Periodic fever syndrome

Periodic fever syndrome
Classification and external resources
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

  1. ^ 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. 
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ^ 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.