autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
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.
MONDO:0000569
autoimmune disorder of endocrine system
is_a
MONDO:0015126
polyendocrinopathy
is_a
MONDO:0015279
chronic mucocutaneous candidiasis
is_a
MONDO:0019787
autoimmune enteropathy
is_a
CANDF7
related
IMD31C
related
candidiasis familial chronic mucocutaneous, autosomal dominant
related
candidiasis familial, 7
related
familial chronic mucocutaneous, autosomal dominant
related
immunodeficiency 31C
related
immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant
exact
immunodeficiency type 31C
exact