Case report on activated PI3K-delta syndrome

• Main Authors: Israel E. Crisanto-López (Author), Alan A. Pérez-Arzola (Author), Yazmin Hernández-Castañeda (Author), Reyna G. Carrasco-Trinidad (Author), Aurea Vera-Loaiza (Author), Berenice Jiménez-Pérez (Author), Tania A. Guzmán-Santiago (Author), Pablo O. Rodríguez-Hurtado (Author), Wilbert Salazar-Bonilla (Author), Daniela Juárez-Melchor (Author)
• Format: Book
• Published: Permanyer, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Activated phosphoinositide 3-kinase delta syndrome (APDS) [OMIM 615513] is an inborn error of immunity with autosomal dominant inheritance caused by a pathogenic variant in the PIK3CD gene. The prevalence ratio of APDS is < 1: 1,000,000 newborns. The main clinical features of APDS are...