immunodeficiency 47 (DOID:0112002)
Alliance: disease page
Synonyms: CDG2S; CDG IIs; CDGIIs; congenital disorder of glycosylation type IIs; IMD47; immunodeficiency and hepatopathy with or without neurologic features
Alt IDs: OMIM:300972, UMLS_CUI:C4310819
Definition: 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.