Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs)

Journal of Clinical Immunology

Volumn 35, Issue 2, 2015, Pages 227-233

  Patel, Jay P ^a   Puck, Jennifer M ^b   Srinivasan, Rajgopal ^c   Brown, Christina ^d   Sunderam, Uma ^c   Kundu, Kunal ^c   Brenner, Steven E ^e   Gatti, Richard A ^d   Church, Joseph A ^f  

^a CHILDREN S HOSPITAL LOS ANGELES   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c TATA CONSULTANCY SERVICES   (India)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

exome sequencing; nibrin; Nijmegen breakage syndrome; SCID; T lymphopenia; TREC

Indexed keywords

ACTIN; GENOMIC DNA; NIBRIN; T LYMPHOCYTE RECEPTOR; CELL CYCLE PROTEIN; CIRCULAR DNA; LYMPHOCYTE ANTIGEN RECEPTOR; NBN PROTEIN, HUMAN; NUCLEAR PROTEIN;

ARTICLE; ATAXIA TELANGIECTASIA; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; FAILURE TO THRIVE; GENE DELETION; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC VARIABILITY; GESTATIONAL AGE; HUMAN; HUMAN CELL; HYDROCEPHALUS; HYDRONEPHROSIS; IMMUNOBLOTTING; LYMPHOCYTE; MALE; NEWBORN; NEWBORN SCREENING; NIJMEGEN BREAKAGE SYNDROME; NONSENSE MUTATION; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; RADIOSENSITIVITY; URINARY TRACT INFECTION; VAGINAL DELIVERY; EXOME; GENE REARRANGEMENT; GENETICS; HIGH THROUGHPUT SEQUENCING; IMMUNOLOGY; INFANT; METABOLISM; T LYMPHOCYTE;

CELL CYCLE PROTEINS; DNA, CIRCULAR; EXOME; GENE REARRANGEMENT, T-LYMPHOCYTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INFANT, NEWBORN; MALE; NEONATAL SCREENING; NIJMEGEN BREAKAGE SYNDROME; NUCLEAR PROTEINS; RECEPTORS, ANTIGEN, T-CELL; T-LYMPHOCYTES;

EID: 84925484460     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-015-0136-6     Document Type: Article

References (32)

1. Buckley RH. The long quest for neonatal screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2012;129(3):597–604.
2. Kwan A, Abraham RS, Currier R, Brower, Andruszewski K, Abbott JK, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014;312(7):729–38.
3. Puck JM. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J Allergy Clin Immunol. 2012;129(3):607–16.
4. Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol. 2013;132(1):140–50. e7.
5. Mallott J, Kwan A, Church J, Gonzalez-Espinosa D, Lorey F, Tang LF, et al. Newborn screening for SCID identifies patients with ataxia telangiectasia. J Clin Immunol. 2013;33(3):540–9.
6. Weemaes C, Hustinx T, Scheres J, Munster P, Bakkeren J, Taalman R. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr. 1981;70(4):557–64.
7. Chrzanowska K, Kleijer W, Krajewska‐Walasek M, Białecka M, Gutkowska A, Goryluk‐Kozakiewicz B, et al. Eleven polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome. Am J Med Genet. 1995;57(3):462–71.
8. Nijmegen breakage syndrome. The international Nijmegen breakage syndrome study group. Arch Dis Child. 2000;82(5):400–6.
9. Resnick IB, Kondratenko I, Togoev O, Vasserman N, Shagina I, Evgrafov O, et al. Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families. J Pediatr. 2002;140(3):355–61.
10. Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell. 1998;93(3):467–76.
11. Chun HH, Sun X, Nahas SA, Teraoka S, Lai C, Concannon P, et al. Improved diagnostic testing for ataxia–telangiectasia by immunoblotting of nuclear lysates for ATM protein expression. Mol Genet Metab. 2003;80(4):437–43.
12. Sun X, Becker-Catania SG, Chun HH, Hwang MJ, Huo Y, Wang Z, et al. Early diagnosis of ataxia-telangiectasia using radiosensitivity testing. J Pediatr. 2002;140(6):724–31.
13. Li H, Durbin R. Fast and accurate short read alignment with burrows-wheeler transform. Bioinformatics. 2009;25(14):1754–60.
14. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297–303.
15. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43(5):491–8.
16. Garrison E, Marth G. Haplotype-based variant detection from short-read sequencing. arXiv preprint arXiv:1207.3907 2012.
17. 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature. 2010;467(7319):1061–73.
18. Mills RE, Pittard WS, Mullaney JM, Farooq U, Creasy TH, Mahurkar AA, et al. Natural genetic variation caused by small insertions and deletions in the human genome. Genome Res. 2011;21(6):830–9.
19. Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2014;22(5):162.
20. Pruitt KD, Brown GR, Hiatt SM, Thibaud-Nissen F, Astashyn A, Ermolaeva O, et al. RefSeq: an update on mammalian reference sequences. Nucleic Acids Res. 2014;42(Database issue):D756–63.
21. Adzhubei IA, Schmidt S, Peshkin L, Ramensky V, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;4:248–9.
22. 1000 Genomes Project Consortium. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(7422):56–65.
23. Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012;337(6090):64–9.
24. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29(1):308–11.
25. Chrzanowska KH, Stumm M, Bekiesiska-Figatowska M, Varon R, Biaecka M, Gregorek H, et al. Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain. J Med Genet. 2001;38(1):E3.
26. Maraschio P, Danesino C, Antoccia A, Ricordy R, Tanzarella C, Varon R, et al. A novel mutation and novel features in Nijmegen breakage syndrome. J Med Genet. 2001;38(2):113–7.
27. Green AJ, Yates JR, Taylor AM, Biggs P, McGuire GM, McConville CM, et al. Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome. Arch Dis Child. 1995;73(5):431–4.
28. Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis. 2012;7(1):13.
29. Gregorek H, Chrzanowska KH, Dzierżanowska-Fangrat K, Wakulińska A, Pietrucha B, Zapaśnik A, et al. Nijmegen breakage syndrome: long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy. Clin Immunol. 2010;135(3):440–7.
30. Michałkiewicz J, Barth C, Chrzanowska K, Gregorek H, Syczewska M, Weemaes C, et al. Abnormalities in the T and NK lymphocyte phenotype in patients with Nijmegen breakage syndrome. Clin Exp Immun. 2003;134(3):482–90.
31. Albert M, Gennery A, Greil J, Cale C, Kalwak K, Kondratenko I, et al. Successful SCT for Nijmegen breakage syndrome. Bone Marrow Transplant. 2009;45(4):622–6.
32. Platt C, Geha RS, Chou J. Gene hunting in the genomic era: Approaches to diagnostic dilemmas in patients with primary immunodeficiencies. J Allergy Clin Immunol 2013.