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hyper IgE recurrent infection syndrome 1
Summary
- Synonym
-
- Job syndrome
- Job's syndrome
- hyperimmunoglobulin E syndrome
- Definition
- A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
- Super Class
- autosomal dominant disease hyper IgE syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95394 | Phosphoacetylglucosamine mutase | |
| P05362 | Intercellular adhesion molecule 1 | |
| P35610 | Sterol O-acyltransferase 1 |
