Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
primary immunodeficiency disease |
| gptkbp:affects |
males almost exclusively
|
| gptkbp:affectsImmuneSystemComponent |
gptkb:B_lymphocytes
|
| gptkbp:alsoKnownAs |
gptkb:Bruton_agammaglobulinemia
|
| gptkbp:characterizedBy |
absence of mature B cells
very low levels of immunoglobulins |
| gptkbp:complication |
autoimmune disorders
chronic lung disease enteroviral infections |
| gptkbp:diagnosedBy |
flow cytometry for B cells
genetic testing for BTK mutation low immunoglobulin levels |
| gptkbp:firstDescribed |
gptkb:Ogden_Bruton
1952 |
| gptkbp:hasOrphanetID |
ORPHA:52
|
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked agammaglobulinemia
|
| gptkbp:ICD-10_code |
D80.0
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:MeSH_ID |
D001684
|
| gptkbp:mutationAssociatedWith |
gptkb:BTK_gene
|
| gptkbp:namedAfter |
gptkb:Ogden_Bruton
|
| gptkbp:OMIM |
300755
|
| gptkbp:prevalence |
1 in 200,000 live births
|
| gptkbp:symptom |
gptkb:sinusitis
gptkb:pneumonia meningitis otitis media recurrent bacterial infections |
| gptkbp:treatment |
immunoglobulin replacement therapy
antibiotics for infections |
| gptkbp:bfsParent |
gptkb:Xq28
|
| gptkbp:bfsLayer |
6
|