Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders

Frontiers in Pediatrics

article

Shahrzad Bakhtiar¹  Julia Fekadu¹  Markus G. Seidel²  Eleonora Gambineri³ 

[1] Division for Pediatric Stem Cell Transplantation and Immunology, University Hospital Frankfurt;Research Unit for Pediatric Hematology and Immunology, Division of Pediatric Hematology-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University Graz;NEUROFARBA Department, University of Florence, University of Florence;Haematology-Oncology Department, Anna Meyer Children's Hospital

关键词: primary immunodeficiency;    immune dysregulation;    alloHSCT;    IPEX;    LRBA;    CTLA-4;    IL10R;    IUIS classification 2017;   

DOI  :  10.3389/fped.2019.00461

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Primary immunodeficiency disorders that predominantly affect immune regulation and mechanisms of self-tolerance have come into the limelight, because at least for a subgroup of monogenetic disorders, a targeted therapy has become available. Nevertheless, their management often involves the treatment of severely compromising, refractory, multi-organ autoimmunity, leading to further increased susceptibility to infections and complications of long-term immune suppressive treatment, including the risk of malignancy. While evidence for allogeneic hematopoietic stem cell transplantation (alloHSCT) as a curative treatment option for severely affected patients by this disease category accumulates, clear indications, and guidelines for alloHSCT are lacking. Predictive and stratification-relevant tools such as disease activity scores are largely missing and often there is not a consistent genotype-phenotype correlation within the same family to facilitate the decision whether to transplant or not. In this review, we provide a literature-based update on indications and outcomes of alloHSCT for congenital immune dysregulative inborn errors of immunity according to the IUIS classification 2017.

【 授权许可】

CC BY