Abstract:
:The adaptive component of the immune system depends greatly on the generation of genetic diversity provided by lymphocyte-specific genomic rearrangements. V(D)J recombination, class switch recombination (CSR), and somatic hypermutation (SHM) constitute complex and vulnerable processes that are orchestrated by a multitude of DNA repair pathways. When inherited defects in certain DNA repair proteins are present, lymphocyte development can be compromised and, consequently, patients can develop primary immunodeficiencies (PIDs). PID patients often have a strong predisposition for cancer development as a result of genomic instability generated from defective DNA repair mechanisms. Tumors of lymphoid origin are one of the most common PID-associated cancers, likely due to DNA lesions resulting from defective V(D)J, CSR, and SHM. In this review, we describe PID syndromes that confer an increased risk for cancer development. Furthermore, we discuss the role of the affected proteins in tumorigenesis/lymphomagenesis.
journal_name
Ann N Y Acad Scijournal_title
Annals of the New York Academy of Sciencesauthors
de Miranda NF,Björkman A,Pan-Hammarström Qdoi
10.1111/j.1749-6632.2011.06322.xsubject
Has Abstractpub_date
2011-12-01 00:00:00pages
50-63eissn
0077-8923issn
1749-6632journal_volume
1246pub_type
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