Consortium outlines priorities for KREC newborn screening implementation

Proceedings from the First International KREC Consortium Meeting describe discussions on adding kappa-deleting recombination excision circle (KREC) testing to newborn screening alongside T-cell receptor excision circles to detect severe B-cell lymphopenia. The meeting, which included clinicians, laboratory scientists, public health experts, and patient families, identified priorities including justifying the assay through patient-care impact and health-economic feasibility, and, once implemented, harmonizing methods, reducing false positives, and establishing follow-up pathways. The report notes that patients with severe B-cell lymphopenia are currently typically diagnosed only after serious or recurrent infections or irreversible complications.

Most relevant for: Relevant to newborn screening programs and clinical evaluation of infants with suspected severe B-cell lymphopenia or combined immunodeficiency.

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