Table 1 Classification of autoinflammatory diseases and their pathogenesis (modified from Ozen S, Nature Rev Rheumatol 2014; 10:135–147)

Periodic fever diseases

Familial Mediterranean fever, FMF

Defects of IL-1Β family regulation

Hypepr IgD Syndrome, HIDS

Defects of IL-1Β family regulation

TNF-receptor-associated periodic syndrome, TRAPS

Protein mis-folding

Familial cold autoinflammatory syndrome 2, FCAS2

NFk-B activation

Cryopirin-associated periodic syndromes

Defects of IL-1Β family regulation

Diseases with pyogenic lesions

Deficiency of IL-1 receptor antagonist, DIRA

Defects of IL-1Β family regulation

Pyogenic arthritis, pyoderma gangrenosum and acne syndrome, PAPA

Defects of IL-1Β family regulation

Majeed syndrome

Defects of IL-1Β family regulation

Diseases with granulomatous lesions

Blau syndrome

NFk-B activation

Diseases with psoriasis

Deficiency of IL-36 receptor antagonist

Altered IL-36 regulation

Diseases with panniculitis-induced lipodistrophy

Joint contractures, muscle atrophy and panniculitis-induced lipodistrophy syndrome, JMP

Disease linked to the proteasome and/or IFN-γ

Chronic atypical neutrophilic dermatosis with lipodistrophy and elevated temperature, CANDLE

Disease linked to the proteasome and/or IFN-γ

Nakajo-Nishimura syndrome, NNS

Disease linked to the proteasome and/or IFN-γ

Others

PLCγ2-associated antibody deficiency and immune dysregulation syndrome, APLAID

Alteration of inflammation signalling and immune response

Poligenic diseases

Gout

IL-1B activation

Schnitzler syndrome

IL-1B activation

Behçet disease

Spontaneous and/or induced overexpression of pro-inflammatory Th1 type cytokines – HLA-B51

Systemic-onset juvenile idiopathic arthritis (JIA)

IL-1B activation

Crohn’s disease

Altered innate and adaptive immune system (Th1 and Th17 mediated process)

Aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome

Altered innate and adaptive immune system (IL-1B–18 activation and Th1 chemokines induction)