Case report on activated PI3K-delta syndrome

• প্রধান লেখক: Israel E. Crisanto-López (লেখক), Alan A. Pérez-Arzola (লেখক), Yazmin Hernández-Castañeda (লেখক), Reyna G. Carrasco-Trinidad (লেখক), Aurea Vera-Loaiza (লেখক), Berenice Jiménez-Pérez (লেখক), Tania A. Guzmán-Santiago (লেখক), Pablo O. Rodríguez-Hurtado (লেখক), Wilbert Salazar-Bonilla (লেখক), Daniela Juárez-Melchor (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Permanyer, 2024-10-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...