Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
An extremely rare autosomal dominant immunological disorder characterized by variable enteropathy endocrine disorders (e.g. type 1 diabetes mellitus hypothyroidism) immune dysregulation with pulmonary and blood-borne bacterial infections and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature eczema hepatosplenomegaly delayed puberty and osteoporosis/osteopenia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2022.