X-linked lymphoproliferative disease
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
Duncan disease
XLP |
| gptkbp:characterizedBy |
leukemia
hypogammaglobulinemia hemophagocytic lymphohistiocytosis increased susceptibility to Epstein-Barr virus uncontrolled lymphocyte proliferation |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1975
|
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked lymphoproliferative disease
|
| gptkbp:ICD-10_code |
D81.8
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:mortalityRate |
high without treatment
|
| gptkbp:mutationAssociatedWith |
SH2D1A gene
XIAP gene |
| gptkbp:namedAfter |
David C. Duncan
|
| gptkbp:OMIM |
308240
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptomsAppear |
childhood
|
| gptkbp:treatment |
antiviral therapy
hematopoietic stem cell transplantation immunoglobulin replacement therapy |
| gptkbp:bfsParent |
gptkb:XL6
|
| gptkbp:bfsLayer |
7
|