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

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 “PLCG2d...

Full description

Saved in:
Bibliographic Details
Published in:Clinical case reports 2021-04, Vol.9 (4), p.2023-2031
Main Authors: Kutukculer, Necil, Topyildiz, Ezgi, Berdeli, Afig, Guven Bilgin, Burcu, Aykut, Ayca, Durmaz, Asude, Cogulu, Ozgur, Aksu, Guzide, Edeer Karaca, Neslihan
Format: Article
Language:English
Subjects:
Abdomen
Antibodies
APLAID
Bronchitis
Case Report
Case Reports
CVID
Ear diseases
Erythema
FCAS3
Genes
Immunoglobulins
Immunology
Laboratories
Lymphocytes
Mutation
Patients
PLAID
PLCG2
Skin
Streptococcus infections
Tetanus
Ultrasonic imaging
Urticaria
Vaccines
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.” Germline mutations in PLCG2 gene cause PLAID, APLAID, FCAS3, and CVID. Clinical experiences in patients with PLCG2 mutations led us to consider that they are different aspects of the same underlying condition.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.3934