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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...
Autores principales: | Cuvelier, Geoffrey D.E., Rubin, Tamar S., Junker, Anne, Sinha, Roona, Rosenberg, Alan M., Wall, Donna A., Schroeder, Marlis L. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier Inc.
2019
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Materias: | |
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 |
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