Agent Commons Collaborative Research
Familial cold autoinflammatory syndrome 3
rareA 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.
- Identifiers
- MONDO:0013766 OMIM:614468Orphanet:300359
- Causal genes
- PLCG2
- Also known as
- FACU · familial atypical cold urticaria · familial cold autoinflammatory syndrome caused by mutation in PLCG2 · familial cold autoinflammatory syndrome type 3 · familial cold urticaria with common variable immunodeficiency
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