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Scientists from the USA National Institutes of Health have identified a genetic mutation in three unrelated families that causes a rare immune disorder characterized by excessive and impaired immune function: immune deficiency, autoimmunity, inflammatory skin disorders and cold-induced hives (cold urticaria). "The mutation discovered occurs in ...
Cryopyrin-associated periodic syndromes are associated with a gain-of-function missense mutation in exon 3 of NLRP3, the gene encoding cryopyrin, a major component of the interleukin 1 inflammasome. [2] [6] In keratoendotheliitis fugax hereditaria, the mutation occurs in exon 1. [3]
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).
The syndrome is caused by mutations in the phospholipase C gamma 2 gene. [4] [5] This gene is located on the long arm of chromosome 16 (16q23.3). [6] The pathogenesis of this condition is not understood. It is however known that phospholipase C gamma is an important signalling mediation for natural killer cells. [7]
About Chronic Spontaneous Urticaria (CSU) CSU is a chronic inflammatory skin disease driven in part by type 2 inflammation, which causes sudden and debilitating hives and recurring itch. CSU is typically treated with H1 antihistamines, medicines that target H1 receptors on cells to control symptoms of urticaria.
The disease is caused in 60% of cases by a mutated gene called CIAS1 that is known to be involved in other syndromes that appear somewhat similar, such as Muckle–Wells syndrome and familial cold urticaria. In many patients, the parents do not have the same mutation, indicating the problem was not inherited, even though it is a genetic disease.
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Image credits: anon #6. Being born with only one ear and a few other issues with my face. Potential diagnosis of mild Goldenhar's. I thought it was the best thing ever and totally normal until I ...