Clinical presentation, immunologic features, and hematopoietic stem cell transplant outcomes for IKBKB immune deficiency

IKBKB immune deficiency is a rare but life-threatening primary immunodeficiency disorder, involving activation defects in adaptive and innate immunity. We present sixteen cases of a homozygous IKBKB mutation (c.1292dupG) in infants characterized by early-onset bacterial, viral, fungal and Mycobacter...

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Detalles Bibliográficos
Autores principales: Cuvelier, Geoffrey D.E., Rubin, Tamar S., Junker, Anne, Sinha, Roona, Rosenberg, Alan M., Wall, Donna A., Schroeder, Marlis L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Inc. 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106064/
https://www.ncbi.nlm.nih.gov/pubmed/30391351
http://dx.doi.org/10.1016/j.clim.2018.10.019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106064/
https://www.ncbi.nlm.nih.gov/pubmed/30391351
http://dx.doi.org/10.1016/j.clim.2018.10.019

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