Periodic fever syndrome
(Redirected from
Autoinflammatory disease
)| Periodic fever syndrome | |
|---|---|
| Other names | Autoinflammatory diseases or Autoinflammatory syndromes |
| Specialty | Rheumatology, Immunology |
Periodic fever syndromes are a set of disorders characterized by recurrent episodes of
autoantibodies or antigen-specific T or B cells. Instead, the autoinflammatory diseases are characterized by errors in the innate immune system.[1]
The syndromes are diverse, but tend to cause episodes of fever, joint pains, skin rashes, abdominal pains and may lead to chronic complications such as amyloidosis.[2]
Most autoinflammatory diseases are genetic and present during childhood.pyrin.[citation needed]
Pyrin is a protein normally present in the
IL-1β. Most other autoinflammatory diseases also cause disease by inappropriate release of IL-1β.[4] Thus, IL-1β has become a common therapeutic target, and medications such as anakinra, rilonacept, and canakinumab have revolutionized the treatment of autoinflammatory diseases.[citation needed
]
However, there are some autoinflammatory diseases that are not known to have a clear genetic cause. This includes
PFAPA, which is the most common autoinflammatory disease seen in children, characterized by episodes of fever, aphthous stomatitis, pharyngitis, and cervical adenitis. Other autoinflammatory diseases that do not have clear genetic causes include adult-onset Still's disease, systemic-onset juvenile idiopathic arthritis, Schnitzler syndrome, and chronic recurrent multifocal osteomyelitis. It is likely that these diseases are multifactorial, with genes that make people susceptible to these diseases, but they require an additional environmental factor to trigger the disease.[citation needed
]
Individual periodic fever syndromes
| Name | OMIM
|
Gene |
|---|---|---|
| Familial Mediterranean fever (FMF) | 249100 | MEFV |
mevalonic aciduria) defined as a mevalonate kinase deficiency[5]
|
260920 | MVK
|
| TNF receptor associated periodic syndrome (TRAPS) | 142680 | TNFRSF1A
|
| CAPS: Muckle–Wells syndrome (urticaria deafness amyloidosis) | 191900 | NLRP3 |
Familial cold urticaria
|
120100 | NLRP3 |
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
|
| Yao syndrome (YAOS) | 617321 | NOD2 |
| Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache syndrome (ROSAH syndrome)[6] | 614979 | ALPK1 |
See also
- Kawasaki disease - possible autoinflammatory mechanism[7]
- Multisystem inflammatory syndrome in children
- List of cutaneous conditions
Further reading
- Hobart A. Reimann, Periodic Disease: a probable syndrome including periodic fever, benign paroxysmal peritonitis, cyclic neutropenia and intermittent arthralgia. JAMA, 1948.[8]
- Hobart A Reimann, Periodic Disease: periodic fever, periodic abdominalgia, cyclic neutropenia, intermittent arthralgia, angioneurotic edema, anaphylactoid purpura and periodic paralysis. JAMA, 1949.[9]
- Hobart A Reimann, Moadié, J; Semerdjian, S; Sahyoun, PF, Periodic Peritonitis—Heredity & Pathology: report of seventy-two cases. JAMA, 1954.[10]
- Hobart A Reimann, Periodic fever, an entity: A collection of 52 cases. AmJMedSci, 1962.[11]
References
- ^ Masters SL, Simon A, Aksentijevich I, et al. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease*. Annu Rev Immunol 2009;27(1):621–68
- S2CID 25948105.
- PMID 23827250.
- PMID 27639913.
- S2CID 23745920.
- PMID 35868845.
- PMID 30619331.
- PMID 18920089.
- PMID 18139542.
- PMID 13151833.
- S2CID 27897376.
External links
- Understanding Autoinflammatory Diseases - US National Institute of Arthritis and Musculoskeletal and Skin Diseases