Table 1

The autoinflammatory conditions of known genetic aetiology
Periodic fever syndrome	Gene	Mode of inheritance	Predominant ethnic groups	Usual age at onset	Potential precipitants of attacks	Distinctive clinical features	Duration of attacks	Typical frequency of attacks	Characteristic laboratory abnormalities	Treatment

FMF	MEFV Chromosome 16	Autosomal recessive (dominant in rare families)	Eastern Mediterranean	Childhood/early adult	Usually none and occasionally menstruation, fasting, stress, and trauma	Short severe attacks, colchicin e-responsive, and erysipelas-like erythema	1 to 3 days	Variable	Marked acute-phase response during attacks	Colchicine
TRAPS	TNFRSF1A Chromosome 12	Autosomal dominant and can be de novo	Northern European but reported in many ethnic groups	Childhood/early adult	Usually none	Prolonged symptoms	More than a week and may be very prolonged	may be continuous	Marked acute-phase response during attacks and low levels of soluble TNFR1 when well	Etanercept and high-dose corticosteroids
HIDS	MVK Chromosome 12	Autosomal recessive	Northern European	Infancy	Immunisations	Diarrhoea and lymphadenopathy	3 to 7 days	1 to 2 monthly	Elevated IgD and IgA, acute-phase response, and mevalonate aciduria during attacks	Anti-TNF and anti-IL-1 therapies
FCAS	NLRP3 Chromosome 1	Autosomal dominant	Northern European	Childhood	Exposure to cold Environment	Cold-induced fever, arthralgia, rash, and conjunctivitis	24 to 48 hours	Depends on Environmental factors	Acute-phase response during attacks and to a lesser extent when well	Cold avoidance and anti-IL-1 therapies
MWS	NLRP3 Chromosome 1	Autosomal dominant	Northern European	Neonatal/infancy	Marked diurnal variation and cold environment but less marked than in FCAS	Urticarial rash, conjunctivitis, and sensorineural deafness	Continuous, often worse in the evenings	Often daily	Varying but marked acute-phase response most of the time	Anti-IL-1 therapies
CINCA/NOMID	NLRP3 Chromosome 1	Sporadic	Northern European	Infancy	None	Urticarial rash, aseptic meningitis, deforming arthropathy, ensorineural deafness, and mental retardation	Continuous	Continuous	Varying but marked acute-phase response most of the time	Anti-IL-1 therapies
PAPA	PSTPIP1 (CD2BP1) Chromosome 15	Autosomal dominant	Northern European (only 3 families reported)	Childhood	None	Pyogenic arthritis, pyoderma gangrenosum, and cystic acne	Intermittent attacks with migratory arthritis	Variable and may be continuous	Acute-phase response during attacks	Anti-TNF therapy
Blau syndrome	NOD2 (CARD15) Chromosome 16	Autosomal dominant	None	Childhood	None	Granulomatous polyarthritis, iritis, and dermatitis	Continuous	Continuous	Sustained modest acute-phase response	Corticosteroids

CINCA, chronic infantile neurological, cutaneous, and articular syndrome; FCAS, familial cold autoinflammatory syndrome; FMF, familial Mediterranean fever; IL, interleukin; MVK, mevalonate kinase; MWS, Muckle-Wells syndrome; NOMID, neonatal onset multisystem inflammatory disease; PAPA, pyogenic sterile arthritis, pyoderma gangrenosum, and acne; TNF, tumour necrosis factor; TNFR1, tumour necrosis factor receptor 1; TNFRSF1A, tumour necrosis factor receptor superfamily 1A; TRAPS, tumour necrosis factor receptor-associated periodic syndrome.
Lachmann and Hawkins Arthritis Research & Therapy 2009 11:212 doi:10.1186/ar2579