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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
  • +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
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Ezgi Yilmaz
Ege University Faculty of Medicine
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Afig Berdeli
Ege University Faculty of Medicine
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Raziye Burcu Güven Bilgin
Ege University Faculty of Medicine
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Ayca Aykut
Ege University Faculty of Medicine
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Asude Durmaz
Ege University Faculty of Medicine
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Ozgur Cogulu
Ege University Faculty of Medicine
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Güzide Aksu
Ege University Faculty of Medicine
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Neslihan Karaca
Ege University Faculty of Medicine
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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:Published

12 May 2020Submitted to Clinical Case Reports
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