Four diseases PLAID APLAID FCAS3 and CVID and one gene (PHOSPHOLIPASE C GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference

摘要

We suggest PLAID, APLAID, and FCAS3 have to be considered as different aspects of the same underlying condition, because of our long‐term clinical and genetical experiences. Some CVID patients have the same disease‐causing mutations in PLCG2 gene, so it may be better to define all of them as “PLCG2deficiency.”