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X-linked hyper IgM syndrome
Summary
- Synonym
-
- HIGM1
- X-linked hyper-IgM immunodeficiency
- XHIM
- hyper-IgM immunodeficiency syndrome type 1
- hyper-IgM syndrome 1
- hyper-IgM syndrome type 1
- immunodeficiency with hyper-IgM type 1
- Definition
- A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3.
- Super Class
- X-linked recessive disease hyper IgM syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06734 | Low affinity immunoglobulin epsilon Fc receptor | |
| P22897 | Macrophage mannose receptor 1 | |
| P36222 | Chitinase-3-like protein 1 |
