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Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel

Atar Lev1, Idan Sharir2, Amos J Simon3

  • 1Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, affiliated to the Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Mina and Everard Goodman Faculty of Life Sciences, Advanced Materials and Nanotechnology Institute, Bar-Ilan University, Ramat-Gan, Israel.

The Journal of Allergy and Clinical Immunology. in Practice
|April 29, 2022
PubMed

Insights

Newborn screening for severe combined immunodeficiency (SCID) in Israel diagnosed 32 infants, with a 91% survival rate after stem cell transplant. This program demonstrates the value of SCID screening for early detection and improved outcomes.

Area of Science:

  • Immunology
  • Genetics
  • Public Health

Background:

  • Newborn screening (NBS) for severe combined immunodeficiency (SCID) significantly improves infant outcomes.
  • Long-term follow-up data from NBS programs are crucial for refining diagnostic and treatment strategies.

Purpose of the Study:

  • To summarize a 5-year newborn screening program for SCID in Israel.
  • To evaluate the immunologic, genetic, and clinical outcomes of infants identified through SCID screening.

Main Methods:

  • Screened 937,953 Guthrie cards for SCID.
  • Utilized flow cytometry, T cell receptor excision circle measurement, and TCRVβ repertoire analysis for validation.
  • Collected and analyzed clinical and outcome data for diagnosed SCID cases.

Main Results:

  • Identified an incidence of SCID at 1:29,000 births in Israel.
  • Detected 32 SCID cases, with common genetic defects in DNA cross-link repair protein 1C and IL-7 receptor α genes.
  • Achieved a 91% survival rate in 22 SCID patients who underwent hematopoietic stem cell transplantation.

Conclusions:

  • Newborn screening for SCID is effective in early diagnosis and improving survival rates.
  • Global implementation of SCID NBS, particularly in areas with high consanguinity, is recommended.
  • Continued follow-up studies will enhance understanding of immune development and SCID management.
Abstract

Keywords:
Dry blood spotsHematopoietic stem cell transplantationNewborn screeningPrimary immunodeficiencySCIDSevere combined immunodeficiencyT cell lymphopenia

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