RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

LIG4

mRNA IDs

Primary Information

NM_002312.3, NM_206937.1

Gene Symbol

LIG4

Protein Name

Ligase iv, dna, atp-dependent

Alternate Names

Gene Locus

13q33-q34

Disease name	Characteristic / Associated features	Category	Inheritance type
DNA ligase IV deficiency	Developmental retardation; growth retardation; facial dysmorphism; microcephaly; pancytopenia; skin abnormalities; pronounced radiosensitivity; decreased T cells; decreased B-cell numbers	Combined T-cell and B-cell immunodeficiencies	Autosomal recessive

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