Huazhong University of Science and Technology Reports Findings in Pediatric Rheumatology (Activated phosphoinositide 3-kinase d syndrome caused by PIK3CD mutations: expanding the phenotype).

A report from Huazhong University of Science and Technology in Wuhan, China, discusses the findings of a study on activated phosphoinositide 3-kinase (PI3K) d syndrome type 1 (APDS1), a rare primary immunodeficiency disease caused by mutations in the PIK3CD gene. The study identified three patients with different clinical presentations but harboring pathogenic variants in the PIK3CD gene. The research expands the understanding of the clinical phenotype and genotype of APDS and highlights the effectiveness of whole exome sequencing (WES) as a diagnostic tool for patients with immunodeficiency-related symptoms. [Extracted from the article]