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Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels.
Äng, Christofer; Zetterström, Rolf H; Ramme, Kim; Axelsen, Emma; Marits, Per; Sundin, Mikael.
  • Äng C; Sachs Children's Hospital, Södersjukhuset, Stockholm, Sweden.
  • Zetterström RH; Division of Pediatrics, Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.
  • Ramme K; Center for Inherited Metabolic Diseases, Medical Diagnostics Center, Karolinska University Hospital, Stockholm, Sweden.
  • Axelsen E; Division of Inborn Errors of Endocrinology and Metabolism, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Marits P; Department of Pediatric Hematology and Oncology, Children's Hospital, Uppsala University Hospital, Uppsala, Sweden.
  • Sundin M; Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.
Front Immunol ; 14: 1257581, 2023.
Article en En | MEDLINE | ID: mdl-37771582
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans / Infant / Newborn Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans / Infant / Newborn Idioma: En Año: 2023 Tipo del documento: Article