Term Name: DNA ligase IV deficiency
Synonyms: LIG4 Syndrome
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.
Ontology: Human Disease [DOID:0060021]   ( DOID:0060021 )

Relationships
is a type of: autosomal recessive disease combined T cell and B cell immunodeficiency