Table 1 The autoinflammatory conditions of known genetic aetiology
From: Developments in the scientific and clinical understanding of autoinflammatory disorders
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 |