Human genes for immunodeficiency 47
Immunodeficiency 47 [DOID:0112002]
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 ATP6AP1 on chromosome Xq28.
Synonyms: immunodeficiency 47, DOID:0112002, CDG2S, CDG IIs, CDGIIs ...