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Haploidentical Transplant in Radiosensitive Severe Combined Immunodeficiency Disease

Severe combined immunodeficiency (SCID) is an inborn error of immunity invariably resulting in mortality in infancy until managed by hematopoietic stem cell transplant (HSCT). We present an unusual case of SCID with a rare mutation involving the non-homologous end-joining 1 (NHEJ1) gene, where a hap...

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Detalles Bibliográficos
Autores principales: Saini, Manpreet, Khadwal, Alka R, Roy, Sayan S, Pandiarajan, Vignesh, Malhotra, Pankaj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10572685/
https://www.ncbi.nlm.nih.gov/pubmed/37842439
http://dx.doi.org/10.7759/cureus.45159