DISEASES

Disease-gene associations mined from literature

Human genes for X-linked hyper IgM syndrome

X-linked hyper IgM syndrome [DOID:6620]

A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene (300386) on chromosome Xq26.

Synonyms:  X-linked hyper IgM syndrome,  DOID:6620,  Xlinked hyper IgM syndrome,  X-linked hyper IgM disease,  X-linked hyper IgM disorder ...