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Autoinflammatory Syndrome
Periodic fever syndromes are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation. Unlike autoimmune disorders such as systemic lupus erythematosus, in which the disease is caused by abnormalities of the adaptive immune system, people with autoinflammatory diseases do not produce autoantibodies or antigen-specific T or B cells. Instead, the autoinflammatory diseases are characterized by errors in the innate immune system. 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. Most autoinflammatory diseases are genetic and present during childhood. The most common genetic autoinflammatory syndrome is familial Mediterranean fever, which causes short episodes of fever, abdominal pain, serositis, lasting less than 72 hours. It is caused by mutations in the MEFV gene, which codes for the protein pyrin. Pyrin is a protein norma ...
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Rheumatology
Rheumatology (Greek ''ῥεῦμα'', ''rheûma'', flowing current) is a branch of medicine devoted to the diagnosis and management of disorders whose common feature is inflammation in the bones, muscles, joints, and internal organs. Rheumatology covers more than 100 different complex diseases, collectively known as rheumatic diseases, which includes many forms of arthritis as well as lupus and Sjögren's syndrome. Doctors who have undergone formal training in rheumatology are called rheumatologists. Many of these diseases are now known to be disorders of the immune system, and rheumatology has significant overlap with immunology, the branch of medicine that studies the immune system. Rheumatologist A rheumatologist is a physician who specializes in the field of medical sub-specialty called rheumatology. A rheumatologist holds a board certification after specialized training. In the United States, training in this field requires four years undergraduate school, four year ...
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Anakinra
Anakinra, sold under the brand name Kineret, is a biopharmaceutical medication used to treat rheumatoid arthritis, cryopyrin-associated periodic syndromes, familial Mediterranean fever, and Still's disease. It is a recombinant and slightly modified version of the human interleukin 1 receptor antagonist protein. It is marketed by Swedish Orphan Biovitrum. Anakinra is administered by subcutaneous injection. Medical uses It is used as a second line treatment to manage symptoms of rheumatoid arthritis after treatment with a disease-modifying antirheumatic drug (DMARD) has failed. It can be used in combination with some DMARDs. It is used to people with a cryopyrin-associated periodic syndrome, including neonatal-onset multisystem inflammatory disease. It is used to treat Schnitzler's syndrome (off label in the US). Its response rate is such that it has been suggested that "Treatment failures should lead to reconsider the diagnosis." Off label, it is used to treat systemic juven ...
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Hyperimmunoglobulinemia D With Recurrent Fever
Mevalonate kinase deficiency (MKD) is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids. It is a very rare genetic disease. It is characterized by an elevated level of immunoglobulin D in the blood. Mevalonate kinase (MVK) is an enzyme involved in biosynthesis of cholesterols and isoprenoids and is necessary for the conversion of mevalonate to mevalonate-5-phosphate in the presence of Mg2+. MKD is due to a mutation in the gene that encodes mevalonate kinase which results in a reduced or deficient activity of this enzyme. Because of this deficiency, mevalonic acid can build up in the body, with high levels found in the urine. The severity of MKD depends on the level of this deficiency with hyperimmunoglobulinemia D syndrome (first described as HIDS in 1984) being less severe, but more common, and mevalonic aciduria (MVA); a more severe, but rarer form. Genetics Mevalonate kinase deficiency is inherited in an autosomal r ...
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Familial Mediterranean Fever
Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder. FMF is an autoinflammatory disease caused by mutations in Mediterranean fever gene, which encodes a 781–amino acid protein called pyrin. While all ethnic groups are susceptible to FMF, it usually occurs in people of Mediterranean origin—including Sephardic Jews, Mizrahi Jews, Ashkenazi Jews, Assyrian People, Assyrians, Armenians, Azerbaijanis, Levantine people, Levantines, Kurds, Greeks, Turkish people, Turks and Italians. The disorder has been given various names, including familial paroxysmal polyserositis, periodic peritonitis, recurrent polyserositis, benign paroxysmal peritonitis, periodic disease or periodic fever, Reimann periodic disease or Reimann syndrome, Siegal-Cattan-Mamou disease, and Wolff periodic disease. Note that "periodic fever" can also refer to any of the periodic fever syndromes. Signs and symptoms Attacks There are seven types of attacks. Ninety percent of all patients have t ...
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OMIM
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Dr. Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ...
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Chronic Recurrent Multifocal Osteomyelitis
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare condition (1:1,000,000), in which the bones have lesions, inflammation, and pain. It is called ''multifocal'' because it can appear in different parts of the body, primarily bones, and ''osteomyelitis'' because it is very similar to that disease, although CRMO appears to be without any infection. The definition of CRMO is evolving. Many doctors and articles described CRMO as an autoimmune disease that has symptoms similar to osteomyelitis, but without the infection. Some doctors thought CRMO was related to SAPHO syndrome. Research now classifies CRMO as an inherited autoinflammatory disease but have yet to isolate the exact gene or other causes responsible for it. Symptoms and signs Symptoms may include bone and joint pain, skin redness or inflammation, Inflammatory bowel disease, Psoriasis, and Blister-like lesions on the palms and/or soles of the feet. Cause Some specialists believe they have discovered a link ...
