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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Immunology
Subjects:
severe combined immunodeficiency
X-SCID
IL2RG
somatic mosaicism
early engraftment
second-site mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.644687/full

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