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Autoinflammatory Diseases
Autoinflammatory diseases (AIDs) are a group of rare disorders caused by dysfunction of the innate immune system. These responses are characterized by periodic or chronic systemic inflammation, usually without the involvement of Adaptive immune system, adaptive immunity. Autoinflammatory diseases are a separate class from autoimmune diseases; however, both are characterized by an immune system malfunction that may cause similar symptoms, such as rash, Edema, swelling, or fatigue. However, the main source of the diseases are different. A key difference between the two classes of diseases is that while AIDs trigger a malfunction of the innate immune system, autoimmune diseases trigger a malfunction of the adaptive immune system. The boundaries between autoinflammation (overactivity of the innate immunity), autoimmunity (overactivity of the adaptive immunity), and immunodeficiency (decreased activity of the innate or adaptive immunity) are often fluid. Clinical phenotypes associat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Innate Immune System
The innate, or nonspecific, immune system is one of the two main immunity strategies (the other being the adaptive immune system) in vertebrates. The innate immune system is an older evolutionary defense strategy, relatively speaking, and is the dominant immune system response found in plants, fungi, insects, and primitive multicellular organisms (see Beyond vertebrates).. The major functions of the innate immune system are to: * recruit immune cells to infection sites by producing chemical factors, including chemical mediators called cytokines * activate the complement cascade to identify bacteria, activate cells, and promote clearance of antibody complexes or dead cells * identify and remove foreign substances present in organs, tissues, blood and lymph, by specialized white blood cells * activate the adaptive immune system through antigen presentation * act as a physical and chemical barrier to infectious agents; via physical measures such as skin and chemical measures such a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PFAPA
Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome is a medical condition, typically occurring in young children, in which high fever occurs periodically at intervals of about 3-5 weeks, frequently accompanied by aphthous-like ulcers, pharyngitis and/or cervical adenitis ( cervical lymphadenopathy). The syndrome was described in 1987 and named two years later. Signs and symptoms The key symptoms of PFAPA are those in its name: periodic high fever at intervals of about 3–5 weeks, as well as aphthous ulcers, pharyngitis and/or adenitis. In between episodes, and even during the episodes, the children appear healthy. At least 6 months of episodes. Diagnosis requires recurrent negative throat cultures and that other causes (such as EBV, CMV, FMF) be excluded. Cause The cause of PFAPA is unknown. It is frequently discussed together with other periodic fever syndromes. Possible causes include primarily genetic factors or it may be due to an initial infection. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemophagocytic Lymphohistiocytosis
Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British spelling), and hemophagocytic or haemophagocytic syndrome, is an uncommon hematologic disorder seen more often in children than in adults. It is a life-threatening disease of severe hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and macrophages, characterised by proliferation of morphologically benign lymphocytes and macrophages that secrete high amounts of inflammatory cytokines. It is classified as one of the cytokine storm syndromes. There are inherited and non-inherited (acquired) causes of hemophagocytic lymphohistiocytosis (HLH). Signs and symptoms The onset of HLH occurs before the age of one year in approximately 70 percent of cases. Familial HLH should be suspected if siblings are diagnosed with HLH or if symptoms recur when therapy has been stopped. Familial HLH is an autosomal recessive disease, hence each sibling of a child with familial ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis
Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome is a medical condition, typically occurring in young children, in which high fever occurs periodically at intervals of about 3-5 weeks, frequently accompanied by aphthous-like ulcers, pharyngitis and/or cervical adenitis ( cervical lymphadenopathy). The syndrome was described in 1987 and named two years later. Signs and symptoms The key symptoms of PFAPA are those in its name: periodic high fever at intervals of about 3–5 weeks, as well as aphthous ulcers, pharyngitis and/or adenitis. In between episodes, and even during the episodes, the children appear healthy. At least 6 months of episodes. Diagnosis requires recurrent negative throat cultures and that other causes (such as EBV, CMV, FMF) be excluded. Cause The cause of PFAPA is unknown. It is frequently discussed together with other periodic fever syndromes. Possible causes include primarily genetic factors or it may be due to an initial infection. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blau Syndrome
Blau syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and joints. It is caused by a mutation in the ''NOD2'' (''CARD15'') gene. Symptoms usually begin before the age of four, and the disease manifests as early onset cutaneous sarcoidosis, granulomatous arthritis, and uveitis. Presentation Cause The elucidation that the gene defect in Blau syndrome involves the ''CARD15''/''NOD2'' gene has stimulated many investigators to define how this gene operates as part of the innate immune system. The innate immune system recognizes pathogen-associated molecular patterns, including bacterial polysaccharides such as muramyl dipeptide, via its pattern recognition receptors, such as NOD2, to induce signaling pathways that activate cytokine responses and protect the organism. In Blau syndrome, the genetic defect seems to lead to overactivation and poor control of the inflammatory response leading to widespread granulomatous inflammation and tissue d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muckle–Wells Syndrome
