OBO ID: DOID:0060758
Term Name: immunodeficiency with hyper-IgM type 2 Search Ontology:
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. https://www.ncbi.nlm.nih.gov/pubmed/11007475
References:
Ontology: Human Disease   (DOID:0060758)
OTHER immunodeficiency with hyper-IgM type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AICDA Immunodeficiency with hyper-IgM, type 2 605258
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None