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

Necil Kutukculer; Ezgi Yilmaz; Afig Berdeli; Raziye Burcu Güven Bilgin; Ayca Aykut; Asude Durmaz; Ozgur Cogulu; Güzide Aksu; Neslihan Karaca

doi:10.22541/au.158955421.19202357

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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

Necil Kutukculer,
Ezgi Yilmaz,
Afig Berdeli,
Raziye Burcu Güven Bilgin,
Ayca Aykut,
Asude Durmaz,
Ozgur Cogulu,
Güzide Aksu,
Neslihan Karaca

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”.

12 May 2020Submitted to Clinical Case Reports

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15 May 2020Submission Checks Completed

15 May 2020Assigned to Editor

26 May 2020Reviewer(s) Assigned

08 Jul 2020Review(s) Completed, Editorial Evaluation Pending

08 Jul 2020Editorial Decision: Revise Minor

26 Oct 20201st Revision Received

17 Nov 2020Assigned to Editor

17 Nov 2020Submission Checks Completed

17 Nov 2020Review(s) Completed, Editorial Evaluation Pending

22 Nov 2020Reviewer(s) Assigned

13 Dec 2020Editorial Decision: Revise Minor

15 Dec 20202nd Revision Received

12 Jan 2021Assigned to Editor

12 Jan 2021Submission Checks Completed

12 Jan 2021Review(s) Completed, Editorial Evaluation Pending

21 Jan 2021Editorial Decision: Accept

Apr 2021Published in Clinical Case Reports volume 9 issue 4 on pages 2023-2031. 10.1002/ccr3.3934

Abstract

Peer review status:Published