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Metadata
ID	DOID:0060021
Name	DNA ligase IV deficiency
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. http://omim.org/entry/606593, http://www.ncbi.nlm.nih.gov/gene/3981
Xrefs	OMIM:606593
Synonyms	LIG4 Syndrome [EXACT]
Parent Relationships	is_a combined T cell and B cell immunodeficiency is_a autosomal recessive disease