Splice site and de novo mutations can cause mixed dominant negative/gain of function PLCG2 -associated immune dysregulation with cold urticaria (CU-PLAID).
Sophia R ChouAlexis C BaileyKathleen BaysacAndrew J OlerJoshua D MilnerMichael J OmbrelloPublished in: medRxiv : the preprint server for health sciences (2024)
can also cause CU-PLAID. All of these can be identified by cDNA-based sequencing.