       Document 0213
 DOCN  M9640213
 TI    [Primary immunodeficiency diseases]
 DT    9604
 AU    Mukaida N; Department of Pharmacology, Kanazawa University.
 SO    Nippon Rinsho. 1995 Nov;53(11):2821-6. Unique Identifier : AIDSLINE
       MED/96081682
 AB    A substantial proportion of patients with primary immunodeficiency
       diseases develop tumors, particularly those of lymphoreticular system
       caused by Epstein-Barr virus (EBV). Primary immunodeficiency renders
       patients susceptible to EBV by reducing immune reactions and
       surveillance abilities against the virus or inducing overreaction of the
       responding cells to the antigens. Recent progress in molecular biology
       has unraveled the genes responsible for several types of primary
       immunodeficiency diseases. The cloning of the ATM gene demonstrated that
       the mutations in this gene were observed in the members of all the
       families affected with ataxia telangiectasia (AT), indicating the
       crucial role of this gene in the pathogenesis of AT. The protein encoded
       by the ATM gene shows a high sequence homology with several proteins
       which are presumed to be involved in the regulation of the cell cycle
       transition. Accumulating evidence indicates that AT-derived cells are
       sensitive to irradiation due to the abnormalities in p53-dependent cell
       cycle arrest at G1 phase. Thus, the ATM product may regulate the cell
       cycle at G1 phase in a p53-dependent manner and the defect of the gene
       may lead to the accumulation of cells with DNA damages, thereby causing
       malignant transformation.
 DE    Animal  Ataxia Telangiectasia/GENETICS  Cell Cycle  DNA Damage  English
       Abstract  Genes, p53  G1 Phase  Herpesvirus 4, Human/IMMUNOLOGY  Human
       *Immunologic Deficiency Syndromes/GENETICS/IMMUNOLOGY  Mutation
       Neoplasms/ETIOLOGY  JOURNAL ARTICLE  REVIEW  REVIEW, TUTORIAL

       SOURCE: National Library of Medicine.  NOTICE: This material may be
       protected by Copyright Law (Title 17, U.S.Code).

