The laboratory approach in the diagnosis of systemic autoinflammatory diseases

• Published in: Reumatismo 2011-01, Vol.63 (2), p.101-110
• Main Authors: Cantarini, L, Rigante, D, Brizi, M G, Sebastiani, G D, Lucherini, O M, Galeazzi, M, Frediani, B
• Format: Article
• Language: eng ; ita
• Subjects: Apoptosis - genetics; Autoinflammatory diseases, cryopyrin, cytokine, familial mediterranean fever, genetics, hereditary familial fever, immune system, interleukin, serum amyloid-A, tumor necrosis factor receptor; Cytokines - blood; DNA Mutational Analysis; Genetic Association Studies; Hereditary Autoinflammatory Diseases - blood; Hereditary Autoinflammatory Diseases - classification; Hereditary Autoinflammatory Diseases - diagnosis; Hereditary Autoinflammatory Diseases - genetics; Hereditary Autoinflammatory Diseases - immunology; Humans; Immunity, Innate; Immunologic Tests; Inflammation - genetics; S100 Proteins - analysis; S100A12 Protein; Serum Amyloid A Protein - analysis
• ISSN: 0048-7449; 2240-2683
• DOI: 10.4081/reumatismo.2011.101

Systemic autoinflammatory diseases are a group of inherited disorders of the innate immunity characterized by the recurrence of febrile attacks lasting from few hours to few weeks and multi-district inflammation of different severity involving skin, serosal membranes, joints, gastrointestinal tube and central nervous system. The vast majority of these conditions is caused by mutations in genes involved in the control of inflammation and apoptosis mechanisms. The group includes familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, hereditary pyogenic and granulomatous disorders. Their diagnostic identification derives from the combination of clinical and biohumoral data, though can be sometimes confirmed by genotype analysis.