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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2022.

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