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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
MHC class II deficiency
Summary
- Synonym
-
- BLSII
- SCID due to absent class II HLA antigens
- bare lymphocyte syndrome type II
- Definition
- A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes.
- Super Class
- severe combined immunodeficiency
External Links
- Disease Ontology
- DOID:5812
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 8050 | PDHX | pyruvate dehydrogenase complex component X | |
| 8809 | IL18R1 | interleukin 18 receptor 1 | |
| 10855 | HPSE | heparanase | |
| 23600 | AMACR | alpha-methylacyl-CoA racemase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13478 | Interleukin-18 receptor 1 | |
| Q14002 | Carcinoembryonic antigen-related cell adhesion molecule 7 | |
| Q9Y251 | Heparanase |
