Literature DB >> 30850087

Chronic Cholangiopathy Associated with Primary Immune Deficiencies Can Be Resolved by Effective Hematopoietic Stem Cell Transplantation.

Nedim Hadžić1, Zohreh Nademi2, Maesha Deheragoda3, Yoh Zen3, Reem Elfeky4, Austen Worth2, Paul Veys5, Giorgina Mieli-Vergani6, E Graham Davies2.   

Abstract

OBJECTIVES: To investigate effects and outcome of hematopoietic stem cell transplantation (HSCT) on sclerosing cholangitis, in pediatric patients with different primary immunodeficiencies (PIDs). STUDY
DESIGN: From databases in 2 tertiary centers for immunodeficiencies and liver disease, we have identified children with PIDs and sclerosing cholangitis, who have paired clinical, radiologic, and histologic information before and after HSCT and studied their clinical progress and outcome.
RESULTS: Seven of 13 children (53.8%) died at a median interval of 4 months (range, 3 months-5 years) after HSCT. However, 6 surviving children (46.2%) with different PIDs and less severe cholangiopathies showed an improvement in markers of liver injury within months of successful unrelated reduced intensity conditioning HSCT. The repeated native liver biopsy, performed in 4 patients at a median of 96 (range, 4-144) months post-HSCT, showed a considerable improvement. Biochemical markers of liver function in the survivors completely normalized after a median of 13 months (range, 2-48). All patients continue to have a mildly dilated extrahepatic biliary system on ultrasonography with no intrahepatic ductal changes on magnetic resonance cholangiography after a follow-up of median 18 years (range, 2-20).
CONCLUSIONS: Effective HSCT has the potential to improve biochemical and histologic features of cholangiopathy in children with PIDs, presumably by clearance of chronic infection following establishment of immune competence. However, careful patient selection is critical as advanced liver injury is often associated with serious complications and mortality. Crown
Copyright © 2019. Published by Elsevier Inc. All rights reserved.

Entities:  

Keywords:  CD40 ligand deficiency; Cryptosporidium; DOCK-8 deficiency; graft vs host disease; hyper IgM syndrome; primary immunodeficiency; sclerosing cholangitis

Mesh:

Year:  2019        PMID: 30850087     DOI: 10.1016/j.jpeds.2019.01.015

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  4 in total

1.  Cryptosporidium infection in dedicator of cytokinesis 8 (DOCK 8) deficiency.

Authors:  Gil Ben Yakov; Disha Sharma; Min H Cho; Nirali N Shah; Dennis Hickstein; Amanda Urban; Dirk Darnell; Devika Kapuria; Jamie Marko; David E Kleiner; Colleen M Hadigan; Jeffrey Danielson; Hyoungjun Ham; Anusha Vittal; Helen C Su; Alexandra F Freeman; Theo Heller
Journal:  J Allergy Clin Immunol Pract       Date:  2020-06-22

2.  A genetic screen identifies a protective type III interferon response to Cryptosporidium that requires TLR3 dependent recognition.

Authors:  Alexis R Gibson; Adam Sateriale; Jennifer E Dumaine; Julie B Engiles; Ryan D Pardy; Jodi A Gullicksrud; Keenan M O'Dea; John G Doench; Daniel P Beiting; Christopher A Hunter; Boris Striepen
Journal:  PLoS Pathog       Date:  2022-05-18       Impact factor: 7.464

Review 3.  Hematopoietic Stem Cell Transplantation for Combined Immunodeficiencies, on Behalf of IEWP-EBMT.

Authors:  Benedicte Neven; Francesca Ferrua
Journal:  Front Pediatr       Date:  2020-01-24       Impact factor: 3.418

4.  Disseminated Cryptosporidium infection in an infant with CD40L deficiency.

Authors:  Fleur Dupuy; Stéphane Valot; Frédéric Dalle; Arthur Sterin; Coralie L'Ollivier
Journal:  IDCases       Date:  2021-04-07
  4 in total

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