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. 2025 May 15;45(1):94.
doi: 10.1007/s10875-025-01887-x.

Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID

Gabriela Assunção Goebel  1 , Luciana Araújo Oliveira Cunha  2 , Fernanda Gontijo Minafra  3 , Jorge Andrade Pinto  3
Affiliations

Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID

Gabriela Assunção Goebel et al. J Clin Immunol. .

Erratum in

Abstract

Severe combined immunodeficiency (SCID) is a heterogeneous genetic disease characterized by severe T-cell lymphopenia with a profound impairment of T- and B-cells' function and, in some types, also NK cells. Hematopoietic cell transplantation (HCT) is the only curative treatment currently available in Brazil. Late diagnosis and treatment are the main factors affecting the survival of these children. This study aims to describe the demographic, phenotypic, genotypic, and clinical characteristics of twenty SCID patients (including typical SCID, leaky-SCID, and Omenn Syndrome) followed at a Brazilian referral center and correlate these data with their clinical outcome. The children were analyzed into two groups: patients diagnosed early by newborn screening (NBS) or family history, n = 7, and patients with late diagnosis, by clinical presentation, n = 13. The 2-year overall survival (OS) of the late group was 29.2%, in contrast to the 2-year OS of the early diagnosis group of 71.4% (p = 0.053). However, despite early diagnosis in the first group, timely access to HCT was delayed, with a median of 11 months. This research reveals that survival depends not only on timely diagnosis but also on early definitive treatment. To improve SCID survival rates, developing countries need public policies that allow rapid access to curative treatment for these patients.

Keywords: SCID newborn screening; Severe combined immunodeficiency; TREC; hematopoietic stem cell transplantation; infections.

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Conflict of interest statement

Declarations. Conflicts of interest: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Comparison of age at diagnosis between early and late diagnosis groups. MW: Mann–Whitney Test. Early diagnosis: by NBS or positive family history; Late diagnosis: by clinical presentation
Fig. 2
Fig. 2
Overall survival analysis. Kaplan–Meier, Log-rank Test (time in months). Early diagnosis: by NBS or positive family history; Late diagnosis: by clinical presentation. a Overall Survival of the whole group (early and late diagnosis) during Follow-up. b Comparison of Overall Survival of all patients with Early vs. all patients with Late Diagnosis. c Comparison of Overall Survival in Patients with Early vs. Late Diagnosis who had the opportunity to undergo HCT
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