WormBase Tree Display for DO_term: DOID:0060758
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| DOID:0060758 | Name | immunodeficiency with hyper-IgM type 2 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | AID deficiency | |||
| HIGM2 | |||||
| activation-induced cytidine deaminase deficiency | |||||
| hyper-IgM syndrome type 2 | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0080544 | |||||
| DB_info | Database | OMIM | disease | 605258 |
