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SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience

Lucila Akune Barreiros1, Jusley Lira Sousa1, Christoph Geier2

  • 1Laboratory of Human Immunology, Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, 1730, Av. Professor Lineu Prestes, Sao Paulo, SP, 05508-000, Brazil.

Journal of Clinical Immunology
|May 3, 2022
PubMed

Insights

Severe combined immunodeficiency (SCID) is a critical pediatric emergency. Early diagnosis and treatment are vital, as delays significantly reduce survival rates and treatment success in Brazilian patients.

Area of Science:

  • Immunology
  • Pediatrics
  • Genetics

Background:

  • Severe combined immunodeficiency (SCID) is a life-threatening pediatric emergency caused by absent or non-functional T cells.
  • Infants with SCID often appear healthy at birth, necessitating newborn screening (NBS) for early detection before severe infections occur.
  • Delayed diagnosis and treatment in Brazil lead to poor outcomes, highlighting the need for improved screening and medical education.

Purpose of the Study:

  • To report on 47 Brazilian patients investigated for SCID between 2009 and 2020.
  • To analyze diagnostic delays, treatment outcomes, and survival rates in SCID patients in Brazil.
  • To assess the impact of improved medical education and advocate for universal NBS-SCID implementation.

Main Methods:

  • Retrospective analysis of 47 Brazilian patients with suspected SCID based on clinical presentation, family history, or low TRECs.
  • Clinical and laboratory findings, genetic testing, and treatment outcomes were reviewed.
  • Survival rates and the success of hematopoietic stem-cell transplantation were evaluated.

Main Results:

  • 24 typical SCID, 14 leaky SCID, and 6 Omenn syndrome cases were diagnosed among the 47 patients.
  • Median age at onset was 2 months, but diagnosis and treatment were delayed to 6.5 and 11.5 months, respectively.
  • Overall survival was 51.1%, with only 66.7% undergoing transplantation, which was successful in 70% of those cases. Genetic testing success rate was 65.1%.

Conclusions:

  • Significant diagnostic and treatment delays impact SCID patient survival in Brazil.
  • Improved medical education has aided SCID diagnosis, but an estimated 80% of cases remain missed.
  • Universal NBS-SCID implementation, starting in São Paulo, is crucial for early diagnosis and improved survival rates for SCID patients in Brazil.

Keywords:
Inborn errors of immunityNewborn screeningPrimary immunodeficiencySCIDSevere combined immunodeficiencyTRECs

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