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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
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  Data: Refractory infantile IPEX with Treg-restricted FOXP3null expression caused by a novel variant in FOXP3.
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  Data: <searchLink fieldCode="AU" term="%22Rayes+A%22">Rayes A</searchLink>; Pediatric Immunology and Hematopoietic Cell Transplantation/Cellular Therapy Program, Primary Children's Hospital, University of Utah, Salt Lake City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Ramachandran+A%22">Ramachandran A</searchLink>; Division of Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Pulsipher+MA%22">Pulsipher MA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Dolan+JG%22">Dolan JG</searchLink>; Pediatric Immunology and Hematopoietic Cell Transplantation/Cellular Therapy Program, Primary Children's Hospital, University of Utah, Salt Lake City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Cho+S%22">Cho S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Johnson+AK%22">Johnson AK</searchLink>; Pediatric Immunology and Hematopoietic Cell Transplantation/Cellular Therapy Program, Primary Children's Hospital, University of Utah, Salt Lake City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Alexander+JL%22">Alexander JL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Borna+S%22">Borna S</searchLink>; Division of Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Bacchetta+R%22">Bacchetta R</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229919054337406676%22">Journal of human immunity</searchLink> [J Hum Immun] 2026 Mar 27; Vol. 2 (3), pp. e20250249. <i>Date of Electronic Publication: </i>2026 Mar 27 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Rockefeller+University+Press%22">Rockefeller University Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9919054337406676 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>3065-8993 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2230658993%22">30658993 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Immun <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.70962/jhi.20250249
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        Text: English
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              Text: 2026 Mar 27
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