Immunological aspects of immunodeficiency diseases part 83

OTHER DNA REPAIR DEFECTS ASSOCIATED IMMUNODEFICIENCY

Nijmegen breakage syndrome, which is phenotypically similar to AT, is due to a mutation of the NBS1 gene that encodes a protein that acts as a substrate for ATM. DNA-ligase 1 defect, which also results in defective DNA repair, manifest with growth retardation and immunodeficiency. The product of the MRE11A gene is another component of the DNA damage sensing machinery. Mutation of the MRE11A gene results in a condition similar to AT