Skip to main content

Advertisement

SpringerLink
Log in

RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency

  • Letter to Editor
  • Published:
Journal of Clinical Immunology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

References

  1. Flinn AM, Gennery AR. Adenosine deaminase deficiency: a review. Orphanet J Rare Dis. 2018;13:65.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Rae W, Ward D, Mattocks C, Pengelly RJ, Eren E, Patel SV, et al. Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. Clin Genet. 2018;93:647–55.

    Article  CAS  PubMed  Google Scholar 

  3. Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Exome aggregation consortium. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285–91.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Hershfield MS. Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Curr Opin Immunol. 2013;15:571–7.

    Article  CAS  Google Scholar 

  6. Ameur A, Kloosterman WP, Hestand MS. Single-molecule sequencing: towards clinical applications. Trends Biotechnol. 2018;S0167-7799:30204.

    Google Scholar 

  7. Department of Health and Social Care. Matt Hancock announces ambition to map 5 million genomes. https://www.gov.uk/government/news/matt-hancock-announces-ambition-to-map-5-million-genomes. Last accessed: 29th October 2018.

  8. Ellingford JM, Beaman G, Webb K, O’Callaghan C, Hirst RA, on behalf of the 100,000 Genomes Project, Black GCM, Newman WG. Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia. bioRxiv 2018;438838. https://doi.org/10.1101/438838.

  9. Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017;9:386.

    Article  Google Scholar 

  10. Ameur A, Kloosterman WP, Hestand MS. Single-molecule sequencing: towards clinical applications. Trends Biotechnol. 2018;S0167-7799:30204.

    Google Scholar 

Download references

Funding Sources

This work is supported by the National Institute for Health Research (NIHR) Leeds Biomedical Research Centre and a Medical Research Council grant awarded to Professor Bonthron (MR/M009084/1).

Author information

Authors and Affiliations

  1. Yorkshire Regional Genetics Service, The Leeds Teaching Hospitals NHS Trust, St. James’s University Hospital, Beckett Street, Leeds, LS9 7TF, UK

    Christopher M. Watson, Ian Berry, Laura A. Crinnion & David T. Bonthron

  2. Leeds Institute of Medical Research, University of Leeds, St. James’s University Hospital, Beckett Street, Leeds, LS9 7TF, UK

    Christopher M. Watson, Laura A. Crinnion, Ian M. Carr & David T. Bonthron

  3. Department of Clinical Immunology and Allergy, St. James’s University Hospital, Beckett Street, Leeds, LS9 7TF, UK

    Claire Stockdale & Sinisa Savic

  4. Northern Institute for Cancer Research, Tyne; and the Institute of Cellular Medicine, Newcastle University Medical School, Newcastle upon Tyne, NE2 4HH, UK

    Andrew Cant

  5. National Institute for Health Research, Leeds Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), Wellcome Trust Brenner Building, St. James’s University Hospital, Beckett Street, Leeds, LS9 7TF, UK

    Sinisa Savic

Authors
  1. Christopher M. Watson
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Claire Stockdale
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Ian Berry
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Laura A. Crinnion
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Ian M. Carr
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Andrew Cant
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. David T. Bonthron
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Sinisa Savic
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Sinisa Savic.

Ethics declarations

Disclosure of Potential Conflict of Interest

The authors declare that they have no conflicts of interest.

Disclaimer

The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health.

Additional information

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Electronic Supplementary Material

ESM 1

(PDF 3115 kb)

ESM 2

(PDF 1157 kb)

ESM 3

(DOCX 189 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Watson, C.M., Stockdale, C., Berry, I. et al. RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency. J Clin Immunol 39, 270–273 (2019). https://doi.org/10.1007/s10875-019-00625-4

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10875-019-00625-4

Search

Navigation