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Results 1 - 5 of 5 for Familial cold autoinflammatory syndrome 4
  1. ... cold urticaria National Organization for Rare Disorders (NORD) ... Ugurlu S. A rare case of an NLRP12-associated autoinflammatory disease. Eur J Med Genet. 2021 Apr;64(4):104168. doi: 10.1016/j.ejmg.2021.104168. ...
  2. ... diseases. Curr Drug Targets Inflamm Allergy. 2005 Feb;4(1):77-80. doi: 10.2174/1568010053622957. Citation on PubMed Welzel T, Kuemmerle-Deschner JB. Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today? J Clin ...
  3. ... cause. The group includes three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and ... nephropathy with urticaria AND deafness Genetic Testing Registry: Familial cold autoinflammatory syndrome 1 ... Cryopyrin-associated periodic syndrome National Organization for ...
  4. ... dysregulation, PLCG2-associated FACU Familial atypical cold urticaria Familial cold autoinflammatory syndrome 3 Familial cold urticaria with common variable immunodeficiency ...
  5. ... the NLRP12 gene have been found to cause familial cold autoinflammatory syndrome type 2. This condition causes episodes of fever, ... Many of the NLRP12 gene variants that cause familial cold autoinflammatory syndrome type 2 are in a region of the ...