Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and difference.
Necil KütükçülerEzgi TopyildizAfig BerdeliBurcu GuvenAyça AykutAsude Alpman DurmazOzgur CoguluGuzide AksuNeslihan Edeer KaracaPublished in: Clinical case reports (2021)
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."