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Severe Combined Immunodeficiency (SCID) Screening in Arizona: Lessons Learned from the First 2 Years

Abstract

Purpose

The incidence of severe combined immunodeficiency (SCID) in the USA was reported as 1 in 58,000 live births. In Arizona, it was anticipated that newborn screening would identify two to four cases of SCID per year. This estimate did not consider ethnic nuances in Arizona, with higher percentages of Native American and Hispanic populations compared to national percentages. The true incidence of SCID and non-SCID T cell lymphopenia has not previously been reported in Arizona.

Methods

A retrospective chart review was performed on all abnormal SCID newborn screening (NBS) tests in Arizona from January 1, 2018, to December 31, 2019, using data from the Arizona Department of Health Services and the Phoenix Children’s Hospital’s electronic medical record [IRB# 20–025].

Results

Seven infants were diagnosed with SCID, yielding an incidence of 1 in 22,819 live births. Four of these infants had Artemis-type SCID. Thirteen infants were identified with an abnormal initial NBS which ultimately did not lead to a diagnosis of SCID. Four of these infants were diagnosed with congenital syndromes associated with T cell lymphopenia. Infants of Hispanic ethnicity were over-represented in this cohort.

Conclusion

Over 2 years, NBS in Arizona confirmed an incidence more than 2.5 times that reported nationally. This increased incidence is likely reflective of Arizona’s unique population profile, with a higher percentage of Native American population. The findings in our non-SCID cohort are in alignment with previously published data, except for an increased percentage of infants of Hispanic/Latino ethnicity, possibly reflecting Arizona’s increased percentage of Hispanic/Latino population compared to the general US population.

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Data Availability

The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request. REDCap was used for data collection and storage.

Abbreviations

SCID:

Severe combined immunodeficiency

NBS:

Newborn screening

HCT:

Hematopoietic cell transplant

ADA:

Adenosine deaminase

TCRs:

T cell receptors

TREC:

T cell receptor excision circles

PCH:

Phoenix Children’s Hospital

CMA:

Chromosomal microarray

CBC:

Complete blood count

LSP:

Lymphocyte subset panel

TCL:

T cell lymphopenia

PID:

Primary immunodeficiency

BPD:

Bronchopulmonary dysplasia

VUS:

Variant of uncertain significance

RUSP:

Recommended Uniform Screening Panel

CMV:

Cytomegalovirus

MSD:

Matched sibling donor

MUD:

Matched unrelated donor

GVHD:

Graft-versus-host disease

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Acknowledgements

The authors would like to thank the Arizona Department of Health Services, Office of Newborn Screening, for their support of this research by sharing birth and newborn screening data for the state of Arizona.

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Authors and Affiliations

Authors

Contributions

All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by Natalie Booth and Catherine Freeman. The first draft of the manuscript was written by Natalie Booth and Catherine Freeman, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Natalie A. Booth.

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Ethics Approval

This is an observational/retrospective study. The Phoenix Children’s Hospital Research Ethics Committee has confirmed that no ethical approval is required. Phoenix Children’s Hospital Institutional Review Board did approve the study.

Consent to Participate

As this was a retrospective study and no intervention took place, the study did not require informed consent from study subjects. The Phoenix Children’s Hospital Institutional Review Board approved the study.

Consent to Publish

Not applicable, this is a retrospective study.

Competing Interests

The authors declare no competing interests.

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Natalie A. Booth and Catherine M. Freeman are co-first authors.

Cindy S. Bauer and Holly Miller are co-last authors.

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Booth, N.A., Freeman, C.M., Wright, B.L. et al. Severe Combined Immunodeficiency (SCID) Screening in Arizona: Lessons Learned from the First 2 Years. J Clin Immunol (2022). https://doi.org/10.1007/s10875-022-01307-4

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Keywords

  • Severe combined immunodeficiency
  • Newborn screening
  • Founder effect
  • Arizona
  • Lymphopenia