Cernunnos, a novelnonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

Article Abstract:

Failure to properly repair DSBs result in genetic instability, developmental delay, and various forms of immunodeficiency is characterized by a profound T+B lymphcytopenia. An increased cellular sensitivity to ionizing radiation, a defective V(D)J recombination, and an impaired DNA-end ligation process both in vivo and in vitro are indicative of a general DNA repair defect in the patients.

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Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune defeciency

Article Abstract:

Research has been conducted on the variable, diversity, joining gene segments expressed by a mechanism known as V(D)J recombination. The cloning of the gene Artemis which encodes a protein involved in the V(D)J recombination /DNA repair has been carried out and the results of the protein sequence analysis suggest that this gene belongs to the metallo-beta-lactamase superfamily.

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Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)

Article Abstract:

Research reveals that cytidine deaminase gene mutation in association with the autosomal recessive form of hyper-IgM syndrome blocks IgG class switch recombination, IgG somatic hypermutations, and lymph node hyperplasia. Data indicate that cytidine deaminase is required for B cell terminal differentiation steps that confers affinity maturation of antibody responses.

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