title: Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.
abstract: Aicardi-Goutières syndrome (AGS) is a rare genetic encephalopathy characterized by neurological and extraneurological involvement. A clinical overlap between AGS and systemic lupus erythematosus (SLE) has been reported. We describe an AGS patient who developed autoimmune manifestations: thyroiditis, cANCA positivity, antiphospholipid antibodies and cerebral ischemia. This first description of antiphospholipid syndrome in a TREX1-mutated patient further expands the clinical spectrum of AGS. Although the clinical overlap with SLE may indicate common pathogenic mechanisms, the autoimmune manifestations in AGS are so extensive that we suggest they should be considered a clinical feature of the disease, rather than a sign of coexistent SLE.
authors.affiliation: Child Neuropsychiatry Unit, National Neurological Institute C. Mondino, Pavia, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Olivieri
authors.forename: M
authors.initials: M
authors.lastname: Cattalini
authors.forename: D
authors.initials: D
authors.lastname: Tonduti
authors.forename: R
authors.initials: R
authors.lastname: La Piana
authors.forename: C
authors.initials: C
authors.lastname: Uggetti
authors.forename: J
authors.initials: J
authors.lastname: Galli
authors.forename: A
authors.initials: A
authors.lastname: Meini
authors.forename: A
authors.initials: A
authors.lastname: Tincani
authors.forename: D
authors.initials: D
authors.lastname: Moratto
authors.forename: E
authors.initials: E
authors.lastname: Fazzi
authors.forename: U
authors.initials: U
authors.lastname: Balottin
authors.forename: S
authors.initials: S
authors.lastname: Orcesi
mesh_terms: D020274:Autoimmune Diseases of the Nervous System / Q000235:genetics / Q000276:immunology*; D002675:Child, Preschool; D005090:Exodeoxyribonucleases / Q000235:genetics*; D006801:Humans; D007107:Immune System / Q000502:physiology*; D008180:Lupus Erythematosus, Systemic / Q000276:immunology; D008297:Male; D009154:Mutation; D009421:Nervous System Malformations / Q000235:genetics / Q000276:immunology*; D010750:Phosphoproteins / Q000235:genetics*
chemical_list: D010750:Phosphoproteins; D005090:Exodeoxyribonucleases; C429526:three prime repair exonuclease 1
keywords: Aicardi-Goutières syndrome; TREX1; antiphospholipid syndrome; autoimmune; systemic lupus erythematosus