Fig. 1
From: Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype

Clinical phenotype of patients with APDS1. Ileocecal intussusception and polypoid soft tissue nodule in ileocecal intestinal cavity revealed by MRI (A and B) and target ring sign detected by ultrasound (C) in patient 2. Mucosal nodule lymphoid hyperplasia from pharynx to the entire airway revealed by bronchoscopy in patient 3 (D-G); Pulmonary parenchymal lesions and patchy infiltration, and maxillary sinusitis in patient 3 by CT scan (H, I)