Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042109 (urticaria)
 6,569 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant inherited condition of periodic fever and pain. Most patients are of northern European descent. The attacks manifest as fever and pain in the joints, abdomen, muscles, skin, or eyes, with variations across patients. An acute-phase response occurs during the attacks. Patients with TRAPS are at risk for AA amyloidosis, the most common targets being the kidneys and liver. Soluble TNFRSF1A is usually low between the attacks and may be normal during the attacks, when TNF levels are high. TNFRSF1A is found in abnormally high numbers on leukocyte cell membranes. TRAPS is the first condition for which naturally occurring mutations in a TNF receptor were found; the mutations affect the soluble TNFRSF1A gene in the 12p13 region. In some patients, the pathogenesis involves defective TNFRSF1A shedding from cell membranes in response to a given stimulus. Thus, TRAPS is a model for a novel pathogenic concept characterized by failure to shed a cytokine receptor. This review compares TRAPS to other inherited periodic febrile conditions, namely, familial Mediterranean fever, Muckle-Wells syndrome, cold urticaria, and hyper-IgD syndrome. The place of TRAPS relative to other intermittent systemic joint diseases is discussed. Colchicine neither relieves nor prevents the attacks, whereas oral glucocorticoid therapy is effective when used in dosages greater than 20 mg/day. The pathogenic hypothesis involving defective TNFRSF1A shedding suggests that medications targeting TNF may be effective in TRAPS.
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PMID:Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases. 1528 52

Hereditary periodic fever syndromes are a group of systemic disorders characterized by recurrent attacks of systemic inflammation (autoinflammation) without infectious or autoimmune cause. The hyper-IgD syndrome (HIDS) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, arthralgias/arthritis, abdominal complaints, skin rash, and headache). The attacks persist during the entire life although frequency and severity tend to diminish with age. HIDS is caused by specific mutations in the gene encoding mevalonate kinase, resulting in depressed enzymatic activity. At present the therapy for the syndrome is only supportive. Other than HIDS, other hereditary systemic inflammatory disorders have been described: the Familial Mediterranean Fever, the tumour necrosis factor receptor associated periodic syndrome (TRAPS), a disease related to the mutations of one of the TNF receptors, the Familial Cold Urticaria and the Muckle-Wells syndrome. The differential diagnosis with other causes of periodic fever is crucial for assessing appropriate management and treatment.
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PMID:[Hyper-IgD syndrome and other hereditary periodic fever syndromes]. 1547 May 20

Among hereditary inflammatory disorders, Muckle-Wells syndrome, chronic infantile neurological cutaneous and articular syndrome (CINCA), and familial cold urticaria have recently been shown to be caused by dominantly inherited mutations in the CIAS1 gene. Reports suggest that these 3 diseases result from distinct missense mutations, with very few overlapping symptoms. We describe a French family presenting an intrafamilial overlapping clinical phenotype of CINCA and Muckle-Wells syndrome, caused by a mutation in CIAS1 gene. Clinical and genetic observations suggest that Muckle-Wells syndrome, CINCA, and familial cold urticaria are various phenotypic expressions of the same disease.
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PMID:Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome. 1580 Oct 36

The "self-inflammatory syndrome" gathers diseases all characterized by a recurrent inflammatory syndrome with fever, in the absence of infection or neoplasia. It is based on a genetic support characterized by mutations in genes implied in the inflammatory response and in the activation of the cytokine network. The diseases associated with this syndrome are familial Mediterranean fever (FMF), TRAPS (tumor necrosis factor receptor super family 1 A-associated periodic syndrome), familial cold urticaria, the Muckle-Wells syndrome, the hyper IgD syndrome and CINCA. The clinical symptoms of all these diseases include in the auto-inflammatory syndrome are quite similar: recurrent attacks, with fever, articular, abdominal, cutaneous symptoms, and an inflammatory syndrome.
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PMID:[The "self-inflammatory syndrome"]. 1601 57

Muckle-Wells syndrome (MWS) is a rare syndrome, characterized by chronic recurrent urticaria, often combined with fever, chills, rigors, malaise, and arthralgia. Progressive sensorineural deafness, and, in approximately one third of the patients, amyloidosis of the kidneys as well as of other organs may occur. It was first described in 1962 by Muckle and Wells. Herein we describe six cases of MWS showing, in addition to the classic features of MWS, unique skin lesions that to the best of our knowledge have not been described before in association with MWS.
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PMID:Muckle-Wells syndrome: report of six cases with hyperpigmented sclerodermoid skin lesions. 1653 22

