Splice site and de novo variants can cause PLCG2-associated immune dysregulation with cold urticaria (PLAID-CU)

Phospholipase Cγ2 (PLCγ2) is a crucial signaling molecule that receives and transmits indicators from varied cell floor receptors in most hematopoietic lineages. Variants of PLCG2 trigger PLCγ2-associated immune dysregulation (PLAID), a household of circumstances which can be categorized by mutational impact. PLAID with chilly urticaria (PLAID-CU) is brought on by in-frame deletions of PLCG2 which can be dominant detrimental at physiologic temperatures however turn into spontaneously energetic at sub-physiologic temperatures.

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