Muckle–Wells syndrome (MWS) is a rare autosomal dominant disease which causes sensorineural deafness and recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and joint pain. As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the protein cryopyrin. MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease—in fact, all three are related to mutations in the same gene and subsumed under the term cryopyrin-associated periodic syndromes (CAPS). Sign and symptoms * Sensorineural deafness * Recurrent urticaria (hives) * Fevers * Chills * Arthralgia (painful joints) Causes MWS occurs when a mutation in the ''CIAS1'' gene, encoding for NLRP3, leads to increased activity of the protein cryopyrin. This protein is partly responsible for the body's response to damage or infection. During these states, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Panniculitis
Panniculitis is a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin – panniculus adiposus). Symptoms include tender skin nodules, and systemic signs such as weight loss and fatigue. Restated, an inflammatory disorder primarily localized in the subcutaneous fat is termed a "panniculitis", a group of disorders that may be challenging both for the clinician and the dermatopathologist. The general term for inflammation of any adipose tissue is steatitis. Signs and symptoms Panniculitis can also be classified based on the presence or absence of systemic symptoms. Panniculitis without systemic disease can be a result of trauma or cold. Panniculitis with systemic disease can be caused by: * connective tissue disorders such as lupus erythematosus or scleroderma; * lymphoproliferative disease such as lymphoma or histiocytosis; * pancreatitis or pancreatic cancer; * sarcoidosis with cutaneous involvement (seen in up to 20 pe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sweet Syndrome
Sweet syndrome (SS), or acute febrile neutrophilic dermatosis, is a skin disease characterized by the sudden onset of fever, an elevated white blood cell count, and tender, red, well-demarcated papules and plaques that show dense infiltrates by neutrophil granulocytes on histologic examination. The syndrome was first described in 1964 by Robert Douglas Sweet. It was also known as Gomm–Button disease in honour of the first two patients Sweet diagnosed with the condition. Signs and symptoms Acute, tender, erythematous plaques, nodes, pseudovesicles and, occasionally, blisters with an annular or arciform pattern occur on the head, neck, legs, and arms, particularly the back of the hands and fingers. The trunk is rarely involved. Fever (50%); arthralgia or arthritis (62%); eye involvement, most frequently conjunctivitis or iridocyclitis (38%); and oral aphthae (13%) are associated features. Cause SS can be classified based upon the clinical setting in which it occurs: classica ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Interleukin 36 Receptor Antagonist
Interleukin 36 receptor antagonist (IL-36RA) is a member of the interleukin-36 family of cytokines. It was previously named Interleukin-1 family member 5 (IL1F5). The protein is known to inhibit the effects of Interleukin-36 cytokines ( IL-36α, IL-36β and IL-36γ) via competing with their receptor IL-36R/IL1RL2 and thereby inhibiting their proinflammatory effects. Roles in disease Mutations in the IL-36RN gene resulting in a decrease or production of defective IL-36RA protein have been shown to cause inflammatory skin diseases including generalised pustular psoriasis, acrodermatitis continua suppurativa Hallopeau (ACH) and acute generalized exanthematous pustulosis Acute generalized exanthematous pustulosis (AGEP) (also known as pustular drug eruption and toxic pustuloderma) is a rare skin reaction that in 90% of cases is related to medication administration. AGEP is characterized by sudden skin eruptions th ... (AGEP). References Further reading * * * * * * * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Deficiency Of The Interleukin-1–receptor Antagonist
Deficiency of the interleukin-1–receptor antagonist (DIRA) is an autosomal recessive, genetic autoinflammatory syndrome resulting from mutations in '' IL1RN'', the gene encoding the interleukin 1 receptor antagonist. The mutations result in an abnormal protein that is not secreted, exposing the cells to unopposed interleukin 1 activity. This results in sterile multifocal osteomyelitis, periostitis (inflammation of the membrane surrounding the bones), and pustulosis due to skin inflammation from birth. Symptoms and signs DIRA displays a constellation of serious symptoms which include respiratory distress, as well as the following: Cause Those affected with DIRA have inherited (via autosomal recessive manner) mutations in IL1RN, a gene that encodes a protein known as interleukin 1 receptor antagonist, The cytogenetic location of IL1RN is 2q14.1, while its 2:113,099,364-113,134,015 are the genomic coordinates. Mechanism The mechanism of ''deficiency of the interleukin-1–r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Crohn's Disease
Crohn's disease is a type of inflammatory bowel disease (IBD) that may affect any segment of the gastrointestinal tract. Symptoms often include abdominal pain, diarrhea (which may be bloody if inflammation is severe), fever, abdominal distension, and weight loss. Complications outside of the gastrointestinal tract may include anemia, skin rashes, arthritis, inflammation of the eye, and fatigue. The skin rashes may be due to infections as well as pyoderma gangrenosum or erythema nodosum. Bowel obstruction may occur as a complication of chronic inflammation, and those with the disease are at greater risk of colon cancer and small bowel cancer. While the precise causes of Crohn's disease (CD) are unknown, it is believed to be caused by a combination of environmental, immune, and bacterial factors in genetically susceptible individuals. It results in a chronic inflammatory disorder, in which the body's immune system defends the gastrointestinal tract, possibly targeting microbial ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
