Human genes for immunodeficiency 31C
Immunodeficiency 31C [DOID:0111946]
A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in STAT1 on chromosome 2q32.2.
Synonyms: immunodeficiency 31C, DOID:0111946, autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome, autosomal dominant chronic mucocutaneous familial candidiasis, autosomal dominant immunodeficiency 31C ...