Term Name: X-linked hyper IgM syndrome
Synonyms: HIGM1, hyper-IgM immunodeficiency syndrome type 1, hyper-IgM syndrome 1, hyper-IgM syndrome type 1, hyperimmunoglobulin M syndrome, immunodeficiency with hyper-IgM type 1, X-linked hyper-IgM immunodeficiency, XHIM
Definition: 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 on chromosome Xq26.3.
Ontology: Human Disease [DOID:6620]   ( DOID:6620 )

Relationships
is a type of: hyper IgM syndrome X-linked recessive disease