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Familial cold autoinflammatory syndrome 3

MONDO:0013766

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.

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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↑ Familial cold autoinflammatory syndrome (3)

Including sub-types (12) Tagged with Familial cold autoinflammatory syndrome 3 (0)

Trials to join now! 8 Not yet recruiting 2 Completed 2

Familial cold autoinflammatory syndrome 3

Where it sits in the disease tree

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