TY  - JOUR
A1  - Bakhtiar, Shahrzad
A1  - Fekadu, Julia
A1  - Seidel, Markus G.
A1  - Gambinieri, Eleonora
T1  - Allogeneic hematopoietic stem cell transplantation for congenital immune dysregulatory disorders
T2  - Frontiers in Pediatrics
N2  - 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.
KW  - primary immunodeficiency
KW  - immune dysregulation
KW  - alloHSCT
KW  - IPEX
KW  - LRBA
KW  - CTLA-4
KW  - IL10R
KW  - IUIS classification 2017
Y1  - 2019
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/51886
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-518862
SN  - 2296-2360
N1  - Copyright © 2019 Bakhtiar, Fekadu, Seidel and Gambinieri. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
VL  - 7
IS  - Art. 461
SP  - 1
EP  - 10
PB  - Frontiers Media
CY  - Lausanne
ER  -