Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
immunodeficiency 15A
Summary
- Synonym
-
- IMD15A
- Definition
- A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21.
- Super Class
- autosomal dominant disease combined T cell and B cell immunodeficiency
External Links
- Disease Ontology
- DOID:0111960
- UMLS
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14920 | Inhibitor of nuclear factor kappa-B kinase subunit beta |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O88351 | Inhibitor of nuclear factor kappa-B kinase subunit beta |
