Four Diseases, Plaid, Aplaid, Fcas3 And Cvid And One Gene (Phospholipase C, Gamma-2; Plcg2): Striking Clinical Phenotypic Overlap And Difference

Necil Kutukculer,Ezgi Topyildiz,Afig Berdeli,Burcu Guven Bilgin,Ayca Aykut,Asude Durmaz,Ozgur Cogulu,Guzide Aksu,Neslihan Edeer Karaca

CLINICAL CASE REPORTS（2021）

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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."

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关键词

APLAID, CVID, FCAS3, PLAID, PLCG2

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