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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06187 | Tyrosine-protein kinase BTK |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P26450 | Phosphatidylinositol 3-kinase regulatory subunit alpha | |
| P35991 | Tyrosine-protein kinase BTK |
