ArticleRevista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCIES USING TRECS AND KRECS: SECOND PILOT STUDY IN BRAZIL.
Article in Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 33 citations in OpenAlex.
- Newborn screening for severe combined immunodeficiency in the NHS newborn blood spot screening programme: a systematic review.Health technology assessment (Winchester, England) · 2026Pooled it
- Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.The Journal of allergy and clinical immunology · 2022Pooled it
- Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia.Journal of clinical immunology · 2025Article
- 13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.International journal of molecular sciences · 2025Article
- Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID.Journal of clinical immunology · 2025Article
- First pilot study for newborn screening of severe T and B lymphopenias in ColombiaBiomedica : revista del Instituto Nacional de Salud · 2024Article
- Case report: A novelFrontiers in immunology · 2024Article
- Importance of TREC and KREC as molecular markers for immunological evaluation of down syndrome children.Scientific reports · 2023Article
- SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.Journal of clinical immunology · 2022Article
- Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.Frontiers in immunology · 2022Article
- Future Perspectives of Newborn Screening for Inborn Errors of Immunity.International journal of neonatal screening · 2021Review
- Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency.Journal of clinical immunology · 2021Article
- First Year of TREC-Based National SCID Screening in Sweden.International journal of neonatal screening · 2021Article
- Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles.International journal of neonatal screening · 2021Article
- Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?International journal of neonatal screening · 2021Article
- Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.Journal of clinical immunology · 2021Article
- Multiplex PCR-Based Newborn Screening for Severe T and B-Cell Lymphopenia: The first Pilot Study in Turkey.Sisli Etfal Hastanesi tip bulteni · 2021Article
- Translating Molecular Technologies into Routine Newborn Screening Practice.International journal of neonatal screening · 2020Review
- Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.Frontiers in immunology · 2020Article
- Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries.Journal of clinical immunology · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 11 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo validate the quantification of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) by real-time polymerase chain reaction (qRT-PCR) for newborn screening of primary immunodeficiencies with defects in T and/or B cells in Brazil.
methodsBlood samples from newborns and controls were collected on filter paper. DNA was extracted and TRECs, and KRECs were quantified by a duplex real-time PCR. The cutoff values were determined by receiver operating characteristic curve analysis using SPSS software (IBM®, Armonk, NY, USA).
resultsAround 6,881 samples from newborns were collected and TRECs and KRECs were quantified. The TRECs values ranged between 1 and 1,006 TRECs/µL, with mean and median of 160 and 139 TRECs/µL, respectively. Three samples from patients with severe combined immunodeficiency (SCID) showed TRECs below 4/µL and a patient with DiGeorge syndrome showed undetectable TRECs. KRECs values ranged from 10 to 1,097 KRECs/µL, with mean and median of 130 and 108 KRECs/µL. Four patients with agammaglobulinemia had results below 4 KRECs/µL. The cutoff values were 15 TRECs/µL and 14 KRECs/µL and were established according to the receiver operating characteristic curve analysis, with 100% sensitivity for SCID and agammaglobulinemia detection, respectively.
conclusionsQuantification of TRECs and KRECs was able to diagnose children with T- and/or B-cell lymphopenia in our study, which validated the technique in Brazil and enabled us to implement the newborn screening program for SCID and agammaglobulinemia.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.