Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.

ABSTRACT:

Purpose

DNA Ligase 4 (LIG4) is a key factor in the non-homologous end-joining (NHEJ) DNA double-strand break repair pathway needed for V(D)J recombination and the generation of the T cell receptor and immunoglobulin molecules. Defects in LIG4 result in a variable syndrome of growth retardation, pancytopenia, combined immunodeficiency, cellular radiosensitivity, and developmental delay.

Methods

We diagnosed a patient with LIG4 syndrome by radiosensitivity testing on peripheral blood cells, and established that two of her four healthy siblings carried the same compound heterozygous LIG4 mutations. An extensive analysis of the immune phenotype, cellular radiosensitivity, telomere length, and T and B cell antigen receptor repertoire was performed in all siblings.

Results

SUBMITTER: Felgentreff K 

PROVIDER: S-EPMC4842108 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature