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[Newborn screening for severe T and B lymphocyte deficiencies in Switzerland]
Athina Fouriki1, Caroline Schnider1, Katerina Theodoropoulou1
1Unité d'immunologie, allergologie et rhumatologie pédiatrique, Service de pédiatrie, Département femme-mère-enfant, CHUV, 1011 Lausanne.
Insights
Newborn screening for Severe Combined Immunodeficiency (SCID) using T-cell receptor excision circles (TREC) and kappa recombinant excision circles (KREC) aids early diagnosis. This improves patient outcomes for primary immunodeficiencies (PID).
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Severe Combined Immunodeficiency (SCID) is a life-threatening primary immunodeficiency requiring early intervention.
- Timely management significantly improves survival and patient outcomes in SCID cases.
Purpose of the Study:
- To evaluate the implementation of newborn screening (NBS) for SCID in Switzerland.
- To assess the combined use of T-cell receptor excision circles (TREC) and kappa recombinant excision circles (KREC) for PID detection.
Main Methods:
- Introduction of a pilot NBS program in Switzerland in January 2019.
- Measurement of TRECs and KRECs in newborns for SCID and other primary immunodeficiencies.
Main Results:
- The NBS program successfully integrated TREC and KREC measurements.
- This dual-marker approach allows for the identification of SCID and B cell lymphopenia.
Conclusions:
- Newborn screening for SCID using TREC and KREC is effective for early detection of primary immunodeficiencies.
- This screening strategy enhances the management and prognosis of infants with severe PIDs.
Abstract:
Severe Combined Immunodeficiency (SCID) is one of the most severe forms of Primary Immunodeficiencies (PID) and leads to a potentially fatal course of disease without early and definitive treatment. Adequate management, from the first days of life, can improve the survival and outcome of patients with SCID. This can be achieved through newborn screening (NBS) based on the measurement of T-cell receptor excision circles (TREC). Already present in many countries, this NBS test was introduced in Switzerland in January 2019 on a pilot phase. In addition to the assessment of TRECs, the measurement of kappa recombinant excision circles (KREC) has also been introduced at the same time and allows the identification of severe forms of PID characterized by profound B cell lymphopenia.
