SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain).

Cohort studyFrontiers in immunology· 2026

SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain).

Ana Argudo-Ramírez, Andrea Martín-Nalda, Javier Laguna … Pere Soler-Palacín

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Biochemical GeneticsCohort studyDiagnosisQ1IF 6.4

Newborn screening for severe combined immunodeficiency achieved 88% survival after early treatment.

SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain).

Ana Argudo-Ramírez … Pere Soler-Palacín

Frontiers in immunology · 2026

Purpose

Severe combined immunodeficiency (severe combined immunodeficiency) can be detected at birth through T-cell receptor excision circles (TREC) analysis in dried blood spots.

Methods

Newborns were screened for severe combined immunodeficiency using the EnLite Neonatal TREC assay (cut-off: 20 copies/μL), with confirmatory immunological and genetic testing performed in screen-positive cases.

n = 3

88%

Results

88%

nearly all infants treated early survived

n = 3

More results

Among 420,263 screened newborns, 105 screened positive (0.02%).

Severe combined immunodeficiency was diagnosed in eight infants and congenital athymia in one, corresponding to an overall incidence of 1:46,753 live births.

More results

Identified genetic defects included RAG2 (n=3), PNP (n=1), IL2RG (n=2), DCLRE1C (n=1), and FOXI3 (n=1) (one case remained genetically undefined).

Median age at diagnosis was 9 days and median age at initiation of definitive therapy was 3 months.

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Conclusion · 1 of 3

The Catalonian severe combined immunodeficiency newborn screening program demonstrated high clinical effectiveness, enabling early definitive treatment and excellent survival outcomes with a low false-positive burden.

Conclusion · 2 of 3

In addition, systematic follow-up of non-severe combined immunodeficiency T-cell lymphopenia identified through severe combined immunodeficiency screening appears warranted.

Conclusion · 3 of 3

These findings support the sustainability and clinical value of universal severe combined immunodeficiency screening programs.

SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain).

SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain).

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