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The text is the summary of recent articles on Lig4 Syndrome at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.
Commonly associated features include primordial growth failure with severe microcephaly and a spectrum of learning difficulties, marrow hypoplasia and a predisposition to lymphoid malignancy . Diagnostic investigations include immunophenotyping, and testing for radiosensitivity . Some patients present with microcephaly as a predominant feature, but seemingly normal immunity . The process of V(D)J recombination functions during the development of the immune response, and involves the introduction and rejoining of programmed DSBs to generate an array of diverse T and B Cells . NHEJ also functions in class switch recombination, another step enhancing T and B cell diversity .
Via combined analysis of DNA breakage, apoptosis, and cell-cycle checkpoint control in tissues, we show that apoptosis in the VZ/SVZ and IZ is activated by low numbers of DNA double-strand breaks (DSBs) . The disease leads to acute radiosensitivity, immunodeficiency and Bone marrow abnormalities . The phenotype of homozygous mutant mice Lig4(R278H/R278H) (Lig4(R/R)) includes Growth Retardation, a decreased life span, a severe cellular sensitivity to ionizing radiation, and a very severe, but incomplete block in T and B cell development . Cell lines from these patients are characterized by sensitivity to DSB-inducing agents . Defects in V(D)J recombination result in SCID characterized by absence of mature B and T Cells .
We report a 4(1/2)-year-old boy who presented with acute T-cell leukemia . Although four of the five identified patients display Immunodeficiency and developmental delay, one patient was developmentally normal . RS-SCID is characterised by severe combined immunodeficiency but patients have no overt developmental abnormalities .
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