has material basis in germline mutation in STAT1 autoimmune disorder of endocrine system autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/immunodeficiency_31c DOID:0111946 immunodeficiency type 31C immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant familial chronic mucocutaneous, autosomal dominant Orphanet:391487 candidiasis familial, 7 OMIM:614162 GARD:0012314 MONDO:0013599 CANDF7 candidiasis familial chronic mucocutaneous, autosomal dominant IMD31C UMLS:C3279990 MEDGEN:481620 immunodeficiency 31C 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. polyendocrinopathy chronic mucocutaneous candidiasis autoimmune enteropathy