Carlota C. Ruigómez-Martín

Pitfalls and diagnostic challenges in TRECS-based newborn screening for Artemis, FOXN1 and Moesin deficiencies

Newborn screening (NBS) based on T-cell receptor excision circles (TRECs) has revolutionized the early diagnosis of severe combined immunodeficiency (SCID), facilitating the identification of affected newborns before the onset of life-threatening infections. However, reduced TRECs levels are a surrogate marker of impai...