Conditions / Immune
immunodeficiency 31C
info · Immune
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.
Signs and symptoms
- Decreased anti-CD3/28-induced T-cell proliferation
- Immunodeficiency
- Impaired phytohemagglutinin-induced T lymphocyte transformation
- Severe Histoplasma capsulatum infection
- Osteopenia
- Villous atrophy
- Immune dysregulation
- Decreased total lymphocyte count
- Recurrent mucocutaneous candidiasis
- Recurrent respiratory infections
Also known as: CANDF7; IMD31C; autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome; autosomal dominant chronic mucocutaneous familial candidiasis; autosomal dominant immunodeficiency 31C