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...

Descripción completa

Detalles Bibliográficos
Autores principales: Kutukculer, Necil, Topyildiz, Ezgi, Berdeli, Afig, Guven Bilgin, Burcu, Aykut, Ayca, Durmaz, Asude, Cogulu, Ozgur, Aksu, Guzide, Edeer Karaca, Neslihan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077279/
https://www.ncbi.nlm.nih.gov/pubmed/33936634
http://dx.doi.org/10.1002/ccr3.3934
_version_ 1783684850218172416
author Kutukculer, Necil
Topyildiz, Ezgi
Berdeli, Afig
Guven Bilgin, Burcu
Aykut, Ayca
Durmaz, Asude
Cogulu, Ozgur
Aksu, Guzide
Edeer Karaca, Neslihan
author_facet Kutukculer, Necil
Topyildiz, Ezgi
Berdeli, Afig
Guven Bilgin, Burcu
Aykut, Ayca
Durmaz, Asude
Cogulu, Ozgur
Aksu, Guzide
Edeer Karaca, Neslihan
author_sort Kutukculer, Necil
collection PubMed
description 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.”
format Online
Article
Text
id pubmed-8077279
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-80772792021-04-29 Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference Kutukculer, Necil Topyildiz, Ezgi Berdeli, Afig Guven Bilgin, Burcu Aykut, Ayca Durmaz, Asude Cogulu, Ozgur Aksu, Guzide Edeer Karaca, Neslihan Clin Case Rep Case Reports 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.” John Wiley and Sons Inc. 2021-03-02 /pmc/articles/PMC8077279/ /pubmed/33936634 http://dx.doi.org/10.1002/ccr3.3934 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Kutukculer, Necil
Topyildiz, Ezgi
Berdeli, Afig
Guven Bilgin, Burcu
Aykut, Ayca
Durmaz, Asude
Cogulu, Ozgur
Aksu, Guzide
Edeer Karaca, Neslihan
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference
title Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference
title_full Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference
title_fullStr Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference
title_full_unstemmed Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference
title_short Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference
title_sort four diseases, plaid, aplaid, fcas3 and cvid and one gene (phospholipase c, gamma‐2; plcg2): striking clinical phenotypic overlap and difference
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077279/
https://www.ncbi.nlm.nih.gov/pubmed/33936634
http://dx.doi.org/10.1002/ccr3.3934
work_keys_str_mv AT kutukculernecil fourdiseasesplaidaplaidfcas3andcvidandonegenephospholipasecgamma2plcg2strikingclinicalphenotypicoverlapanddifference
AT topyildizezgi fourdiseasesplaidaplaidfcas3andcvidandonegenephospholipasecgamma2plcg2strikingclinicalphenotypicoverlapanddifference
AT berdeliafig fourdiseasesplaidaplaidfcas3andcvidandonegenephospholipasecgamma2plcg2strikingclinicalphenotypicoverlapanddifference
AT guvenbilginburcu fourdiseasesplaidaplaidfcas3andcvidandonegenephospholipasecgamma2plcg2strikingclinicalphenotypicoverlapanddifference
AT aykutayca fourdiseasesplaidaplaidfcas3andcvidandonegenephospholipasecgamma2plcg2strikingclinicalphenotypicoverlapanddifference
AT durmazasude fourdiseasesplaidaplaidfcas3andcvidandonegenephospholipasecgamma2plcg2strikingclinicalphenotypicoverlapanddifference
AT coguluozgur fourdiseasesplaidaplaidfcas3andcvidandonegenephospholipasecgamma2plcg2strikingclinicalphenotypicoverlapanddifference
AT aksuguzide fourdiseasesplaidaplaidfcas3andcvidandonegenephospholipasecgamma2plcg2strikingclinicalphenotypicoverlapanddifference
AT edeerkaracaneslihan fourdiseasesplaidaplaidfcas3andcvidandonegenephospholipasecgamma2plcg2strikingclinicalphenotypicoverlapanddifference

Ejemplares similares