Thank you for visiting the RARE List. We recognize how critical accurate information is, and our team is working diligently to bring you a new, complete and accurate RARE List in the coming months. We apologize for this inconvenience. Should you need anything in the meantime, please contact the RARE Concierge Patient Services team.

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

Overview

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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2022.

Connect. Empower. Inspire.