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

Clinical Case Reports

Ayca Aykut¹  Asude Durmaz¹  Ozgur Cogulu¹  Ezgi Topyildiz²  Burcu Guven Bilgin³  Guzide Aksu³  Necil Kutukculer³  Afig Berdeli³  Neslihan Edeer Karaca³ 

[1] Ege University Faculty of Medicine Department of Medical Genetics Izmir Turkey;Ege University Faculty of Medicine Department of Pediatric Allergy and Immunology Izmir Turkey;Ege University Faculty of Medicine Department of Pediatric Immunology and Rheumatology Izmir Turkey;

关键词: APLAID;    CVID;    FCAS3;    PLAID;    PLCG2;   

DOI  :  10.1002/ccr3.3934

来源: DOAJ

【 摘 要 】

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.”

【 授权许可】

Unknown