DNA ligase IV deficiency

Summary

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,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lig4

OMIM:

MIM:606593 - lig4 syndrome

MIM:606593 - lig4 syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): combined T cell and B cell immunodeficiency (is_a)