Table 2

Summary of clinical and neurological features of selected autoinflammatory syndromes

Syndrome	Estimated prevalence	Cause	Adult-onset disease reported?	Key systemic features	Neurological features
Syndrome	Estimated prevalence	Cause	Adult-onset disease reported?	Key systemic features	Common	Well-described	Reported
Familial Mediterranean fever	1–5 per 10 000	MEFV	10% present after age 20	Abdominal pain Erysipelas-like erythema	Headache Prolonged febrile myalgia AA amyloidosis	Aseptic meningitis	Demyelination Ischaemic stroke PRES
TRAPS	1 per million	TNFRSF1A	10% present after age 30	Periorbital oedema	Headache	AA amyloidosis	Demyelination Seizures Vertigo Myositis
Muckle-Wells syndrome (CAPS)	1–3 per million	NLRP3	Median age of diagnosis 31.5	Symptoms triggered by cold exposure	Headache SNHL	AA amyloidosis	Aseptic meningitis Papilloedema Seizures Tolosa–Hunt syndrome
DADA2	Unknown	ADA2	Reported	Livedo reticularis	Lacunar stroke	Intracerebral haemorrhage	Neuropathy Ataxia SNHL Encephalopathy
Adult-onset Still’s disease	1–34 per million	Unknown	Bimodal age of onset (15-25, 36-46)	Evanescent rash Macrophage activation syndrome	Nil	Aseptic meningitis	Cranial neuropathies Encephalitis Ischaemic stroke SNHL
Schnitzler’s syndrome	Unknown	Unknown	Median age of onset 51	IgM gammopathy Chronic urticaria	Nil	Nil	Neuropathy Encephalopathy Vertigo Myoclonic seizures
SAPHO syndrome	1 per 10 000 Caucasians	Unknown	Average age of onset 30–50	Synovitis Acne Pustulosis, Hyperostosis Osteitis	Nil	Hypertrophic pachymeningitis Headache	Aseptic meningitis
VEXAS syndrome	Unknown	UBA1	Median age of diagnosis 64	Macrocytic anaemia	Nil	Nil	Ophthalmoplegia SNHL Bilateral vestibulopathy

CAPS, cryopyrin-associated periodic syndrome; DADA2, deficiency of ADA2; PRES, posterior reversible encephalopathy syndrome; SAPHO, synovitis, acne, pustulosis, hyperostosis, osteitis; SNHL, sensorineural hearing loss; TRAPS, TNF receptor-associated periodic syndrome; VEXAS, vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic.