In the autoinflammatory diseases, pathogenic inflammation arises through aberrant, antigen-independent activation of the immune system. Many of these diseases present with recurrent fevers and are termed the periodic fever syndromes, although other features may sometimes dominate the clinical picture. The best characterized autoinflammatory diseases arise from mutations in single genes, but related mechanisms participate in many diseases in which inflammation contributes to tissue injury.
Panel test
Genetic test:
| RAB27A | PSMB8 | LYST | |
| LPIN2 | PSTPIP1 | NLRC4 | |
| MEFV | CARD14 | PRF1 | |
| MVK | IL1RN | RAB27A | |
| NLRP12 | IL36RN | SH2D1A | |
| NLRP3 | TMEM173 | SLC7A7 | |
| TNFRSF1A | AP3B1 | STX11 | |
| NLRC4 | BLOC1S6 | STXBP2 | |
| ELANE | CD27 | UNC13D | |
| CECR1 | ITK | XIAP | |
| NOD2 |
References
Guidelines
- Picard C, Gaspar B, Al-Herz W, Bousfiha A, Casanova J, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang ML, Tangye SG, Torgerson TR, Sullivan KE. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018; 38(1): 96-128. PubMed
