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

This report illustrates a case that would have been missed in the most common screening algorithms used worldwide in newborn screening (NBS) for severe combined immunodeficiency (SCID). Our patient presented with a clinical picture that suggested a severe inborn error of immunity (IEI). The 6-month-...

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Detalles Bibliográficos
Autores principales: Äng, Christofer, Zetterström, Rolf H., Ramme, Kim, Axelsen, Emma, Marits, Per, Sundin, Mikael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523557/
https://www.ncbi.nlm.nih.gov/pubmed/37771582
http://dx.doi.org/10.3389/fimmu.2023.1257581

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523557/
https://www.ncbi.nlm.nih.gov/pubmed/37771582
http://dx.doi.org/10.3389/fimmu.2023.1257581

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