Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency.

Blom, Maartje; Pico-Knijnenburg, Ingrid; Imholz, Sandra; Vissers, Lotte; Schulze, Janika; Werner, Jeannette; Bredius, Robbert; van der Burg, Mirjam

Blom, Maartje; Pico-Knijnenburg, Ingrid; Imholz, Sandra; Vissers, Lotte; Schulze, Janika; Werner, Jeannette; Bredius, Robbert; van der Burg, Mirjam.

Afiliação

Blom M; Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands.
Pico-Knijnenburg I; Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands.
Imholz S; Centre for Health Protection, National Institute for Public Health and the Environment, Bilthoven, the Netherlands.
Vissers L; Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands.
Schulze J; Department of Research and Development, Epimune GmbH, Belin, Germany.
Werner J; Department of Research and Development, Epimune GmbH, Belin, Germany.
Bredius R; Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands.
van der Burg M; Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands. m.van_der_burg@lumc.nl.

J Clin Immunol ; 41(8): 1762-1773, 2021 11.

Article em En | MEDLINE | ID: mdl-34370170

Assuntos

Imunodeficiência Combinada Severa/diagnóstico; Algoritmos; Reações Falso-Positivas; Humanos; Recém-Nascido; Triagem Neonatal; Receptores de Antígenos de Linfócitos T/genética; Receptores de Antígenos de Linfócitos T/imunologia; Imunodeficiência Combinada Severa/genética; Imunodeficiência Combinada Severa/imunologia

Palavras-chave

Epigenetic immune cell counting; Inborn errors of immunity; NGS; Newborn screening; Next-generation sequencing; SCID; Second tier; Severe combined immunodeficiency; TRECs

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Imunodeficiência Combinada Severa Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: J Clin Immunol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda

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