Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and difference.
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ABSTRACT:
SUBMITTER: Kutukculer N
PROVIDER: S-EPMC8077279 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
Publications
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; <i>PLCG2</i>): Striking clinical phenotypic overlap and difference.
Kutukculer Necil N Topyildiz Ezgi E Berdeli Afig A Guven Bilgin Burcu B Aykut Ayca A Durmaz Asude A Cogulu Ozgur O Aksu Guzide G Aksu Guzide G Edeer Karaca Neslihan N
Clinical case reports 20210302 4
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 <i>PLCG2</i> gene, so it may be better to define all of them as "<i>PLCG2</i>deficiency." ...[more]
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