familial cold autoinflammatory syndrome 3
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.
MONDO:0005492
urticaria
excluded_subClassOf
MONDO:0018768
familial cold autoinflammatory syndrome
is_a
FACU
exact
FCAS3
related
PLAID
exact
PLCG2 familial cold autoinflammatory syndrome
exact
familial atypical cold urticaria
exact
familial cold autoinflammatory syndrome 3
exact
familial cold autoinflammatory syndrome caused by mutation in PLCG2
exact
familial cold autoinflammatory syndrome type 3
exact
familial cold urticaria with common variable immunodeficiency
exact
plaid
exact
SPAC22F8.11