Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
immunodeficiency |
| gptkbp:affects |
immune system
|
| gptkbp:cause |
recurrent infections
cytopenias enteropathy organ infiltration |
| gptkbp:causedBy |
mutations in CTLA4 gene
|
| gptkbp:characterizedBy |
autoimmunity
immune dysregulation hypogammaglobulinemia lymphoproliferation |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2014
|
| https://www.w3.org/2000/01/rdf-schema#label |
CTLA4 deficiency
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
616100
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
LRBA deficiency
|
| gptkbp:treatment |
gptkb:abatacept
immunosuppressive therapy |
| gptkbp:bfsParent |
gptkb:CTLA4_gene
|
| gptkbp:bfsLayer |
7
|