immunodeficiency 31C

Term ID

DOID:0111946

Synonyms

• autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
• autosomal dominant chronic mucocutaneous familial candidiasis
• autosomal dominant immunodeficiency 31C
• CANDF7
• familial candidiasis 7
• IMD31C

Definition

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 the STAT1 gene on chromosome 2q32.2. (3)

References

• MIM:614162
• ORDO:391487

Ontology

Human Disease   ( DOID:0111946 )