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Familial cold autoinflammatory syndrome 3
- ... dysregulation, PLCG2-associated FACU Familial atypical cold urticaria Familial cold autoinflammatory syndrome 3 Familial cold urticaria with common variable immunodeficiency FCAS3 ...
- ... and the same genetic cause. The group includes three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and ...
- ... skin rash, fever, and joint pain. CAPS include three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and ...
- ... 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 ...
- ... 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, ...
- ... with lipodystrophy and elevated temperature (CANDLE) syndrome. All three conditions are characterized by skin abnormalities and lipodystrophy. ...