loading page

Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2 ) : striking clinical phenotypic overlap and difference
  • +6
  • Necil Kutukculer,
  • Ezgi Yilmaz,
  • Afig Berdeli,
  • Raziye Burcu Güven Bilgin,
  • Ayca Aykut,
  • Asude Durmaz,
  • Ozgur Cogulu,
  • Güzide Aksu,
  • Neslihan Karaca
Necil Kutukculer
Ege University Faculty of Medicine
Author Profile
Ezgi Yilmaz
Ege University Faculty of Medicine
Author Profile
Afig Berdeli
Ege University Faculty of Medicine
Author Profile
Raziye Burcu Güven Bilgin
Ege University Faculty of Medicine
Author Profile
Ayca Aykut
Ege University Faculty of Medicine
Author Profile
Asude Durmaz
Ege University Faculty of Medicine
Author Profile
Ozgur Cogulu
Ege University Faculty of Medicine
Author Profile
Güzide Aksu
Ege University Faculty of Medicine
Author Profile
Neslihan Karaca
Ege University Faculty of Medicine
Author Profile

Abstract

We suggest PLAID,APLAID and FCAS3 have to be considered as same diseases,because of our long-term clinical experiences and genetic results in six patients.Small proportion of CVID patients are also PLAID/APLAID/FCAS3 patients and all these have disease-causing-mutations in PLCG2-genes,so it may be better to define all of them as “PLCG2 deficiency”.

Peer review status:UNDER REVIEW

12 May 2020Submitted to Clinical Case Reports
15 May 2020Assigned to Editor
15 May 2020Submission Checks Completed
26 May 2020Reviewer(s) Assigned
08 Jul 2020Review(s) Completed, Editorial Evaluation Pending