Aicardi-Goutieres syndrome(s) (subclassifications 1-7); aka Familial infantile encephalopathy, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis
AGS (includes subclassifications AGS1-7: see "Gene" area below)
Interferon Mediated Autoinflammatory Diseases
Neonatal onset, high mortality: TREX1 (AGS1), RNASEH2A (AGS4), RNASEH2C (AGS3). Later onset, lower mortality: IFIH1 (AGS7), DSRAD (AGS6), SAMHD1 (AGS5), RNASEH2B (AGS2)
Autosomal recessive in most cases. TREX1 and DSRAD can also present as autosomal dominant.
Timing of symptoms:
Episodes can last for months with the onset of symptoms and encephalopathy, in the first year of life. 40% have chilblains exacerbated by the cold, starting after 1 year of age. . Some with continuous symptoms from birth. 
Age of onset:
Encephalopathy is often the first symptom noted in the first year of life, with fevers, irritability and progressive neurologic changes with flares of symptoms. 40% of patients develop chilblains lesions, starting in early childhood. 20% of cases have AGS symptoms at birth, but most are asymptomatic at birth.  25% Die within the first year of age. , 
Chiblains are the classic skin symptom seen in 40% of patients with AGS, and may be start to develop after the first year of life.  They can be cold-induced and/or exacerbated by cold exposure. Chilblains can be painful, pruitic, swollen, and present on the distal areas of the ears, fingers and toes. There is a range of severity, from cold fingers and toes, and/or erythematous plaques to severe tissue damage and auto-amputation.  Microvascular vasculitis noted. , . May present with purpura, petechiae, acrocyanosis. Neonatal jaundice in some patients.  Some have aphthous ulcers 
Fever lasting days or weeks during attacks of symptoms, with Irritabiliity. Some have seizures. Progressive encephalopathy and cerebral atrophy, mental delay and damage, starting in infancy. , ,  Worsening microcephaly. . Worsening cognitive and mental regression with deficits, that can progress to a persistent vegetative state, or death. Dystonia, Low IQ . Calcifications in the white matter, or basal ganglia noted. . Leukoencephalopathy. Lymphocytosis in the CSF. 
Not noted. , , 
Progressive eye involvement due to neurologic damage. . Glaucoma, and/or cataracts in some cases.  Visual inattention. , ,  and ocular jerking in some cases. 
Not noted. , , 
Vomiting, feeding difficulties are common.  Uncommon: hepatomegaly, splenomegaly (hepatosplenomegaly) , , .
Some cases with splenomegaly. , 
Joints bones muscles cartilage:
Some with stiff joints. Spasticity, dystonia of the limbs or hypotonia of the trunk noted. 
Vasculitis in the small vessels noted on skin biopsy of distal lesions from chilblains. 
Not noted. , , 
High: Liver enzymes, abnormal liver function tests (LFTs). CSF lymphocytosis, with increased serum and CSF alpha interferon levels. . Low: Thrombocytopenia, Normal: ESR, CRP, ANA, lupus anticoagulant, Anticardiolipin, antiphospolipid, IgG, IgM, cryoglobulins, alpha-1 antitripsin. 
Aicardi-Goutieres syndrome, Familial infantile encephalopathy with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis, Familial infantile encephalopathy,encephalopathy, interferon, TREX1, AGS1, RNASEH2A, AGS4, RNASEH2C, AGS3, IFIH1, AGS7, DSRAD, AGS6, SAMHD1, AGS5, RNASEH2B, AGS2, liver function tests, LFT, cerebrospinal lyphocytosis, high lymphocytes CSF, CSF lymphocytosis, vasculitis, chilblains, dystonia, spasticity, splenomegaly, vomiting, feeding difficulties, basal ganglia calcification, calcification, encephalopathy, calcification white matter, purpura, petechiae, acrocyanosis, aphthous ulcers, mouth ulcers, mouth sores, erythematous plaques, cold-induced, cold triggered, cold-triggered, amputation, microvascular vasculitis, cold-induced rash, cold induced, cold induced rash, cold lesions, temperature chilblains, CSF alpha interferon levels, mental deficit, cognitive delay, mental delay, developmental delay, retardation, persistent vegetative state, cold chilblains, pain, seizures, tissue damage, auto-amputation, tissue damage, necrosis, failure to thrive, abdominal pain, vasculitis, fever, cold-triggered fever, cold, cold rash
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