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immunodeficiency with hyper IgM type 5
Summary
- Synonym
-
- HIGM5
- hyper-IgM syndrome 5
- hyper-IgM syndrome due to UNG deficiency
- hyper-IgM syndrome due to uracil N-glycosylase
- Definition
- A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.
- Super Class
- autosomal recessive disease hyper IgM syndrome
External Links
- Disease Ontology
- DOID:0060759
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002718 | Recurrent bacterial infections |
| HP:0003496 | Increased circulating IgM level |
| HP:0000031 | Epididymitis |
| HP:0011463 | Childhood onset |
| HP:0002721 | Immunodeficiency |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0004315 | Decreased circulating IgG level |
| HP:0002720 | Decreased circulating IgA level |
| HP:0200117 | Recurrent upper and lower respiratory tract infections |
| HP:0002716 | Lymphadenopathy |
