Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT.

Weitering, T J; Willemsen, M A A P; Taylor, A M R; Weemaes, C M R; van der Burg, M; Berghuis, Dagmar

Weitering, T J; Willemsen, M A A P; Taylor, A M R; Weemaes, C M R; van der Burg, M; Berghuis, Dagmar.

Afiliação

Weitering TJ; Willem-Alexander Children's Hospital, Laboratory for Pediatric Immunology, Leiden University Medical Center, Leiden, the Netherlands.
Willemsen MAAP; Department of Neurology - Pediatric Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.
Taylor AMR; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
Weemaes CMR; Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands.
van der Burg M; Willem-Alexander Children's Hospital, Laboratory for Pediatric Immunology, Leiden University Medical Center, Leiden, the Netherlands.
Berghuis D; Willem-Alexander Children's Hospital, Department of Pediatrics, Division of Pediatric Immunology and Stem Cell Transplantation, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands. d.berghuis@lumc.nl.

J Clin Immunol ; 43(8): 1770-1773, 2023 Nov.

Article em En | MEDLINE | ID: mdl-37624468

Assuntos

Ataxia Telangiectasia; Transplante de Células-Tronco Hematopoéticas; Imunodeficiência Combinada Severa; Recém-Nascido; Humanos; Ataxia Telangiectasia/diagnóstico; Ataxia Telangiectasia/genética; Triagem Neonatal; Proteínas Mutadas de Ataxia Telangiectasia; Diagnóstico Precoce; Imunodeficiência Combinada Severa/diagnóstico

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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Ataxia Telangiectasia / Imunodeficiência Combinada Severa / Transplante de Células-Tronco Hematopoéticas Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: J Clin Immunol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Holanda

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