Periodic fever syndrome
| Periodic fever syndrome | |
|---|---|
| Classification and external resources | |
| ICD-10 | E85.0 |
| ICD-9 | 277.31 |
| DiseasesDB | 9836 |
| eMedicine | article/952254 |
| MeSH | D056660 |
The periodic fever syndromes (also known as autoinflammatory syndromes) are a set of disorders, many of which are genetic disorders in which the mechanisms which initiate and control inflammation are disturbed, leading to uncontrolled inflammation throughout the body. The syndromes are diverse, but tend to cause fever, joint pains, abdominal pains and may lead to chronic complications such as amyloidosis.[1]
Restated, autoinflammatory syndromes are a group of inherited disorders characterized by bouts of inflammatory skin lesions and periodic fevers.[2]:148
Periodic fever syndromes are medically distinct from immunodeficiency conditions, in which infections can occur frequently and induce fever.
Individual periodic fever syndromes
| Name | OMIM | Gene |
|---|---|---|
| Familial Mediterranean fever (FMF) | 249100 | MEFV |
| Hyperimmunoglobulinemia D with recurrent fever (HIDS). This is now (along with mevalonic aciduria) defined as a mevalonate kinase deficiency[3] | 260920 | MVK |
| TNF receptor associated periodic syndrome (TRAPS) | 142680 | TNFRSF1A |
| CAPS: Muckle-Wells syndrome (urticaria deafness amyloidosis) | 191900 | NLRP3 |
| CAPS: Familial cold urticaria | 120100 | NLRP3 |
| CAPS: Neonatal onset multisystem inflammatory disease (NOMID) | 607115 | NLRP3 |
| Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome) | none | ? |
| Blau syndrome | 186580 | NOD2 |
| Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) | 604416\ | PSTPIP1 |
| Deficiency of the interleukin-1–receptor antagonist (DIRA) | 612852 | IL1RN |
References
- ↑ Stojanov S, Kastner DL (2005). "Familial autoinflammatory diseases: genetics, pathogenesis and treatment". Curr Opin Rheumatol 17 (5): 586–99. doi:10.1097/bor.0000174210.78449.6b. PMID 16093838.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ Houten SM, Frenkel J, Waterham HR (2003). "Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation". Cell. Mol. Life Sci. 60 (6): 1118–34. doi:10.1007/s00018-003-2296-4. PMID 12861380.
See also
The autoinflammatory syndromes are of crucial importance for immunology in general. These syndromes actually define diseases that are driven by the innate immune system. Therefore, these conditions define the diametric genetic and immunopathological opposites of the classical autoimmune diseases that are driven by B and T cells. These diseases actually define one boundary of the immulological disease continuum of inflammation against self.