Annotation Detail
Information
- Associated Genes
- JAK3
- Associated Variants
-
JAK3 MUTATION
JAK3 MUTATION - Associated Disease
- combined immunodeficiency
- Source Database
- DisGeNET
- Description
- We here present the first case of revertant mosaicism in JAK3 deficiency, manifesting as combined immunodeficiency evolving into predominant CD4+ lymphopenia.
- Pubmed
- 25205547
- Section of the abstract supporting the evidence
- CONCLUSIONS
- Number of the section of the abstract supporting the evidence
- 4
- Number of the sentence supporting the evidence
- 10
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs