Familial cold autoinflammatory syndrome 3
MONDO:0013766A 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.
Also known as: FACU, PLAID, PLCG2 familial cold autoinflammatory syndrome, familial atypical cold urticaria, familial cold autoinflammatory syndrome 3, familial cold autoinflammatory syndrome caused by mutation in PLCG2, familial cold autoinflammatory syndrome type 3, familial cold urticaria with common variable immunodeficiency
12 clinical trials for this condition and its sub-types, 0 tagged with Familial cold autoinflammatory syndrome 3 itself.
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