Literature DB >> 2400879

An instance of clinical radiation morbidity and cellular radiosensitivity, not associated with ataxia-telangiectasia.

P N Plowman1, B A Bridges, C F Arlett, A Hinney, J E Kingston.   

Abstract

A 14-year-old boy received standard induction chemotherapy for acute lymphoblastic leukaemia followed by standard dose cranial radiation prophylaxis (18 Gy). Severe chemosensitivity and acute radiation reactions occurred and he died at 8 months from late radiation damage. In vitro radiobiological studies of the boy's fibroblasts in culture demonstrated an enhanced radiosensitivity indistinguishable from ataxia-telangiectasia (A-T) cells. However, unlike A-T cells, DNA synthesis following irradiation was inhibited in a normal manner. This patient represents yet another example of extreme radiosensitivity, and the possibility of clinical prediction in the future is discussed.

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Year:  1990        PMID: 2400879     DOI: 10.1259/0007-1285-63-752-624

Source DB:  PubMed          Journal:  Br J Radiol        ISSN: 0007-1285            Impact factor:   3.039


  27 in total

Review 1.  Immunodeficiency associated with DNA repair defects.

Authors:  A R Gennery; A J Cant; P A Jeggo
Journal:  Clin Exp Immunol       Date:  2000-07       Impact factor: 4.330

2.  Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity.

Authors:  Pavel Lobachevsky; Lisa Woodbine; Kuang-Chih Hsiao; Sharon Choo; Chris Fraser; Paul Gray; Jai Smith; Nickala Best; Laura Munforte; Elena Korneeva; Roger F Martin; Penny A Jeggo; Olga A Martin
Journal:  J Mol Diagn       Date:  2015-07-04       Impact factor: 5.568

Review 3.  Clinical radiation sensitivity with DNA repair disorders: an overview.

Authors:  Julianne M Pollard; Richard A Gatti
Journal:  Int J Radiat Oncol Biol Phys       Date:  2009-08-01       Impact factor: 7.038

4.  Genetic evidence for the involvement of DNA ligase IV in the DNA-PK-dependent pathway of non-homologous end joining in mammalian cells.

Authors:  H Wang; Z C Zeng; A R Perrault; X Cheng; W Qin; G Iliakis
Journal:  Nucleic Acids Res       Date:  2001-04-15       Impact factor: 16.971

5.  Radiosensitive severe combined immunodeficiency disease.

Authors:  Christopher C Dvorak; Morton J Cowan
Journal:  Immunol Allergy Clin North Am       Date:  2010-02       Impact factor: 3.479

6.  A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.

Authors:  Ekim Z Taskiran; Hafize E Sonmez; Can Kosukcu; Ece Tavukcuoglu; Gozde Yazici; Gunes Esendagli; Ezgi D Batu; Pelin O S Kiper; Yelda Bilginer; Mehmet Alikasifoglu; Seza Ozen
Journal:  J Clin Immunol       Date:  2019-01-08       Impact factor: 8.317

7.  Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome.

Authors:  Melody P Lun; Morgan L Shannon; Sevgi Keles; Ismail Reisli; Nicole Luche; Douglas Ryan; Kelly Capuder; Luigi D Notarangelo; Maria K Lehtinen
Journal:  Am J Pathol       Date:  2019-09-18       Impact factor: 4.307

8.  The DNA Ligase IV Syndrome R278H Mutation Impairs B Lymphopoiesis via Error-Prone Nonhomologous End-Joining.

Authors:  Jihye Park; Robert S Welner; Mei-Yee Chan; Logan Troppito; Philipp B Staber; Daniel G Tenen; Catherine T Yan
Journal:  J Immunol       Date:  2015-11-25       Impact factor: 5.422

9.  DNA LIGASE IV SYNDROME: A RARE CAUSE OF GROWTH FAILURE & HYPOGONADISM.

Authors:  Jennifer J Iyengar; Shane C Quinonez; Nataliya Razumilava; Barbara Soyster; Yolanda R Smith; Mark T Vander Lugt; Jennifer Wyckoff
Journal:  AACE Clin Case Rep       Date:  2018-11-01

Review 10.  Normal tissue reactions to radiotherapy: towards tailoring treatment dose by genotype.

Authors:  Gillian C Barnett; Catherine M L West; Alison M Dunning; Rebecca M Elliott; Charlotte E Coles; Paul D P Pharoah; Neil G Burnet
Journal:  Nat Rev Cancer       Date:  2009-01-16       Impact factor: 60.716

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