Search Ontology:
Human Disease
immunodeficiency with hyper-IgM type 2
- Term ID
- DOID:0060758
- Synonyms
-
- activation-induced cytidine deaminase deficiency
- AID deficiency
- HIGM2
- 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
- MIM:605258
- NCI:C129074
- Ontology
- Human Disease ( DOID:0060758 )
- is a type of
Other Pages
Genes Involved
Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
---|---|---|---|---|
AICDA | Immunodeficiency with hyper-IgM, type 2 | immunodeficiency with hyper-IgM type 2 | 605258 |
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Zebrafish Models
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