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Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference

Authors :
Necil Kutukculer
Ezgi Topyildiz
Afig Berdeli
Burcu Guven Bilgin
Ayca Aykut
Asude Durmaz
Ozgur Cogulu
Guzide Aksu
Neslihan Edeer Karaca
Source :
Clinical Case Reports, Vol 9, Iss 4, Pp 2023-2031 (2021)
Publication Year :
2021
Publisher :
Wiley, 2021.

Abstract

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.”

Details

Language :
English
ISSN :
20500904
Volume :
9
Issue :
4
Database :
Directory of Open Access Journals
Journal :
Clinical Case Reports
Publication Type :
Academic Journal
Accession number :
edsdoj.ba0b3403cfbd40dda11f638b3d0b7a7e
Document Type :
article
Full Text :
https://doi.org/10.1002/ccr3.3934