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

From: Autoinflammatory diseases: a possible cause of thrombosis?

Monogenic disease Pathogenesis
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)