Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever
HM Hoffman, AA Wanderer, DH Broide - Journal of Allergy and Clinical …, 2001 - Elsevier
Background: Familial cold autoinflammatory syndrome (FCAS), commonly known as familial
cold urticaria, is a rare autosomal dominant inflammatory disorder with episodic symptoms
precipitated by exposure to cold. Objective: The goal of this study was to formulate clinical
diagnostic criteria for FCAS in a large cohort in whom the diagnosis of FCAS was supported
by genetic linkage to chromosome 1q44. Methods: We assessed 45 affected and 68
unaffected members from 6 American families. DNA analysis was performed to confirm …
cold urticaria, is a rare autosomal dominant inflammatory disorder with episodic symptoms
precipitated by exposure to cold. Objective: The goal of this study was to formulate clinical
diagnostic criteria for FCAS in a large cohort in whom the diagnosis of FCAS was supported
by genetic linkage to chromosome 1q44. Methods: We assessed 45 affected and 68
unaffected members from 6 American families. DNA analysis was performed to confirm …
