Case Report: Sustained immune and pulmonary recovery three years after hematopoietic stem cell transplantation for ITCH E3 ubiquitin ligase deficiency.

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Title: Case Report: Sustained immune and pulmonary recovery three years after hematopoietic stem cell transplantation for ITCH E3 ubiquitin ligase deficiency.
Authors: Ashe B; Division of Pediatric Rheumatology, Department of Pediatrics, University of Pittsburgh Medical Center (UPMC) Children's Hospital of Pittsburgh, Pittsburgh, PA, United States., Neal E; University of Pittsburgh School of Medicine, Pittsburgh, PA, United States., Kurland G; Division of Pediatric Pulmonology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States., Chong H; Division of Allergy and Immunology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States., Lacomis D; Departments of Neurology and Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, United States., Olup D; Independent Researcher, Pittsburgh, PA, United States., Olup E; Patient Author, Pittsburgh, PA, United States., Ghaloul-Gonzalez L; Division of Genetics and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States., Rudolph J; Division of Pediatric Gastroenterology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States., Hogue N; Divison of Blood and Marrow Transplantation, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States., Maurer SH; Divisions of Pediatric Hematology and Oncology, and Palliative Medicine and Supportive Care, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States., Zitelli B; Division of Pediatric Hospital Medicine (Emeritus), Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States., Szabolcs P; Divison of Blood and Marrow Transplantation, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States., Torok KS; Division of Pediatric Rheumatology, Department of Pediatrics, University of Pittsburgh Medical Center (UPMC) Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.
Source: Frontiers in immunology [Front Immunol] 2026 May 01; Vol. 17, pp. 1805196. Date of Electronic Publication: 2026 May 01 (Print Publication: 2026).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Case Report: Sustained immune and pulmonary recovery three years after hematopoietic stem cell transplantation for ITCH E3 ubiquitin ligase deficiency.
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  Data: <searchLink fieldCode="AU" term="%22Ashe+B%22">Ashe B</searchLink>; Division of Pediatric Rheumatology, Department of Pediatrics, University of Pittsburgh Medical Center (UPMC) Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.<br /><searchLink fieldCode="AU" term="%22Neal+E%22">Neal E</searchLink>; University of Pittsburgh School of Medicine, Pittsburgh, PA, United States.<br /><searchLink fieldCode="AU" term="%22Kurland+G%22">Kurland G</searchLink>; Division of Pediatric Pulmonology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.<br /><searchLink fieldCode="AU" term="%22Chong+H%22">Chong H</searchLink>; Division of Allergy and Immunology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.<br /><searchLink fieldCode="AU" term="%22Lacomis+D%22">Lacomis D</searchLink>; Departments of Neurology and Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, United States.<br /><searchLink fieldCode="AU" term="%22Olup+D%22">Olup D</searchLink>; Independent Researcher, Pittsburgh, PA, United States.<br /><searchLink fieldCode="AU" term="%22Olup+E%22">Olup E</searchLink>; Patient Author, Pittsburgh, PA, United States.<br /><searchLink fieldCode="AU" term="%22Ghaloul-Gonzalez+L%22">Ghaloul-Gonzalez L</searchLink>; Division of Genetics and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.<br /><searchLink fieldCode="AU" term="%22Rudolph+J%22">Rudolph J</searchLink>; Division of Pediatric Gastroenterology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.<br /><searchLink fieldCode="AU" term="%22Hogue+N%22">Hogue N</searchLink>; Divison of Blood and Marrow Transplantation, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.<br /><searchLink fieldCode="AU" term="%22Maurer+SH%22">Maurer SH</searchLink>; Divisions of Pediatric Hematology and Oncology, and Palliative Medicine and Supportive Care, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.<br /><searchLink fieldCode="AU" term="%22Zitelli+B%22">Zitelli B</searchLink>; Division of Pediatric Hospital Medicine (Emeritus), Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.<br /><searchLink fieldCode="AU" term="%22Szabolcs+P%22">Szabolcs P</searchLink>; Divison of Blood and Marrow Transplantation, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.<br /><searchLink fieldCode="AU" term="%22Torok+KS%22">Torok KS</searchLink>; Division of Pediatric Rheumatology, Department of Pediatrics, University of Pittsburgh Medical Center (UPMC) Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.
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