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Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017

Amatuni, George S ; Currier, Robert J ; Church, Joseph A ; Bishop, Tracey ; Grimbacher, Elena ; Nguyen, Alan Anh-Chuong ; Agarwal-Hashmi, Rajni ; Aznar, Constantino P ; Butte, Manish J ; Cowan, Morton J ; Dorsey, Morna J ; Dvorak, Christopher C ; Kapoor, Neena ; Kohn, Donald B ; Markert, M Louise ; Moore, Theodore B ; Naides, Stanley J ; Sciortino, Stanley ; Feuchtbaum, Lisa ; Koupaei, Rasoul A ; Puck, Jennifer M

Pediatrics (Evanston), 2019-02, Vol.143 (2), p.1 [Periódico revisado por pares]

United States: American Academy of Pediatrics

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Título:
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017
Autor: Amatuni, George S ; Currier, Robert J ; Church, Joseph A ; Bishop, Tracey ; Grimbacher, Elena ; Nguyen, Alan Anh-Chuong ; Agarwal-Hashmi, Rajni ; Aznar, Constantino P ; Butte, Manish J ; Cowan, Morton J ; Dorsey, Morna J ; Dvorak, Christopher C ; Kapoor, Neena ; Kohn, Donald B ; Markert, M Louise ; Moore, Theodore B ; Naides, Stanley J ; Sciortino, Stanley ; Feuchtbaum, Lisa ; Koupaei, Rasoul A ; Puck, Jennifer M
Assuntos: Blood ; California - epidemiology ; Care and treatment ; Cytometry ; Demographics ; Demography ; Deoxyribonucleic acid ; DNA ; Dried Blood Spot Testing - methods ; Female ; Health aspects ; Humans ; Infant, Newborn ; Infants ; Infants (Newborn) ; Lymphocytes ; Lymphocytes T ; Lymphopenia ; Lymphopenia - blood ; Lymphopenia - diagnosis ; Lymphopenia - epidemiology ; Male ; Medical screening ; Neonatal Screening - methods ; Neonates ; Newborn babies ; Newborn infants ; Pediatric research ; Pediatrics ; Severe combined immunodeficiency ; Severe Combined Immunodeficiency - blood ; Severe Combined Immunodeficiency - diagnosis ; Severe Combined Immunodeficiency - epidemiology ; T cell lymphoma ; T cell receptors ; T-Lymphocytes - metabolism ; Thymic hypoplasia ; Thymus
É parte de: Pediatrics (Evanston), 2019-02, Vol.143 (2), p.1
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Descrição: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had DNA from dried blood spots assayed for T-cell receptor excision circles (TRECs). Abnormal TREC results were followed-up with liquid blood testing for T-cell abnormalities. We report the performance of the SCID screening program and the outcomes of infants who were identified. Data that were reviewed and analyzed included demographics, nursery summaries, TREC and lymphocyte flow-cytometry values, and available follow-up, including clinical and genetic diagnoses, treatments, and outcomes. Infants with clinically significant T-cell lymphopenia (TCL) were successfully identified at a rate of 1 in 15 300 births. Of these, 50 cases of SCID, or 1 in 65 000 births (95% confidence interval 1 in 51 000-1 in 90 000) were found. Prompt treatment led to 94% survival. Infants with non-SCID TCL were also identified, diagnosed and managed, including 4 with complete DiGeorge syndrome who received thymus transplants. Although no cases of typical SCID are known to have been missed, 2 infants with delayed-onset leaky SCID had normal neonatal TREC screens but came to clinical attention at 7 and 23 months of age. Population-based TREC testing, although unable to detect immune defects in which T cells are present at birth, is effective for identifying SCID and clinically important TCL with high sensitivity and specificity. The experience in California supports the rapid, widespread adoption of SCID newborn screening.
Editor: United States: American Academy of Pediatrics
Idioma: Inglês

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Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017

United States: American Academy of Pediatrics

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