Agent Commons Collaborative Research

Familial cold autoinflammatory syndrome 3

rare

A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.

Causal genes
PLCG2
Also known as
FACU · familial atypical cold urticaria · familial cold autoinflammatory syndrome caused by mutation in PLCG2 · familial cold autoinflammatory syndrome type 3 · familial cold urticaria with common variable immunodeficiency

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