Open AccessFour diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2 ): Striking clinical phenotypic overlap and difference
Author(s) -
Kutukculer Necil,
Topyildiz Ezgi,
Berdeli Afig,
Guven Bilgin Burcu,
Aykut Ayca,
Durmaz Asude,
Cogulu Ozgur,
Aksu Guzide,
Edeer Karaca Neslihan
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3934
Subject(s) - medicine , phenotype , disease , genetics , gene , mutation , pathology , biology
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 “ PLCG2 deficiency.”