Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)

Frontiers in Pediatrics

article

Mirjam van der Burg¹  Nizar Mahlaoui²  Hubert Bobby Gaspar³  Sung-Yun Pai⁴ 

[1] Laboratory for Immunology, Department of Pediatrics, Leiden University Medical Center;Centre de Référence Déficits Immunitaires Héréditaires, Hôpital Universitaire Necker-Enfants Malades;UCL Great Ormond Street Institute of Child Health, United Kingdom;Division of Hematology-Oncology, Department of Pediatrics, Boston Children's Hospital, United States;Department of Pediatric Oncology, Dana-Farber Cancer Institute, United States;Department of Pediatrics, Harvard Medical School, United States

关键词: severe combined immunodeficiency;    T lymphocytes;    newborn screening;    allogeneic hematopoietic stem cell transplantation;    public health;   

DOI  :  10.3389/fped.2019.00373

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Patients with severe combined immunodeficiency (SCID) are born with profound deficiency of functional T-lymphocytes. Early detection and diagnosis would allow for prompt institution of isolation from infection and referral for definitive treatment with allogeneic hematopoietic stem cell transplantation. Universal newborn screening for SCID, using an assay to detect T-cell receptor excision circles (TREC) in dried blood spots (DBS), is now being performed in all states in the United States. In this review, we discuss the development and outcomes of TREC screening, and continued challenges to implementation.

【 授权许可】

CC BY