GATA2 deficiency detected by newborn screening for SCID: A case report

The early diagnosis and treatment of inborn errors of immunity (IEI) is crucial in reducing the morbidity and mortality due to these disorders. The institution of newborn screening (NBS) for the diagnosis of Severe Combined Immune Deficiency (SCID) has decreased the mortality of this disorder and le...

Descripción completa

Detalles Bibliográficos
Autores principales: Escobar Vasco, Alejandra, Broglie, Larisa, Talano, Julie-An, Routes, John, Verbsky, James, Remiker, Allison
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9886089/
https://www.ncbi.nlm.nih.gov/pubmed/36726998
http://dx.doi.org/10.3389/fped.2022.1031106

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9886089/
https://www.ncbi.nlm.nih.gov/pubmed/36726998
http://dx.doi.org/10.3389/fped.2022.1031106

Ejemplares similares