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

Necil Kutukculer; Ezgi Topyildiz; Afig Berdeli; Burcu Guven Bilgin; Ayca Aykut; Asude Durmaz; Ozgur Cogulu; Guzide Aksu; Neslihan Edeer Karaca

doi:10.1002/ccr3.3934

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

Clin Case Rep. 2021 Mar 2;9(4):2023-2031. doi: 10.1002/ccr3.3934. eCollection 2021 Apr.

Authors

Necil Kutukculer¹, Ezgi Topyildiz², Afig Berdeli¹, Burcu Guven Bilgin¹, Ayca Aykut³, Asude Durmaz³, Ozgur Cogulu³, Guzide Aksu¹, Neslihan Edeer Karaca¹

Affiliations

¹ Ege University Faculty of Medicine Department of Pediatric Immunology and Rheumatology Izmir Turkey.
² Ege University Faculty of Medicine Department of Pediatric Allergy and Immunology Izmir Turkey.
³ Ege University Faculty of Medicine Department of Medical Genetics Izmir Turkey.

Abstract

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."

Keywords: APLAID; CVID; FCAS3; PLAID; PLCG2.

Publication types

Case Reports