Article
The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS).
Immunological investigations - 1 Apr 2022
Fekrvand Saba, Delavari Samaneh, Chavoshzadeh Zahra, Sherkat Roya, Mahdaviani Seyed Alireza, Sadeghi Shabestari Mahnaz, Azizi Gholamreza, Arzanian Mohammad Taghi, Shahin Shamsian Bibi, Eskandarzadeh Shabnam, Eslami Narges, Rae William, Condino-Neto Antonio, Mohammadi Javad, Abolhassani Hassan, Yazdani Reza, Aghamohammadi Asghar
Abstract excerpt
BACKGROUND: Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently defined combined primary immunodeficiency disease (PID) characterized by recurrent respiratory tract infections, lymphoproliferation, autoimmunity and lymphoma. Gain-of-function mutations in PIK3CD and loss-of-function of PIK3R1 genes lead to APDS1 and APDS2, respectively. METHODS: Demographic, clinical, immunological and genetic data...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.