Targeted NGS: A cost-effective approach to molecular diagnosis of PIDs

Frontiers in Immunology

Volumn 5, Issue NOV, 2014, Pages

  Stoddard, Jennifer L ^a   Niemela, Julie E ^a   Fleisher, Thomas A ^a   Rosenzweig, Sergio D ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Genotype phenotype correlation; INDEL; Mutation analysis; Next generation sequencing; Primary immunodeficiency; Sanger sequencing; SNV

Indexed keywords

ADULT; ARTICLE; ATYPICAL MYCOBACTERIOSIS; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; CONTROLLED STUDY; COST BENEFIT ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HIGH THROUGHPUT SEQUENCING; HUMAN; HYBRIDIZATION; HYPER IGM SYNDROME; IMMUNE DEFICIENCY; NEXT GENERATION SEQUENCING; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84919429507     PISSN: None     EISSN: 16643224     Source Type: Journal    
DOI: 10.3389/fimmu.2014.00531     Document Type: Article

References (12)

1. Boyle JM, Buckley RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol (2007) 27:497-502. doi: 10.1007/s10875-007-9103-1
2. Joshi AY, Iyer VN, Hagan JB, Sauver JLS, Boyce TG. Incidence and temporal trends of primary immunodeficiency: a population-based cohort study. Mayo Clin Proc (2009) 84(1):16-22. doi:10.1016/S0025-6196(11)60802-1
3. ESID database statistics. European Society for Immunodeficiencies. (2011). Available from: http://esid.org/Working-Parties/Registry/ESID-Database-Statistics
4. Bousfiha AA, Jeddane L, Ailal F, Benhsaien I, Mahlaoui N, Casanova JL, et al. Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol (2013) 33(1):1-7. doi:10.1007/s10875-012-9751-7
5. 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) 5:162. doi:10.3389/fimmu.2014.00162
6. Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, Renner ED, et al. Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies. J Allergy Clin Immunol (2014) 133(2):529-34. doi:10.1016/j.jaci.2013.08.032
7. Picard C, Fischer A. Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies. Eur J Immunol (2014) 44(10):2854-61. doi:10.1002/eji.201444669
8. Conley ME, Casanova JL. Discovery of single-gene inborn errors of immunity by next generation sequencing. Curr Opin Immunol (2014) 30C:17-23. doi:10.1016/j.coi.2014.05.004
9. Rothberg JM, Hinz W, Rearick TM, Schultz J, Mileski W, Davey M, et al. An integrated semiconductor device enabling non-optical genome sequencing. Nature (2011) 475(7356):348-52. doi:10.1038/nature10242
10. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from next-generation sequencing data. Nucleic Acids Res (2010) 38:e164. doi:10.1093/nar/gkq603
11. Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, et al. Working group of the American college of medical genetics and genomics laboratory quality assurance commitee. ACMG clinical laboratory standards for next-generation sequencing. Genet Med (2013) 15(9):733-47. doi:10.1038/gim.2013.92
12. Buckley RH. Variable phenotypic expression of mutations in genes of the immune system. J Clin Invest (2005) 115(11):2974-6. doi:10.1172/JCI26956