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Summary Literature (0)
DOID:0060021 - DNA ligase IV deficiency


Disease 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.

Synonyms: LIG4 Syndrome

In OMIM:
OMIM:606593 - LIG4 SYNDROME

In Mondo Disease Ontology:
MONDO:0011686 - DNA ligase IV deficiency

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : lig4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): combined T cell and B cell immunodeficiency (is_a)