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.
Immunological features of neuroblastoma amplified sequence deficiency: Report of the first case identified through newborn screening for primary immunodeficiency and review of the literature / Ricci S.; Lodi L.; Serranti D.; Moroni M.; Belli G.; Mancano G.; Barbera A.L.; Forzano G.; Mangone G.; Indolfi G.; Azzari C.. - In: FRONTIERS IN IMMUNOLOGY. - ISSN 1664-3224. - ELETTRONICO. - 10:(2019), pp. 0-0. [10.3389/fimmu.2019.01955]
Immunological features of neuroblastoma amplified sequence deficiency: Report of the first case identified through newborn screening for primary immunodeficiency and review of the literature
Ricci S.
;Lodi L.;Serranti D.;Belli G.;FORZANO, GIULIA MARIA ANGELA;Mangone G.;Indolfi G.;Azzari C.
2019
Abstract
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.
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