Translational and clinical immunologyRecommendations for uniform definitions used in newborn screening for severe combined immunodeficiency
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Key words
Newborn screening
neonatal screening
severe combined immunodeficiency terminology
case definitions
T-cell receptor excisions circles
Abbreviations used
APHL
Association of Public Health Laboratories
CLSI
Clinical and Laboratory Standards Institute
DBS
Dried blood spot
ESID
European Society for Immunodeficiencies
HSCT
Hematopoietic stem cell transplantation
IDF
Immune Deficiency Foundation
IEI
Inborn errors of immunity
IUIS
International Union of Immunological Societies
NBS
Newborn screening
PIDTC
Primary Immune Deficiency Treatment Consortium
PPV
Positive predictive value
SCID
Severe combined immunodeficiency
TREC
T-cell receptor excision circle
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Supported by the Netherlands Organisation for Health Research (M.B.) and Development ZonMw (SONNET study, project 543002002 [M.B.]).
Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest.
© 2021 The Authors. Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology.