Table 3

Clinical features suggestive of CANDLE/PRAAS, SAVI and AGS

Systemic inflammation
*CANDLE/PRAAS, SAVI, AGS*	Clinical features : Recurrent fever, hepatosplenomegaly Laboratory features: Elevated CRP, ESR and IFN signature
Skin manifestations
*CANDLE/PRAAS*	Neutrophilic panniculitis, nodular rashes, violaceous annular rashes, lipodystrophy
*SAVI*	Vasculopathy (ie, chilblain lesions, acral ischaemia ranging from Raynaud’s phenomenon to gangrene), loss of digits
*AGS*	Chilblain lesions, acral lesions (including Raynaud’s phenomenon), panniculitis
Neurological manifestations
*CANDLE/PRAAS*	Clinical features : Headache, cognitive impairment Lumbar puncture : Sterile pleocytosis Neuroimaging: Basal ganglia calcifications
*SAVI*	Neuroimaging: Basal ganglia calcifications (rare)
*AGS*	Clinical features : Subacute or acute onset of neurologic symptoms including developmental delay, irritability, neurological impairment or regression, dystonia and spasticity, focal motor findings, progressive microcephaly, seizures Lumbar puncture : Sterile pleocytosis, elevated CSF neopterin and tetrahydrobiopterin, elevated interferon alpha Neuroimaging : Leukoencephalopathy, cerebral calcifications, early and rapid cerebral atrophy with or without calcification, Moyamoya disease*
Pulmonary manifestations
*CANDLE/PRAAS*	Pulmonary hypertension without fibrosis
*SAVI*	Interstitial lung disease with or without secondary pulmonary hypertension
*AGS*	Pulmonary hypertension
Hepatic manifestations
*CANDLE/PRAAS*	Elevated transaminases, hepatic steatosis
*AGS*	Elevated transaminases, autoimmune hepatitis
Metabolic and endocrine manifestations
*CANDLE/PRAAS*	Hypertension, hyperlipidaemia, glucose intolerance (=metabolic syndrome)
*AGS*	Hypothyroidism, diabetes insipidus, diabetes
Musculoskeletal manifestations
*CANDLE/PRAAS,* *SAVI, AGS*	Myositis
*CANDLE/PRAAS,* *SAVI, AGS*	Arthritis, joint contractures
Growth and development
*CANDLE/PRAAS,* *SAVI, AGS*	Growth retardation, osteoporosis, bone development delay, pubertal delay
Haematological manifestations
*CANDLE/PRAAS,* *SAVI, AGS*	Anaemia, leucopenia, lymphopenia and/or thrombocytopenia
Ophthalmologic manifestations
*CANDLE/PRAAS*	Episcleritis and keratitis
*SAVI, AGS*	Retinopathy, glaucoma
Cardiac manifestations
*AGS*	Cardiomyopathy, valve calcifications

*Vasculopathy characterised by progressive narrowing of the terminal intracranial portion of the internal carotid artery and circle of Willis.
AGS, Aicardi-Goutières syndrome; CANDLE/PRAAS, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome; CRP, C-reactive protein; CSF, cerebrospinal fluid; ESR, erythrocyte sedimentation rate; IFN, interferon; SAVI, STING-associated vasculopathy with onset in Infancy.