Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; <i>PLCG2</i>): Striking clinical phenotypic overlap and difference
Necil Kütükçüler, Ezgi Topyıldız, Afig Berdeli, Burcu Guven Bilgin, Ayça Aykut, Asude Durmaz, Özgür Çoğulu, Guzide Aksu, Neslihan Edeer Karaca
Abstract
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 “ PLCG2 deficiency.”
Topics & Concepts
MedicinePhenotypeDiseaseGeneticsGeneMutationPathologyBiologyImmunodeficiency and Autoimmune DisordersDiabetes and associated disordersBlood disorders and treatments