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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

49 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Immune system disorder (140) Rheumatic disorder (80) Connective tissue disorder (67) Syndromic disease (24) Autoinflammatory syndrome (18) Human disease (14) Cryopyrin-associated periodic syndrome (8) Hereditary periodic fever syndrome (5)
Trials to join now! 24 Not yet recruiting 4 Not yet finished but already full! 6 Completed 15
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