Titlebook: Diseases of DNA Repair; Shamim I. Ahmad Book 2010 The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Sci

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Rectal Cancer and Importance of Chemoradiation in the Treatment, to facilitate surgical intervention, reduce the rate of local recurrence and improve overall outcomes in patients suffering from this malignancy. However, this modality results in a wide range of clinical responses. In many cases, a pathological complete response is achieved, while in others, recei

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Primary Immunodeficiency Syndromes,ty. Defects in these pathways can lead to replication errors, loss or rearrangement of genomic material, mutation or cancer and eventual death. The creation of many diverse lymphocyte receptors to identify potential pathogens has evolved by breaking and randomly resorting the gene segments coding fo

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Inherited Defects of Immunoglobulin Class Switch Recombination,omplex molecular events that underlie antibody maturation in humans. The Activation-induced cytidine deaminase (AID)-deficiency, characterized by a defect in Class Switch Recombination (CSR) and somatic hypermutation, has revealed the master role of this molecule in the induction of DNA damage, the

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Ligase IV Syndrome,ogically, patients affected with this syndrome are characterized by microcephaly, unusual facial features, growth retardation, developmental delay, skin anomalies and are typically pancytopenic. The disease leads to acute radiosensitivity, immunodeficiency and bone marrow abnormalities. LIG4 syndrom

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