Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome


Engelsk navn: Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome


Definisjon

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.

Fra Orphanet

ORPHA: 391487
Klassifiseringsnivå: Disorder
ICD-10: K63.9

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Mer informasjon

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