Autosomal dominant candidiasis familial chronic mucocutaneous

CANDF7, Candidiasis Familial, 7


Type of disease: Rare Condition or Disease

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.

Connect. Empower. Inspire.