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 ...