes of …

Astrocytes, an active player in Aicardi–Goutières syndrome

S Sase, A Takanohashi, A Vanderver… - Brain …, 2018 - Wiley Online Library
Aicardi–Goutières syndrome (AGS) is an early‐onset, autoimmune and genetically
heterogeneous disorder with severe neurologic injury. Molecular studies have established …

Novel and emerging treatments for Aicardi-Goutières syndrome

D Tonduti, E Fazzi, R Badolato… - Expert Review of Clinical …, 2020 - Taylor & Francis
ABSTRACT Introduction: Aicardi-Goutières syndrome (AGS) is the prototype of the type I
interferonopathies, a new heterogeneous group of autoinflammatory disorders in which type …

[HTML][HTML] Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières …

JH Livingston, YJ Crow - Neuropediatrics, 2016 - thieme-connect.com
The Aicardi–Goutières syndrome (AGS) was first described in 1984, and over the following
years was defined by the clinical and radiological features of an early onset, severe …

Late-Onset Aicardi-Goutières syndrome: a characterization of presenting clinical features

C Piccoli, N Bronner, F Gavazzi, H Dubbs… - Pediatric …, 2021 - Elsevier
Abstract Background Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy
characterized by early onset of severe neurological injury with intracranial calcifications …

Developmental outcomes of Aicardi Goutières syndrome

L Adang, F Gavazzi, M De Simone… - Journal of child …, 2020 - journals.sagepub.com
Aicardi Goutières syndrome is a monogenic interferonopathy caused by abnormalities in the
intracellular nucleic acid sensing machinery (TREX1, RNASEH2A, RNASEH2B …

Aicardi–goutieres syndrome

YJ Crow - Handbook of clinical neurology, 2013 - Elsevier
Aicardi-Goutières syndrome (AGS) is a genetically determined encephalopathy
demonstrating phenotypic overlap both with the sequelae of congenital infection and with …