|OBO ID: DOID:0060021|
|Term Name:||DNA ligase IV deficiency||Search Ontology:|
|Definition:||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. (2)|
|Ontology:||Human Disease (DOID:0060021)|
|is a type of:||
OTHER DNA ligase IV deficiency PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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