Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)

Open Access
Publisher Website
Google Scholar
Abstract
Clinical and laboratory findings of our patients have been previously reported.2 9 10 Briefly, patient 1, a boy, now 11 years old, was diagnosed as having autoimmune thyroiditis, autoimmune haemolytic anaemia, and autoimmune enteropathy at the age of 2 weeks, 2 months, and 5 months, respectively. Renal tubular dysfunction was also noted. His maternal uncle and his older brother had died of a similar diarrhoeal disease complicated by IDDM, suggesting X linked inheritance of the disease.2 He has been treated with a combination of tacrolimus (0.3 mg/day) and betamethasone (0.3-0.5 mg/day).9 Hypocalcaemia and hypokalaemia often develop in spite of supplementation with calcium, potassium, and vitamin D, which suggests renal damage resulting from either the underlying disease or a side effect of tacrolimus. In addition, he is suffering from osteoporosis associated with multiple compression fractures of the vertebral bodies and steroid induced cataract. He has failed to gain weight and height, although his diarrhoea has been fairly well controlled.