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Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR
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Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR

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[Advances in newborn screening and immune system reconstitution of severe combined immunodeficiency]

Shumin Huang1, Zhengyan Zhao1

  • 1Department of Internal Medicine, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences
|January 5, 2020
PubMed

Insights

Newborn screening and immune reconstitution are key for improving outcomes in severe combined immunodeficiency (SCID). Advances in methods show promise, but further research is needed for long-term efficacy evaluation.

Area of Science:

  • Immunology
  • Pediatrics
  • Genetics

Background:

  • Severe combined immunodeficiency (SCID) comprises rare congenital diseases marked by severe T lymphocyte deficiencies.
  • Clinical manifestations include recurrent, persistent, and severe infections.

Purpose of the Study:

  • To review recent advancements in newborn screening and immune reconstitution for SCID.
  • To highlight current challenges and future directions in SCID management.

Main Methods:

  • Review of current newborn screening methods, including T-cell receptor excision circles (TRECs) quantitative detection.
  • Discussion of emerging screening techniques like mass spectrometry and T lymphocyte-specific biomarker assays.
  • Overview of immune reconstitution strategies: hematopoietic stem cell transplantation and gene therapy.

Main Results:

  • Current TRECs-based newborn screening has limitations.
  • Hematopoietic stem cell transplantation and gene therapy have shown progress in immune reconstruction.
  • Improvements in transplantation success rates and gene therapy vector safety are noted.

Conclusions:

  • Early diagnosis through improved newborn screening is crucial for SCID prognosis.
  • Hematopoietic stem cell transplantation and gene therapy offer viable options for immune reconstitution.
  • Large-scale prospective studies are essential to validate the long-term efficacy of current SCID treatments.

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