How I Treat Primary Immune Deficiencies with Hematopoietic Stem Cell Transplantation

Primary immune deficiencies (PID), or more recently, inborn errors of immunity (IEI), resulting from genetic defects of the immune system may present with increased susceptibility to infections, persistent inflammation, and autoimmunity. With recent introduction of next generation sequencing, the nu...

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Main Authors: Hoon Kook, Boram Kim, Hee Jo Baek
Format: Article
Language:English
Published: The Korean Society of Pediatric Hematology-Oncology 2022-10-01
Series:Clinical Pediatric Hematology-Oncology
Subjects:
Online Access:https://doi.org/10.15264/cpho.2022.29.2.35
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author Hoon Kook
Boram Kim
Hee Jo Baek
author_facet Hoon Kook
Boram Kim
Hee Jo Baek
author_sort Hoon Kook
collection DOAJ
description Primary immune deficiencies (PID), or more recently, inborn errors of immunity (IEI), resulting from genetic defects of the immune system may present with increased susceptibility to infections, persistent inflammation, and autoimmunity. With recent introduction of next generation sequencing, the number of IEIs increases rapidly, reaching to 484 in 2022. Hematopoietic stem cell transplantation (HSCT) has been used over decades as a mainstay of specific treatment modality, while gene therapy and pharmacologic approach have been attempted with promising results in some PID in recent years. The survival following allogeneic HSCT for PID is now generally >80%. The indication and timing of transplant must be individualized not only on the basis of the specific PID but also on the characteristics of the individual patient. For the successful transplant outcome, the choice of donor and the optimal pretransplant conditioning regimen is important. This article will discuss current status and recommendations from specialists in HSCT for some representative PID, including severe combined immunodeficiency (SCID), CD40 ligand or CD40 deficiency, Wiskott-Aldrich syndrome, hemophagocytic lymphohistiocytosis, and chronic granulomatous disease, along with our personal experience of PID treatment in Korea.
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spelling doaj.art-959429d2b4284a2abd472395dddc08d72022-12-22T02:26:51ZengThe Korean Society of Pediatric Hematology-OncologyClinical Pediatric Hematology-Oncology2233-52502022-10-01292354310.15264/cpho.2022.29.2.35cpho.2022.29.2.35How I Treat Primary Immune Deficiencies with Hematopoietic Stem Cell TransplantationHoon Kook0Boram Kim1Hee Jo Baek2Department of Pediatrics, Chonnam National University Medical School, Gwangju, KoreaDepartment of Pediatrics, Chonnam National University Hwasun Hospital, Hwasun, KoreaDepartment of Pediatrics, Chonnam National University Medical School, Gwangju, KoreaPrimary immune deficiencies (PID), or more recently, inborn errors of immunity (IEI), resulting from genetic defects of the immune system may present with increased susceptibility to infections, persistent inflammation, and autoimmunity. With recent introduction of next generation sequencing, the number of IEIs increases rapidly, reaching to 484 in 2022. Hematopoietic stem cell transplantation (HSCT) has been used over decades as a mainstay of specific treatment modality, while gene therapy and pharmacologic approach have been attempted with promising results in some PID in recent years. The survival following allogeneic HSCT for PID is now generally >80%. The indication and timing of transplant must be individualized not only on the basis of the specific PID but also on the characteristics of the individual patient. For the successful transplant outcome, the choice of donor and the optimal pretransplant conditioning regimen is important. This article will discuss current status and recommendations from specialists in HSCT for some representative PID, including severe combined immunodeficiency (SCID), CD40 ligand or CD40 deficiency, Wiskott-Aldrich syndrome, hemophagocytic lymphohistiocytosis, and chronic granulomatous disease, along with our personal experience of PID treatment in Korea.https://doi.org/10.15264/cpho.2022.29.2.35primary immunodeficiencyinborn errors of immunitynext generation sequencinghematopoietic stem cell transplantation
spellingShingle Hoon Kook
Boram Kim
Hee Jo Baek
How I Treat Primary Immune Deficiencies with Hematopoietic Stem Cell Transplantation
Clinical Pediatric Hematology-Oncology
primary immunodeficiency
inborn errors of immunity
next generation sequencing
hematopoietic stem cell transplantation
title How I Treat Primary Immune Deficiencies with Hematopoietic Stem Cell Transplantation
title_full How I Treat Primary Immune Deficiencies with Hematopoietic Stem Cell Transplantation
title_fullStr How I Treat Primary Immune Deficiencies with Hematopoietic Stem Cell Transplantation
title_full_unstemmed How I Treat Primary Immune Deficiencies with Hematopoietic Stem Cell Transplantation
title_short How I Treat Primary Immune Deficiencies with Hematopoietic Stem Cell Transplantation
title_sort how i treat primary immune deficiencies with hematopoietic stem cell transplantation
topic primary immunodeficiency
inborn errors of immunity
next generation sequencing
hematopoietic stem cell transplantation
url https://doi.org/10.15264/cpho.2022.29.2.35
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