Newborn screening for severe combined immunodeficiency: feasibility, opportunities, and perspectives

Abstract

Newborn screening is reasonable for rare conditions that cause serious health problems that are not defined by standard clinical examination but have effective methods of correction, and for which early diagnosis and treatment are important to achieve a positive result. Severe combined immunodeficiency (SCID) is a group of primary immunodeficiencies (PID) characterized by severe T- and/or B-lymphopenia. Patients with SCID are usually born without clinical signs of the disease, but in the first year of life, most often in the first months, the disease manifests itself in severe infections. Without timely diagnosis and adequate treatment, the disease is fatal. T-cell receptor excision circle (TREC) assay has been developed and implemented for detecting T-cell lymphopenia and screening for SCID. In recent years, the kappa-deleting recombination excision circle (KREC) assay has been used to detect B-cell lymphopenia. The article analyzes studies that reflect data on both population-based programs of newborn screening for SCID and pilot studies. Based on the literature data, other PIDs, as well as other conditions with T- and/or B-lymphopenia have been identified that can be diagnosed using the TREC/KREC assay. The issues of cost-effectiveness/benefits of newborn screening for SCID, possibilities of its implementation in Ukraine, perspective methods of early PID diagnosis were considered. It was determined that newborn screening for SCID based on TREC or TREC/KREC assay for determination of T- and B-lymphopenia allows early identification of combined primary immunodeficiencies, especially severe ones, to use protective measures to prevent infections, their adequate treatment, save children’s lives and improve their quality of life. A pilot study will justify the clinical and economic feasibility for the implementation of population-based newborn screening for SCID in Ukraine.

Keywords

• severe combined immunodeficiencies
• newborn screening
• trec
• krec
• review