The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS)
Saba Fekrvand, Samaneh Delavari, Zahra Chavoshzadeh, Roya Sherkat, Seyed Alireza Mahdaviani, Mahnaz Sadeghi‐Shabestari, Gholamreza Azizi, Mohammad Taghi Arzanian, Bibi Shahin Shamsian, Shabnam Eskandarzadeh, Narges Eslami, William Rae, Antônio Condino‐Neto, Javad Mohammadi, Hassan Abolhassani, Reza Yazdani, Asghar Aghamohammadi
Abstract
BACKGROUND: genes lead to APDS1 and APDS2, respectively. METHODS: Demographic, clinical, immunological and genetic data were collected from medical records of 15 pediatric patients, who were genetically identified using the whole-exome sequencing method. RESULTS: = .02) mainly due to chronic lung infections. CONCLUSION: Respiratory tract infections and humoral immunodeficiency are commonly the most important complication in pediatric APDS patients, and they can be fatal by ultimately causing catastrophic damage to the structure of lungs. Hence, physicians should be aware of its significance and further work-up of patients with recurrent respiratory tract infections especially in patients with lymphoproliferation. Moreover, delineation of genotype-phenotype associations with disease severity could be helpful in the timely application of appropriate management and patients' survival.