Related Experiment Video
Updated: Jun 14, 2025
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID
Gabriela Assunção Goebel1, Luciana Araújo Oliveira Cunha2, Fernanda Gontijo Minafra3
1Hospital das Clínicas da Universidade Federal de Minas Gerais, Av. Professor Alfredo Balena, 110, Belo Horizonte, Minas Gerais, 30.130-100, Brazil. gabi_goebel@hotmail.com.
Insights
Early diagnosis of Severe Combined Immunodeficiency (SCID) improves survival, but timely Hematopoietic Cell Transplantation (HCT) is crucial. Developing countries need policies for rapid SCID treatment access to save lives.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Severe Combined Immunodeficiency (SCID) is a group of rare genetic disorders affecting T- and B-cell function.
- Hematopoietic Cell Transplantation (HCT) is the only cure for SCID.
- Late diagnosis and treatment significantly impact survival rates in SCID patients.
Purpose of the Study:
- To analyze the demographic, phenotypic, genotypic, and clinical features of 20 SCID patients in Brazil.
- To correlate patient characteristics with clinical outcomes.
- To evaluate the impact of early diagnosis versus late diagnosis on SCID survival.
Main Methods:
- Retrospective analysis of 20 SCID patients (typical SCID, leaky-SCID, Omenn Syndrome).
- Patients categorized into early diagnosis (n=7) and late diagnosis (n=13) groups.
- Comparison of 2-year overall survival (OS) between the two groups.
Main Results:
- The early diagnosis group had a 2-year OS of 71.4%, compared to 29.2% in the late diagnosis group (p=0.053).
- Despite early diagnosis, HCT access was delayed by a median of 11 months in the early group.
- Survival is dependent on both timely diagnosis and prompt curative treatment.
Conclusions:
- Early SCID diagnosis is critical but insufficient for survival without timely HCT.
- Developing countries require public health policies to ensure rapid access to curative SCID treatments.
- Improving SCID survival necessitates a dual focus on early detection and swift treatment initiation.
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.
Related Concept Videos
01:25Immunodeficiency Diseases
There are three main causes of immunodeficiency...
01:22iPS Cell Differentiation