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X-linked agammaglobulinemia
Summary
- Synonym
-
- BTK deficiency
- Bruton agammaglobulinemia tyrosine kinase deficiency
- Bruton disease
- Bruton's Sex-Linked Agammaglobulinemia
- Bruton's agammaglobulinaemia
- Bruton's type agammaglobulinemia
- Bruton-type agammaglobulinemia
- Definition
- An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.
- Super Class
- X-linked recessive disease agammaglobulinemia
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 929 | CD14 | CD14 molecule | |
| 2208 | FCER2 | Fc epsilon receptor II | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 2717 | GLA | galactosidase alpha | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
Related Glycoprotein
