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common variable immunodeficiency
Summary
- Synonym
-
- CVID
- acquired agammaglobulinemia
- acquired hypogammaglobulinemia
- common variable agammaglobulinemia
- sporadic hypogammaglobulinemia
- Definition
- An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens.
- Super Class
- agammaglobulinemia autoimmune disease autosomal recessive disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 6382 | SDC1 | syndecan 1 | |
| 8809 | IL18R1 | interleukin 18 receptor 1 | |
| 23274 | CLEC16A | C-type lectin domain containing 16A | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 79661 | NEIL1 | nei like DNA glycosylase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q10981 | Galactoside alpha-(1,2)-fucosyltransferase 2 | |
| Q13231 | Chitotriosidase-1 | |
| Q13478 | Interleukin-18 receptor 1 | |
| Q14118 | Dystroglycan 1 | |
| Q15485 | Ficolin-2 | |
| Q2KHT3 | Protein CLEC16A |