Muckle-Wells syndrome is a rare autosomally dominant disorder belonging to the group of periodic fever syndromes. Three main features of the disease are: (i) urticarial eruptions; (ii) progressive perceptive deafness; and (iii) amyloid nephropathy. A 26-year-old Japanese woman had suffered at birth from an urticarial rash and episodic fever. The fever was frequently associated with chills and ill-defined malaise. There was no familial history of urticarial rash or fever. Although she did not recognize hearing loss, audiometry revealed perceptive deafness. She also had hepatosplenomegaly and hyperimmunoglobulinemia, but did not have persistent arthritis, or any neurological or gastrointestinal disorder. No growth retardation was observed. Skin biopsy specimens from her buttock showed a sparse perivascular and interstitial infiltrate of neutrophils in the papillary dermis. Periodic fever syndrome was diagnosed. Muckle-Wells syndrome was most likely, although no amyloid nephropathy was observed and no gene mutations of CIAS1 (T785C, C778T, G907A, G1315A, G1075C) were detected. We treated her with prednisolone, which had a partial effect. Previous treatment with colchicines, antihistamines, dapsone, clarithromycin, minocycline hydrochloride and loxoprofen sodium had been unsuccessful. Muckle-Wells syndrome may go undiagnosed for many years or be misdiagnosed as refractory urticaria. Therefore, we should consider the possibility of periodic fever syndrome when we see patients with refractory urticaria and episodic fever.
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PMID:A probable case of Muckle-Wells syndrome. 1655 80

A 41-year-old patient was referred to our rheumatology ward due to a long history of urticaria, joint pain and fever. These symptoms appeared during the evening and then resolved during the night. Extensive testing in the past failed to provide a diagnosis and treatment with high-dose corticosteroids, methotrexate and colchicine was ineffective. Based on clinical criteria, including bilateral sensorineural hearing loss, we diagnosed Muckle-Wells syndrome, a rare auto-inflammatory disease considered one of the hereditary periodic fever syndromes and caused by a mutation in the CIAS1 gene. There was a remarkable response to anakinra, an interleukin-1 receptor antagonist. The favourable results suggest that interleukin-1 plays an important role in the development of this syndrome.
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PMID:[Muckle-Wells syndrome: a rare periodic fever syndrome]. 1690 Oct 68

Familial cold auto-inflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurologic, cutaneous, articular syndrome are related disorders associated with mutations in the CIAS1 gene. They appear to represent a continuum of one disease characterized by IL-1-mediated inflammation. Until recently, these conditions have been difficult to treat; however, with the advent of IL-1-receptor antagonist therapy, many reports of successful treatment of patients with these autoinflammatory diseases have emerged in the past 2 years. We describe an 8-year-old girl, diagnosed with Familial cold auto-inflammatory syndrome, confirmed by presence of a novel CIAS1 mutation, who was refractory to symptomatic treatment. As frequent attacks of urticaria and associated arthralgia had a debilitating effect on the child's lifestyle, a trial of IL-1-receptor antagonist (anakinra) was instituted. Dramatic sustained clinical improvement was evident within days and serum amyloid and C-reactive protein levels normalized within a month. Although several authors have reported successful use of this agent in children with chronic infantile neurologic, cutaneous, articular syndrome, we believe ours is the first report of successful treatment with anakinra in a young child with familial cold auto-inflammatory syndrome.
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PMID:Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. 1730 Jun 60

NOD-like receptors are cytosolic proteins that contain a central nucleotide-binding oligomerization domain (NACHT), an N-terminal effector-binding domain and C-terminal leucine-rich repeats (LRRs). NOD-like receptors have been implicated as ancient cellular sentinels mediating protective immune responses against intracellular pathogens. Recent studies have described the genetic association of polymorphisms in NOD-like receptor genes with complex chronic inflammatory barrier diseases, such as Crohn's disease and asthma and with rare auto-inflammatory syndromes including familial cold urticaria, Muckle-Wells syndrome and Blau syndrome. Whereas genetic variability in NLRs may have been an important element to provide plasticity to antigen recognition and host defense in the past, recent changes in the lifestyle of industrialized societies (e.g. hygiene ("cold-chain-hypothesis"), nutrition, or antibiotics) may have turned ancient genetic variability into disease-causing mutations. The review focuses on NLR function in the molecular pathophysiology of human inflammatory disorders.
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PMID:NOD-like receptors and human diseases. 1737 27

Muckle-Wells syndrome (MWS) is a subset of autoinflammatory diseases. It is characterized by recurrent inflammatory crises associated with fever, abdominal pain, persistent urticaria, arthralgia, sensorineural deafness, and possible development of multiorgan amyloid A protein (AA)-type amyloidosis. Mutations in the CIAS1 gene have been reported in MWS. Interleukin 1B (IL-1B) probably plays a major role in the pathophysiology of the disease, and IL-1B blockade may be therapeutic for this syndrome. We report here a Turkish child with MWS treated with anakinra. A novel mutation (I480F) was identified in exon 3 of the CIAS1 gene in this patient. The resolution of inflammatory symptoms, normalization of serological values, and improvement in hearing was noted with anakinra treatment.
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PMID:A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra. 1748 72


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