immunodeficiency with hyper-IgM type 2

Term ID

DOID:0060758

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

• GARD:10578
• NCI:C129074
• OMIM:605258
• ORDO:101089
• UMLS_CUI:C1720956

Ontology

Human Disease   ( DOID:0060758 )