Term Name: immunodeficiency with hyper-IgM type 2
Synonyms: activation-induced cytidine deaminase deficiency, AID deficiency, HIGM2, hyper-IgM syndrome type 2
Definition: A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.
Ontology: Human Disease [DOID:0060758]   ( DOID:0060758 )

Relationships
is a type of: autosomal recessive disease hyper IgM syndrome