Managed diseases

Diagnostic and therapeutic management of patients
presenting an autoinflammatory disease:

Hereditary recurrent fevers:

• Familial Mediterranean fever or periodic disease (FMF)
• Mevalonate kinase deficiency (MKD): hyper-IgD syndrome, mevalonic aciduria
• TNFR deficiency (TRAPS)
• Cryopyrin deficiency (CAPS): Familial cold urticaria, Muckle-Wells syndrome, CINCA syndrome
• NLRP12-associated periodic syndrome (NAPS12)
• DIRA: Deficiency of the Interleukin-1 Receptor Antagonist
• DITRA syndrome : Deficiency of the Interleukin-36 Receptor
• CANDLE syndrome: Japanese recurrent fever, Nakajo Nishimura syndrome

Pyogenic and granulomatous diseases:

• Chronic recurrent multifocal osteomyelitis, Majeed syndrome
• PAPA Syndrome
• BLAU syndrome (familial early-onset sarcoidosis)
• Cherubism

Multifactorial diseases or those of unknown cause:

• Marshall’s Syndrome (PFAPA)
• Juvenile idiopathic arthritis (JIA)
• Behcet’s disease
• Chronic recurrent multifocal osteomyelitis nonsyndromic: SAPHO
• Non-characterised autoinflammatory diseases including unexplained recurrent fever syndromes