Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

MONDO:0013599

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is 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.

Also known as: immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, immunodeficiency type 31C, CANDF7, IMD31C, candidiasis familial chronic mucocutaneous, autosomal dominant, candidiasis familial, 7, candidiasis, familial chronic mucocutaneous, autosomal dominant, candidiasis, familial, 7

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