Autosomal dominant candidiasis familial chronic mucocutaneous

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

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.

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Last updated: 4/1/2016

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