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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
  1. 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.