DNA ligase IV deficiency
Information
- Disease name
- DNA ligase IV deficiency
- Disease ID
- DOID:0060021
- Description
- "A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay." [url:http\://omim.org/entry/606593, url:http\://www.ncbi.nlm.nih.gov/gene/3981]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:628
- Cross Reference ID (Disease Ontology)
- MIM:606593
- Exact Synonym (Disease Ontology)
- LIG4 Syndrome