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Schnitzler Syndrome
There have been several people named Schnitzler ( he, שניצלר): * Arthur Schnitzler (born 1862), an Austrian playwright and author, son of Johann * Barbara Schnitzler (born 1953, Berlin), a German actress (de) * Claude Schnitzler (born 1949, Strasbourg), an Alsatian-French organist (fr) * Conrad Schnitzler (born 1937, Düsseldorf), a German experimental musician * Dierk H. Schnitzler, a German senior police officer in Bonn (1993–2002) * Friedrich Wilhelm Schnitzler (born 1928, Ohnastetten), a German business manager and CDU politician * Johann Schnitzler (born 1835), a Jewish Hungarian-Austrian laryngologist, father of Arthur *Liliane Schnitzler, French dermatologist who first described Schnitzler syndrome * Michoel Schnitzler, a chassidic singer * René Schnitzler (born 1985, Mönchengladbach), a German football player Von Schnitzler ''Schnitzler'' is also a Prussian aristocrat: * Karl Eduard Schnitzler (1792, Gräfrath – 1864, Köln) (de) ** Eduard Schnitzler (1 ...
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Systemic-onset Juvenile Idiopathic Arthritis
Systemic-onset juvenile idiopathic arthritis (or the juvenile onset form of Still's disease) is a type of juvenile idiopathic arthritis (JIA) with extra-articular manifestations like fever and rash apart from arthritis. It was originally called systemic-onset juvenile rheumatoid arthritis or Still's disease. Predominantly extra-articular manifestations like high fevers, rheumatic rash, enlargement of the liver and spleen, enlargement of the lymph nodes, and anemia. Other manifestations include inflammation of the pleura, inflammation of the pericardium, inflammation of the heart's muscular tissue, and inflammation of the peritoneum are also seen. It is sometimes called "juvenile-onset Still's disease" to distinguish it from adult-onset Still's disease. However, there is some evidence that the main difference between two conditions is the age of onset. Presentation Systemic JIA is characterized by arthritis, fever, which typically is higher than the low-grade fever associate ...
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Adult-onset Still's Disease
Adult-onset Still's disease (AOSD) is a form of Still's disease, a rare systemic autoinflammatory disease characterized by the classic triad of fevers, joint pain, and a distinctive salmon-colored bumpy rash. The disease is considered a diagnosis of exclusion. Levels of the iron-binding protein ferritin may be extremely elevated with this disorder. AOSD may present in a similar manner to other inflammatory diseases and to autoimmune diseases, which must be ruled out before making the diagnosis. Prognosis is usually favorable but manifestations of the disease affecting the lungs, heart, or kidneys may occasionally cause severe life-threatening complications. It is treated first with corticosteroids such as prednisone. Medications that block the action of interleukin-1, such as anakinra, can be effective treatments when standard steroid treatments are insufficient. Obvious similarities exist with juvenile rheumatoid arthritis (also known as "juvenile-onset Still's disease"), and ...
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Adenitis
Adenitis is a general term for an inflammation of a gland. Often it is used to refer to lymphadenitis which is the inflammation of a lymph node. Classification Lymph node adenitis ''Lymph adenitis'' or ''lymph node adenitis'' is caused by infection in lymph nodes. The infected lymph nodes typically become enlarged, warm and tender. A swelling of lymph nodes due to growth of lymph cells is called lymphadenopathy. Types include: * Neck ** Cervical adenitis is an inflammation of a lymph node in the neck. ** Tuberculous adenitis ( scrofula) is a tuberculous infection of the skin of the neck caused by ''Mycobacterium tuberculosis''. Non-tuberculous adenitis can also be caused by ''Mycobacterium scrofulaceum'' or ''Mycobacterium avium''. * Abdomen ** Mesenteric adenitis is an inflammation of the mesenteric lymph nodes in the abdomen. It can be caused by the bacterium ''Yersinia enterocolitica''.Ellis H, Calne R, Watson C. ''Lecture Notes on General Surgery'' tenth edition, p. 28. If i ...
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Pharyngitis
Pharyngitis is inflammation of the back of the throat, known as the pharynx. It typically results in a sore throat and fever. Other symptoms may include a runny nose, cough, headache, difficulty swallowing, swollen lymph nodes, and a hoarse voice. Symptoms usually last 3–5 days, but can be longer depending on cause. Complications can include sinusitis and acute otitis media. Pharyngitis is a type of upper respiratory tract infection. Most cases are caused by a viral infection. Strep throat, a bacterial infection, is the cause in about 25% of children and 10% of adults. Uncommon causes include other bacteria such as ''gonococcus'', fungi, irritants such as smoke, allergies, and gastroesophageal reflux disease. Specific testing is not recommended in people who have clear symptoms of a viral infection, such as a cold. Otherwise, a rapid antigen detection test or throat swab is recommended. PCR testing is becoming commonly used as it is as good as taking a throat swab but gives a ...
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Aphthous Stomatitis
Aphthous stomatitis, or recurrent aphthous stomatitis (RAS), is a common condition characterized by the repeated formation of benign and non- contagious mouth ulcers (aphthae) in otherwise healthy individuals. The informal term ''canker sore'' is also used, mainly in North America, although it may also refer to other types of mouth ulcers. The cause is not completely understood but involves a T cell-mediated immune response triggered by a variety of factors which may include nutritional deficiencies, local trauma, stress, hormonal influences, allergies, genetic predisposition, certain foods, dehydration, some food additives, or some hygienic chemical additives like SDS (common in toothpaste). These ulcers occur periodically and heal completely between attacks. In the majority of cases, the individual ulcers last about 7–10 days, and ulceration episodes occur 3–6 times per year. Most appear on the non-keratinizing epithelial surfaces in the mouth – i.e. anywhere exce ...
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