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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.
- 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]
- Subjects :
- PHOSPHOLIPASE C
PHENOTYPES
GENETIC mutation
GENES
Subjects
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