/autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

Rare Disease

MONDO:0013599

Also Known As

immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominantimmunodeficiency type 31CCANDF7IMD31Ccandidiasis familial chronic mucocutaneous, autosomal dominantcandidiasis familial, 7candidiasis, familial chronic mucocutaneous, autosomal dominantcandidiasis, familial, 7familial chronic mucocutaneous, autosomal dominantimmunodeficiency 31C

Definition

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.