Treatment of inborn errors of immunity patients with inflammatory bowel disease phenotype by allogeneic stem cell transplantation

Summary Patients with inborn errors of immunity (IEI) can suffer from treatment‐refractory inflammatory bowel disease (IBD) causing failure to thrive and consequences of long‐term multiple immunosuppressive treatments. Allogeneic haematopoietic stem cell transplantation (alloHSCT) can serve as a cur...

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Bibliographic Details
Published in:British journal of haematology 2023-03, Vol.200 (5), p.595-607
Main Authors: Moser, Laura M., Fekadu, Julia, Willasch, André, Rettinger, Eva, Sörensen, Jan, Jarisch, Andrea, Kirwil, Marta, Lieb, Adrian, Holzinger, Dirk, Calaminus, Gabriele, Bader, Peter, Bakhtiar, Shahrzad
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing
alloHSCT
Chronic granulomatous disease
Cytokinesis
Dock 8
Failure to thrive
Failure to Thrive - complications
Genetic screening
Graft vs Host Disease
Graft-versus-host reaction
Guanine Nucleotide Exchange Factors
Hematology
Hematopoietic Stem Cell Transplantation - adverse effects
Hematopoietic stem cells
Humans
IBD
immune dysregulation
Immune reconstitution
Inflammatory bowel disease
Inflammatory bowel diseases
Inflammatory Bowel Diseases - complications
Inflammatory Bowel Diseases - genetics
Inflammatory Bowel Diseases - therapy
Intestine
Lipopolysaccharides
LRBA
Medical treatment
Phenotype
Phenotypes
Protein deficiency
Retrospective Studies
STAT 3 GOF
Stat3 protein
Stem cell transplantation
Transplantation Conditioning - adverse effects
Treatment Outcome
Wiskott-Aldrich syndrome
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Summary:Summary Patients with inborn errors of immunity (IEI) can suffer from treatment‐refractory inflammatory bowel disease (IBD) causing failure to thrive and consequences of long‐term multiple immunosuppressive treatments. Allogeneic haematopoietic stem cell transplantation (alloHSCT) can serve as a curative treatment option. In this single‐centre retrospective cohort study we report on 11 paediatric and young adult IEI patients with IBD and failure to thrive, who had exhausted symptomatic treatment options and received alloHSCT. The cohort included chronic granulomatous disease (CGD), lipopolysaccharide‐responsive and beige‐like anchor protein (LRBA) deficiency, STAT3 gain‐of‐function (GOF), Wiskott–Aldrich syndrome (WAS), dedicator of cytokinesis 8 (DOCK8) deficiency and one patient without genetic diagnosis. All patients achieved stable engraftment and immune reconstitution, and gastrointestinal symptoms were resolved after alloHSCT. The overall survival was 11/11 over a median follow‐up of 34.7 months. Graft‐versus‐host disease (GVHD) was limited to grade I–II acute GVHD (n = 5), one case of grade IV acute GVHD and one case of limited chronic GVHD. Since treatment recommendations are limited, this work provides a centre‐specific approach to treatment prior to transplant as well as conditioning in IEI patients with severe IBD.
ISSN:0007-1048
1365-2141
DOI:10.1111/bjh.18497