Human genes for familial cold autoinflammatory syndrome
Familial cold autoinflammatory syndrome [DOID:0090061]
A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.
Synonyms: familial cold autoinflammatory syndrome, DOID:0090061, familial cold autoinflammatory disease, familial cold autoinflammatory disorder, hereditary cold autoinflammatory syndrome ...