Nijmegen breakage syndrome in Ukraine: Diagnostics and follow-up

Central-European Journal of Immunology

Volumn 34, Issue 1, 2009, Pages 46-52

  Kostyuchenko, Larysa ^a   Makuch, Halyna ^b   Kitsera, Nataliya ^b   Polishchuk, Romana ^a   Markevych, Nataliya ^b   Akopian, Hajane ^b  

^a Lviv Children's Hospital   (Ukraine)

^b Research Institute of Hereditary Pathology   (Ukraine)

Author keywords

Children; Nijmegen breakage syndrome (NBS); Primary immunodeficiencies

Indexed keywords

ANTIBIOTIC AGENT; IMMUNOGLOBULIN; NIBRIN;

ARTICLE; CHILD; CHROMOSOME ANALYSIS; CHRONIC BRONCHITIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DRUG FEVER; FEMALE; FOLLOW UP; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; MALE; MICROCEPHALY; MYALGIA; NIJMEGEN BREAKAGE SYNDROME; SHIVERING; SINUSITIS; UKRAINE; VOMITING;

EID: 65549152370     PISSN: 14263912     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Weemaes CM, Hustinx TW, Scheres JM et al. (1981): A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand 70: 557-564.
2. Seemanova E, Passarge E, Beneskova D et al. (1985): Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. Am J Med Genet 20: 639-648.
3. Jaspers NG, Taalman RD, Baan C (1988): Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia. Am J Hum Genet 42: 66-73.
4. Porcedda P, Turinetto V, Lantelme E et al. (2006): Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome. DNA Repair (Amst) 5: 904-913.
5. Wegner RD, Chrzanowska K, Sperling K, Stumm M: Ataxia-telangiectasia variants (Nijmegen breakage syndrome)/Primary Immunodeficiency Diseases. In: A Molecular and Genetic Approach. Oxford University Press, New York 1999; pp. 324-334.
6. Carney JP, Maser RS, Olivares H et al. (1998): The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93: 477-486.
7. Varon R, Vissinga C, Platzer M et al. (1998): Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen Breakage Syndrome. Cell 93: 467-476.
8. De la Torre C, Pincheira J, Lopez-Saez JF (2003): Human syndromes with genomic instability and multiprotein machines that repair DNA double-strand breaks. Histol Histopathol 18: 225-243.
9. The International Nijmegen Breakage Syndrome Study Group (2000): Nijmegen breakage syndrome. Arch Dis Child 82: 400-406.
10. Cheung VG, Ewens WJ (2006): Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype. Genome Res 16: 973-979.
11. Seemanova E, Pohanka V, Seeman P et al. (2004): [Nijmegen breakage syndrome in Slovakia]. Cas Lek Cesk 143: 538-541; discussion 542.
12. Maraschio P, Spadoni E, Tanzarella C et al. (2003): Genetic heterogeneity for a Nijmegen breakage-like syndrome. Clin Genet 63: 283-290.
13. Kondratenko I, Paschenko O, Polyakov A, Bologov A (2007): Nijmegen breakage syndrome. Adv Exp Med Biol 601: 61-67.
14. Varon R, Seemanova E, Chrzanowska K et al. (2000): Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. Eur J Hum Genet 8: 900-902.
15. Lammens M, Hiel JA, Gabreels FJ et al. (2003): Nijmegen breakage syndrome: a neuropathological study. Neuropediatrics 34: 189-193.
16. Seemanova E, Sperling K, Neitzel H et al. (2006): Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. J Med Genet 43: 218-224.
17. Chrzanowska KH, Stumm M, Bekiesiska-Figatowska M et al. (2001): Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain. J Med Genet 38: 3.
18. Gregorek H, Chrzanowska KH, Michalkiewicz J et al. (2002): Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre. Clin Exp Immunol 130: 319-324.
19. Bakhshi S, Cerosaletti KM, Concannon P et al. (2003): Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome. J Pediatr Hematol Oncol 25: 248-251.
20. Kruger L, Demuth I, Neitzel H et al. (2007): Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein. Carcinogenesis 28: 107-111.
21. Chrzanowska KH, Piekutowska-Abramczuk D, Popowska E et al. (2006): Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies. Int J Cancer 118: 1269-1274.
22. Muschke P, Gola H, Varon R et al. (2004): Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome. Prenat Diagn 24: 111-113.