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DNA ligase IV deficiency

http://purl.obolibrary.org/obo/DOID_0060021

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://purl.obolibrary.org/obo/ECO_0007636 ]

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Term info

Label

DNA ligase IV deficiency

Synonyms

LIG4 Syndrome

database cross reference

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

DOID:0060021

Term relations

Subclass of:

autosomal recessive disease
combined T cell and B cell immunodeficiency
has material basis in some autosomal recessive inheritance
has phenotype some Growth delay
has phenotype some Immunodeficiency