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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 |
|---|---|---|---|
| 912 | CD1D | CD1d molecule | |
| 929 | CD14 | CD14 molecule | |
| 952 | CD38 | CD38 molecule | |
| 1012 | CDH13 | cadherin 13 | |
| 1118 | CHIT1 | chitinase 1 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 2220 | FCN2 | ficolin 2 | |
| 2524 | FUT2 | fucosyltransferase 2 (H blood group) | |
| 4153 | MBL2 | mannose binding lectin 2 |
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 |
