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Metadata
DOID 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
Synonyms

LIG4 Syndrome [EXACT]

Xrefs

OMIM:606593

Relationships

is_a combined T cell and B cell immunodeficiency

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