familial cold autoinflammatory syndrome type 3

familial cold autoinflammatory syndrome type 3

An autosomal dominant immune disorder (OMIM:614468) characterised by the development of urticaria, erythema and pruritis in response to cold temperatures, variably accompanied by antibody deficiency, reduced B cells, defective B cells, increased susceptibility to infection and increased risk of autoimmune disorders.

Molecular pathology
Defects in PLCG2, which encodes a phospholipase, cause familial cold autoinflammatory syndrome type 3.
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