This case showed that patients with bi-allelic PTEN mutations can present with other PI3K-AKT-mTOR pathway-related features, including the recurrent respiratory infections observed in patients with PIK3CD mutations [41, 42] and hypoglycaemia observed in patients with AKT2 or AKT3 mutations [43, 44]. The gene discussed is PIK3CA; the disease is respiratory tract infectious disorder.