Jolanda Steininger Alexander Leiss-Piller Christoph B Geier Raphael Rossmanith Reem Elfeky David Bra Herbert Pichler Anita Lawitschka Natascha Zubarovskaya Gottfried Artacker Susanne Matthes-Leodolter Martha M Eibl Hermann M Wolf
10.3389/fimmu.2021.644687
Front Immunol
2021 Apr 20;12:644687.
il2rg x-scid early engraftment hematopoietic stem cell transplantation second-site mutation severe combined immunodeficiency somatic mosaicism
CC BY
https://pubmed.ncbi.nlm.nih.gov/33959125/
CD4-Positive T-Lymphocytes / immunology CD8-Positive T-Lymphocytes / immunology Hematopoietic Stem Cell Transplantation Mutation X-Linked Combined Immunodeficiency Diseases / genetics X-Linked Combined Immunodeficiency Diseases / immunology X-Linked Combined Immunodeficiency Diseases / therapy
CD4-Positive T-Lymphocytes / immunology CD8-Positive T-Lymphocytes / immunology Hematopoietic Stem Cell Transplantation Mutation X-Linked Combined Immunodeficiency Diseases / genetics X-Linked Combined Immunodeficiency Diseases / immunology X-Linked Combined Immunodeficiency Diseases / therapy Case Reports Allografts Humans Infant Interleukin Receptor Common gamma Subunit / genetics Interleukin Receptor Common gamma Subunit / immunology Male IL2RG protein, human Interleukin Receptor Common gamma Subunit
PMC8093767
33959125
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
2021