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autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description 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.
Uniprot Description A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.
Mondo Term and Equivalent IDs
MONDO:0013599:  autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
GARD:0012314: 
Orphanet:391487: 
UMLS:C3279990: