Conditions / Immune
immunodeficiency 47
info · Immune
A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28.
Signs and symptoms
- Cholestasis
- Hypotonia
- Type II transferrin isoform profile
- Elevated circulating alanine aminotransferase concentration
- Abnormal protein N-linked glycosylation
- Failure to thrive
- Recurrent bacterial infections
- Arachnoid cyst
- Accessory spleen
- Elevated circulating hepatic transaminase concentration
Also known as: CDG IIs; CDG2S; CDGIIs; IMD47; congenital disorder of glycosylation type IIs