The successful inclusion of ADA SCID in Tuscany expanded newborn screening program

Sabrina Malvagia; Silvia Funghini; Maria Della Bona; Daniela Ombrone; Massimo Mura; Roberta Damiano; Silvia Ricci; Martina Cortimiglia; Chiara Azzari; Giancarlo la Marca

doi:10.1515/cclm-2021-0307

The successful inclusion of ADA SCID in Tuscany expanded newborn screening program

Clin Chem Lab Med. 2021 May 6;59(10):e401-e404. doi: 10.1515/cclm-2021-0307. Print 2021 Sep 27.

Authors

Affiliations

¹ Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, Florence, Italy.
² Immunology Unit, Meyer Children's University Hospital, Florence, Italy.
³ Department of Health Sciences, University of Florence, Florence, Italy.
⁴ Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.

PMID: 33951760
DOI: 10.1515/cclm-2021-0307

No abstract available

Keywords: T-cell receptor excision circles (TREC); adenosine deaminase (ADA); kappa-deleting excision circles (KREC); newborn screening; severe combined immunodeficiency (SCID); tandem mass spectrometry.

Publication types

Letter

MeSH terms

Adenosine Deaminase* / deficiency
Humans
Infant, Newborn
Italy
Neonatal Screening*
Receptors, Antigen, T-Cell
Severe Combined Immunodeficiency* / diagnosis

Substances

Receptors, Antigen, T-Cell
Adenosine Deaminase