Immunological features of neuroblastoma amplified sequence deficiency: Report of the first case identified through newborn screening for primary immunodeficiency and review of the literature

In this paper, we report the first case of NBAS deficiency identified in the context of a newborn screening (NBS) program for primary immunodeficiencies (PIDs) with κ-deleting recombination excision circles (KRECs) quantification on dried blood spot. We also focus on the immunological spectrum of the disease with a review of immunological cases in the literature.