Annotation Detail
Information
- Associated Genes
- CTLA4
- Associated Variants
-
CTLA4 MUTATION
CTLA4 MUTATION - Associated Disease
- autoimmune lymphoproliferative syndrome
- Source Database
- DisGeNET
- Description
- Here we show that human ALPS DNT have features of terminally differentiated effector memory T cells reexpressing CD45RA(+) (TEMRA), but are CD27(+)CD28(+)KLRG1(-) and do not express the transcription factor T-bet.
- Pubmed
- 24894771
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs