Skip to main content

Advertisement

Log in

Severe Combined Immunodeficiency (SCID)—the Irish Experience

  • 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

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

Instant access to the full article PDF.

Data Availability

Not applicable (my manuscript has no associated data or the data will not be deposited.)

Code Availability

Not applicable.

References

  1. Rivers L, Gaspar HB. Severe combined immunodeficiency: recent developments and guidance on clinical management. Arch Dis Child. 2015;100(7):667–72.

    Article  Google Scholar 

  2. Gaspar HB, Hammarström L, Mahlaoui N, Borte M, Borte S. The case for mandatory newborn screening for severe combined immunodeficiency (SCID). J Clin Immunol. 2014;34(4):393–7.

    Article  CAS  Google Scholar 

  3. Adams SP, Wilson M, Harb E, et al. Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: segregation of genotypes with specific ethnicities. Clin Immunol. 2015;161(2):174–9.

    Article  CAS  Google Scholar 

  4. Flinn AM, Flood T, Prendiville T, Gennery AR, Leahy TR. Adenosine deaminase deficient SCID with myocardial hypertrophy. J Clin Immunol. 2021.

  5. Pai SY, Logan BR, Griffith LM, et al. Transplantation outcomes for severe combined immunodeficiency, 2000–2009. N Engl J Med. 2014;371(5):434–46.

    Article  CAS  Google Scholar 

  6. Amatuni GS, Currier RJ, Church JA, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California, 2010–2017. Pediatrics. 2019;143(2).

  7. Kwan A, Abraham RS, Currier R, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014;312(7):729–38.

    Article  Google Scholar 

  8. Dvorak CC, Haddad E, Buckley RH, et al. The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010–2018). J Allergy Clin Immunol. 2019;143(1):405–7.

    Article  Google Scholar 

  9. Lynch SA, Crushell E, Lambert DM, et al. Catalogue of inherited disorders found among the Irish Traveller population. J Med Genet. 2018;55(4):233–9.

    Article  CAS  Google Scholar 

  10. Relethford JH, Crawford MH. Genetic drift and the population history of the Irish travellers. Am J Phys Anthropol. 2013;150(2):184–9.

    Article  Google Scholar 

  11. McGorrian C, Frazer K, Daly L, et al. The health care experiences of Travellers compared to the general population: the All-Ireland Traveller Health Study. J Health Serv Res Policy. 2012;17(3):173–80.

    Article  Google Scholar 

  12. Hirschhorn R, Chakravarti V, Puck J, Douglas SD. Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). Am J Hum Genet. 1991;49(4):878–85.

    CAS  PubMed  PubMed Central  Google Scholar 

  13. Booth C, Algar VE, Xu-Bayford J, Fairbanks L, Owens C, Gaspar HB. Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency. J Clin Immunol. 2012;32(3):449–53.

    Article  CAS  Google Scholar 

  14. Kohn DB, Booth C, Shaw KL, et al. Autologous ex vivo lentiviral gene therapy for adenosine deaminase deficiency. N Engl J Med. 2021

  15. Fitzpatrick P, Leonard J, Twomey E, et al. Severe combined immunodeficiency syndrome presenting with disseminated BCG infection. Arch Dis Child. 2015;100(9):891.

    Article  Google Scholar 

  16. Morillo-Gutierrez B, Worth A, Valappil M, Gaspar HB, Gennery AR. Chronic infection with rotavirus vaccine strains in UK children with severe combined immunodeficiency. Pediatr Infect Dis J. 2015;34(9):1040–1.

    Article  Google Scholar 

  17. Azzari C, la Marca G, Resti M. Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry. J Allergy Clin Immunol. 2011;127(6):1394–9.

    Article  CAS  Google Scholar 

Download references

Acknowledgements

The authors wish to acknowledge the clinical care given to this cohort of patients by their clinicians, in particular Professor Karina M Butler and Dr. Patrick J Gavin in the Department of Paediatric Infectious Diseases and Immunology in Children’s Health Ireland, Crumlin; the Haematopoietic Stem Cell Transplant Team in Newcastle upon Tyne, United Kingdom (UK); and the clinical team in the Gene Therapy Unit at Great Ormond Street Hospital, London, UK. We would also like to acknowledge the help of Dr. David Waldron, Paediatrician in St Luke’s Hospital Kilkenny, who cared for a number of patients in this cohort.

Funding

Research at GOSH is supported by GOSH NIHR BRC.

Author information

Authors and Affiliations

Authors

Contributions

All co-authors have reviewed the manuscript and have contributed in a substantive and intellectual manner to the work described.

Corresponding author

Correspondence to Heather Burns.

Ethics declarations

Competing Interests

The authors declare no competing interests.

Additional information

Publisher’s note

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

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 (DOCX 156 KB)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Burns, H., Collins, A., Marsden, P. et al. Severe Combined Immunodeficiency (SCID)—the Irish Experience. J Clin Immunol 41, 1950–1953 (2021). https://doi.org/10.1007/s10875-021-01106-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10875-021-01106-3

Navigation