Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
immunodeficiency disorder |
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
gptkb:Bruton’s_disease
|
| gptkbp:cause |
increased susceptibility to infections
|
| gptkbp:characterizedBy |
very low levels of immunoglobulins
absence of gamma globulins |
| gptkbp:diagnosedBy |
flow cytometry
serum immunoglobulin measurement |
| gptkbp:firstDescribed |
gptkb:Ogden_Bruton
|
| https://www.w3.org/2000/01/rdf-schema#label |
agammaglobulinemia
|
| gptkbp:ICD-10_code |
D80.0
|
| gptkbp:inheritance |
X-linked recessive trait
autosomal recessive trait |
| gptkbp:mostCommonType |
gptkb:X-linked_agammaglobulinemia
|
| gptkbp:mutationAssociatedWith |
gptkb:BTK_gene
|
| gptkbp:onset |
early childhood
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:pneumonia
otitis media recurrent bacterial infections sinopulmonary infections |
| gptkbp:treatment |
antibiotics
immunoglobulin replacement therapy |
| gptkbp:bfsParent |
gptkb:PIK3R1
gptkb:B_cells |
| gptkbp:bfsLayer |
6
|