familial cold autoinflammatory syndrome 3

Rare Disease

MONDO:0013766

Also Known As

FACUPLAIDPLCG2 familial cold autoinflammatory syndromefamilial atypical cold urticariafamilial cold autoinflammatory syndrome 3familial cold autoinflammatory syndrome caused by mutation in PLCG2familial cold autoinflammatory syndrome type 3familial cold urticaria with common variable immunodeficiencyplaidFCAS3PLCG2-associated antibody deficiency and immune dysregulationantibody deficiency and immune dysregulation, PLCG2-associated

Definition

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.