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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 :
Kutukculer, Necil
Topyildiz, Ezgi
Berdeli, Afig
Guven Bilgin, Burcu
Aykut, Ayca
Durmaz, Asude
Cogulu, Ozgur
Aksu, Guzide
Edeer Karaca, Neslihan
Source :
Clinical Case Reports; Apr2021, Vol. 9 Issue 4, p2023-2031, 9p
Publication Year :
2021

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." [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
20500904
Volume :
9
Issue :
4
Database :
Complementary Index
Journal :
Clinical Case Reports
Publication Type :
Academic Journal
Accession number :
150026069
Full Text :
https://doi.org/10.1002/ccr3.3934