Role of Nijmegen Breakage Syndrome Protein in Specific T-Lymphocyte Activation Pathways

AUTOR(ES)

García-Pérez, Miguel Angel

FONTE

American Society for Microbiology

RESUMO

Nijmegen breakage syndrome (NBS) is a genetic disorder characterized by immunodeficiency, microcephaly, and “bird-like” facies. NBS shares some clinical features with ataxia telangiectasia (AT), including increased sensitivity to ionizing radiation, increased spontaneous and induced chromosome fragility, and strong predisposition to lymphoid cancers. The mutated gene that results in NBS codes for a novel double-stranded DNA break repair protein, named nibrin. In the present work, a Spanish NBS patient was extensively characterized at the immunological and the molecular DNA levels. He showed low CD3+-cell numbers and an abnormal low CD4+ naive cell/CD4+ memory cell ratio, previously described in AT patients and also described in the present report in the NBS patient. The proliferative response of peripheral blood lymphocytes in vitro to mitogens is deficient in NBS patients, but the possible link among NBS mutations and the abnormal immune response is still unknown.

Documentos Relacionados

• Extracellular ATP in T-lymphocyte activation: Possible role in effector functions
• Extracellular ATP in T-lymphocyte activation: possible role in effector functions.
• Role of T-lymphocyte subsets in Rhodococcus equi infection.
• Role of lysophosphatidylcholine in T-lymphocyte activation: involvement of phospholipase A2 in signal transduction through protein kinase C.
• c-myb protein expression is a late event during T-lymphocyte activation.