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Results 1 - 6 of 6 for Familial cold autoinflammatory syndrome 3
  1. ... dysregulation, PLCG2-associated FACU Familial atypical cold urticaria Familial cold autoinflammatory syndrome 3 Familial cold urticaria with common variable immunodeficiency FCAS3 ...
  2. ... and the same genetic cause. The group includes three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and ...
  3. ... skin rash, fever, and joint pain. CAPS include three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and ...
  4. ... Many of the NLRP12 gene variants that cause familial cold autoinflammatory syndrome type 2 are in a region of the gene known as exon 3. Most NLRP12 gene variants appear to reduce the ...
  5. ... cold urticaria National Organization for Rare Disorders (NORD) ... 2021 Apr;64(4):104168. doi: 10.1016/j.ejmg.2021.104168. Epub 2021 Mar 3. Citation on PubMed Del Porto F, Cifani N, ...
  6. ... with lipodystrophy and elevated temperature (CANDLE) syndrome. All three conditions are characterized by skin abnormalities and lipodystrophy. ...