Table 4.

Periodic fever syndromes and other inherited autoinflammatory diseases

Periodic fever syndrome without known inheritance
  • PFAPA syndromeNone
Periodic fever syndrome with known inheritance
  • Cryopyrin-associated periodic syndromes
    -Familial cold autoinflammatory syndromeAD
    -Muckle-Wells syndromeAD
    -Neonatal onset multisystem inflammatory diseaseAD or de novo
  • Mevalonate kinase deficiency (hyper-IgD with periodic fever syndrome)AR
  • Familial cold autoinflammatory syndrome 2AD
  • Cyclic hematopoiesis or cyclic neutropeniaAD or de novo
Diseases with pyogenic lesions
  • Deficiency of interleukin-1 receptor antagonistAR
  • Pyogenic arthritis, pyoderma gangrenosum, and acne syndromeAD
Diseases with granulomatous lesions
  • Blau syndromeAD
Diseases with psoriasis
  • Deficiency of interleukin-36 receptor antagonistAR
  • CARD14-mediated psoriasisAD
Interferonopathies; diseases with panniculitis-induced lipoatrophy
  • CANDLE syndromeAR
  • Joint contractures, muscle atrophy, and panniculitis-induced lipodystrophy syndromeAR
  • Nakajo-Nishimura syndromeAR
  • Aicardi-Goutières syndromeAR
  • PLCγ2-associated antibody deficiency and immune dysregulation syndromeAD
Polygenic autoinflammatory diseases*
  • Behçet diseaseUnknown
  • Chronic recurrent multifocal osteomyelitisUnknown
  • GoutUnknown
  • Systemic juvenile idiopathic arthritisUnknown
  • AD—autosomal dominant; AR—autosomal recessive; CANDLE—chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; CARD14—caspase recruitment domain family member 14; FMF—familial Mediterranean fever; hyper-IgD—hyperimmunoglobulin D; PFAPA—periodic fever, aphthous stomatitis, pharyngitis, and adenitis; PLCγ2—phospholipase Cγ2; TRAPS—tumor necrosis factor receptor–associated periodic syndrome.

  • * Many more polygenic autoinflammatory diseases continue to be described.