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
External Links
Disease Ontology
DOID:14179
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 9 entries
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
Displaying 1 entry
Gene ID Gene Symbol Description Source
18708 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
25513 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024