Periodic fever syndrome
Encyclopedia
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 pain
s and may lead to chronic complications such as amyloidosis
.
Restated, autoinflammatory syndromes are a group of inherited disorders characterized by bouts of inflammatory skin lesions and periodic fevers.
Periodic fever syndromes are medically distinct from immunodeficiency
conditions, in which infections can occur frequently and induce fever.
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.
Inflammation
Inflammation is part of the complex biological response of vascular tissues to harmful stimuli, such as pathogens, damaged cells, or irritants. Inflammation is a protective attempt by the organism to remove the injurious stimuli and to initiate the healing process...
are disturbed, leading to uncontrolled inflammation throughout the body. The syndromes are diverse, but tend to cause fever, joint pains
Arthralgia
Arthralgia literally means joint pain; it is a symptom of injury, infection, illnesses or an allergic reaction to medication....
, abdominal pain
Abdominal pain
Abdominal pain can be one of the symptoms associated with transient disorders or serious disease. Making a definitive diagnosis of the cause of abdominal pain can be difficult, because many diseases can result in this symptom. Abdominal pain is a common problem...
s and may lead to chronic complications such as amyloidosis
Amyloidosis
In medicine, amyloidosis refers to a variety of conditions whereby the body produces "bad proteins", denoted as amyloid proteins, which are abnormally deposited in organs and/or tissues and cause harm. A protein is described as being amyloid if, due to an alteration in its secondary structure, it...
.
Restated, autoinflammatory syndromes are a group of inherited disorders characterized by bouts of inflammatory skin lesions and periodic fevers.
Periodic fever syndromes are medically distinct from immunodeficiency
Immunodeficiency
Immunodeficiency is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent. Immunodeficiency may also decrease cancer immunosurveillance. Most cases of immunodeficiency are acquired but some people are born with defects in their immune system,...
conditions, in which infections can occur frequently and induce fever.
Individual periodic fever syndromes
| Name | OMIM | Gene |
|---|---|---|
| Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever is a hereditary inflammatory disorder. FMF is an autoinflammatory disease caused by mutations in MEFV, a gene which encodes a 781–amino acid protein denoted pyrin.... (FMF) |
MEFV MEFV MEFV is a human gene that provides instructions for making a protein called pyrin . Pyrin is produced in certain white blood cells that play a role in inflammation and in fighting infection... |
|
| Hyperimmunoglobulinemia D with recurrent fever (HIDS). This is now (along with mevalonic aciduria Mevalonic aciduria Mevalonate kinase deficiency, also called mevalonic aciduria, is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids.-Diagnosis:... ) defined as a mevalonate kinase deficiency |
MVK | |
| TNF receptor associated periodic syndrome TNF receptor associated periodic syndrome TNF receptor associated periodic syndrome is a periodic fever syndrome associated with mutations in a receptor for the molecule tumor necrosis factor that is inheritable in an autosomal dominant manner... (TRAPS) |
TNFRSF1A TNFRSF1A Tumor necrosis factor receptor superfamily member 1A is a protein that in humans is encoded by the TNFRSF1A gene. The protein encoded by this gene is a member of the Tumor necrosis factor receptor superfamily, which also contains TNFRSF1B. This protein is one of the major receptors for the tumor... |
|
| CAPS Cryopyrin-associated periodic syndrome Cryopyrin-associated periodic syndrome is a spectrum of autoinflammatory syndromes including familial cold autoinflammatory syndrome , the Muckle-Wells syndrome , and neonatal-onset multisystem inflammatory disease... : Muckle-Wells syndrome Muckle-Wells syndrome Muckle–Wells syndrome , also known as , is a rare autosomal dominant disease which causes sensorineural deafness, recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and painful joints. As a result, MWS is considered a type of periodic fever syndrome... (urticaria deafness amyloidosis) |
NLRP3 | |
| CAPS Cryopyrin-associated periodic syndrome Cryopyrin-associated periodic syndrome is a spectrum of autoinflammatory syndromes including familial cold autoinflammatory syndrome , the Muckle-Wells syndrome , and neonatal-onset multisystem inflammatory disease... : Familial cold urticaria Familial cold urticaria Familial cold urticaria is an autosomal dominant condition characterized by rash, conjunctivitis, fever/chills and arthralgias elicited by exposure to cold - sometimes temperatures below 22°C .It has been mapped to CIAS1 and is a slightly milder member of the disease family including Muckle–Wells... |
NLRP3 | |
| CAPS Cryopyrin-associated periodic syndrome Cryopyrin-associated periodic syndrome is a spectrum of autoinflammatory syndromes including familial cold autoinflammatory syndrome , the Muckle-Wells syndrome , and neonatal-onset multisystem inflammatory disease... : Neonatal onset multisystem inflammatory disease Neonatal onset multisystem inflammatory disease Neonatal onset multisystem inflammatory disease is a rare genetic periodic fever syndrome which causes uncontrolled inflammation in multiple parts of the body starting in the newborn period... (NOMID) |
NLRP3 | |
| Periodic fever, aphthous stomatitis, pharyngitis and adenitis Periodic fever, aphthous stomatitis, pharyngitis and adenitis Periodic fever, aphthous stomatitis, pharyngitis and adenitis or periodic fever aphthous pharyngitis and cervical adenopathy syndrome is a medical condition, typically starting in young children, in which high fever occurs periodically at intervals of about 3–5 weeks, frequently accompanied by... (PFAPA syndrome) |
none | ? |
| Blau syndrome Blau syndrome Blau syndrome is characterized by familial granulomatous arthritis, iritis, and skin granulomas, comprising an autosomal dominantly inherited syndrome that overlaps both sarcoidosis and granuloma annulare.... |
NOD2 NOD2 Nucleotide-binding oligomerization domain-containing protein 2 also known as caspase recruitment domain-containing protein 15 or inflammatory bowel disease protein 1 is a protein that in humans is encoded by the NOD2 gene located on chromosome 16. NOD2 plays an important role in the immune system... |
|
| Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) | \ | PSTPIP1 PSTPIP1 Proline-serine-threonine phosphatase-interacting protein 1 is an enzyme that in humans is encoded by the PSTPIP1 gene.-Interactions:PSTPIP1 has been shown to interact with PTPN12, PTPN18, BZW1, Abl gene, Wiskott-Aldrich syndrome protein and CD2.... |
| Deficiency of the interleukin-1–receptor antagonist Deficiency of the interleukin-1–receptor antagonist Deficiency of the interleukin-1–receptor antagonist is a rare, autosomal recessive, genetic autoinflammatory syndrome resulting from mutations in IL1RN, the gene encoding the interleukin 1 receptor antagonist.... (DIRA) |
IL1RN |
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.