Article
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.
Frontiers in immunology - 1 Jan 2021
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
Abstract excerpt
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 and hypogammaglobulinemia. SCID is commonly fatal within the first year of life, unless the immune system is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.