Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant in FOXP3.

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Title: Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant in FOXP3.
Authors: Rayes A; Pediatric Immunology and Hematopoietic Cell Transplantation/Cellular Therapy Program, Primary Children's Hospital, University of Utah, Salt Lake City, UT, USA., Ramachandran A; Division of Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University, Stanford, CA, USA., Pulsipher MA; Pediatric Immunology and Hematopoietic Cell Transplantation/Cellular Therapy Program, Primary Children's Hospital, University of Utah, Salt Lake City, UT, USA.; Huntsman Cancer Institute, Spencer Fox Eccles School of Medicine at the University of Utah, Salt Lake City, UT, USA., Dolan JG; Pediatric Immunology and Hematopoietic Cell Transplantation/Cellular Therapy Program, Primary Children's Hospital, University of Utah, Salt Lake City, UT, USA., Cho S; Pediatric Immunology and Hematopoietic Cell Transplantation/Cellular Therapy Program, Primary Children's Hospital, University of Utah, Salt Lake City, UT, USA.; Huntsman Cancer Institute, Spencer Fox Eccles School of Medicine at the University of Utah, Salt Lake City, UT, USA., Johnson AK; Pediatric Immunology and Hematopoietic Cell Transplantation/Cellular Therapy Program, Primary Children's Hospital, University of Utah, Salt Lake City, UT, USA., Alexander JL; Division of Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University, Stanford, CA, USA.; Center for Definitive and Curative Medicine, Stanford University, Stanford, CA, USA., Borna S; Division of Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University, Stanford, CA, USA., Bacchetta R; Division of Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University, Stanford, CA, USA.; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University, Stanford, CA, USA.; Center for Definitive and Curative Medicine, Stanford University, Stanford, CA, USA.
Source: Journal of human immunity [J Hum Immun] 2026 Mar 27; Vol. 2 (3), pp. e20250249. Date of Electronic Publication: 2026 Mar 27 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 9919054337406676 Publication Model: eCollection Cited Medium: Internet ISSN: 3065-8993 (Electronic) Linking ISSN: 30658993 NLM ISO Abbreviation: J Hum Immun Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:3065-8993
DOI:10.70962/jhi.20250249