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PLCG2 variants in cherubism

Cherubism is mostly brought on by uncommon heterozygous gain-of-function (GOF) missense variants in SH3BP2, which seem to sign by means of Phospholipase C Gamma 2 (PLCG2) to trigger extreme osteoclast exercise resulting in expansile lesions in facial bones in childhood. GOF variants in PLCG2 result in autoinflammatory PLCG2-associated antibody deficiency and immune dysregulation (autoinflammatory PLAID, or PLAID-GOF), characterised by variably penetrant autoinflammatory, autoimmune, infectious, and atopic manifestations.

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