Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference
Articles > Article · 2021
Authors: Necil KÜTÜKÇÜLER, Ezgi TOPYILDIZ, Afig BERDELİ, Ayça AYKUT, Asude DURMAZ, Muhsin Özgür ÇOĞULU, Güzide AKSU, Neslihan KARACA
Clinical Case Reports, Journal Indexed in SCI Expanded, International, Scopus, 2021, vol 9, pp 2023-2031
DOI: 10.1002/ccr3.3934
Summary
Abstract 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.”