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Case Report: A Novel IL2RG Frame-Restoring Rescue Mutation Mimics Early T Cell Engraftment Following Haploidentical Hematopoietic Stem Cell Transplantation in a Patient With X-SCID

Mutations of the interleukin 2 receptor γ chain (IL2RG) result in the most common form of severe combined immunodeficiency (SCID), which is characterized by severe and persistent infections starting in early life with an absence of T cells and natural killer cells, normal or elevated B cell counts a...

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Detalles Bibliográficos
Autores principales: Steininger, Jolanda, Leiss-Piller, Alexander, Geier, Christoph B., Rossmanith, Raphael, Elfeky, Reem, Bra, David, Pichler, Herbert, Lawitschka, Anita, Zubarovskaya, Natascha, Artacker, Gottfried, Matthes-Leodolter, Susanne, Eibl, Martha M., Wolf, Hermann M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8093767/
https://www.ncbi.nlm.nih.gov/pubmed/33959125
http://dx.doi.org/10.3389/fimmu.2021.644687