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Background and AimsThe primary focus of neonatal screening is the early detection of asymptomatic infants with a range of serious diseases for which effective treatment is available and for which early diagnosis and inte...

BackgroundSevere combined immunodeficiency (SCID) is a life-threatening condition that requires urgent medical attention. Newborn screening (NBS) using the T cell receptor excision circle (TREC) assay facilitates early d...

DNA ligase IV (LIG4) is essential for repairing breaks in double-stranded DNA via nonhomologous end-joining in developing lymphocytes and is particularly important for V(D)J recombination. First described in the early 20...

IntroductionLow T cell receptor excision circles (TRECs) on newborn screen and severe T cell lymphopenia in a term newborn raise concern for severe combined immunodeficiency (SCID). Genetic polymorphisms in thiopurine me...

BackgroundT cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiency (SCID) has improved early diagnosis, treatment, and survival of SCID infants and identified additional c...

BackgroundGlucose-6-phosphate dehydrogenase (G6PD) provides the main cellular source of NADPH through the pentose phosphate pathway, supporting antioxidant defenses and metabolic programs required for hematopoietic devel...

Longitudinal profiling of 136 newborns shows thymic output peaks at 3–4 mo, correlating with plasma RANKL, lymphotoxin-α, and the TCRD variant rs2204985. In thymic tissue, RANKL tracks medullary—but not cortical—e...

Reticular dysgenesis (RD) is a rare, severe form of severe combined immunodeficiency (SCID) caused by biallelic AK2 mutations, leading to profound defects in lymphoid and myeloid maturation. Unlike other SCID phenotypes,...

BackgroundNewborn screening for severe combined immunodeficiency (SCID) using T cell receptor excision circles (TRECs) enables early detection of disorders affecting T cell development. While low TRECs typically indicate...