Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare congenital immunodeficiency disorder
|
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
gptkb:aleukocytosis
|
| gptkbp:category |
genetic disorder
immunodeficiency |
| gptkbp:characterizedBy |
gptkb:lymphopenia
immunodeficiency agranulocytosis |
| gptkbp:diagnosedBy |
genetic testing
blood cell counts |
| gptkbp:firstDescribed |
1959
|
| https://www.w3.org/2000/01/rdf-schema#label |
Reticular dysgenesis
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:AK2_gene
|
| gptkbp:onset |
neonatal period
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:prognosis |
poor without treatment
|
| gptkbp:symptom |
failure to thrive
recurrent infections sensorineural deafness |
| gptkbp:treatment |
hematopoietic stem cell transplantation
|
| gptkbp:bfsParent |
gptkb:Severe_Combined_Immunodeficiency_(SCID)
|
| gptkbp:bfsLayer |
7
|