ePrints

Haematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease

Lookup NU author(s): Professor Mary Slatter, Professor Andrew GenneryORCiD

Downloads

• Published version [.pdf]

Licence

This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

© 2023 by the authors. Chronic granulomatous disease (CGD) is an inborn error of immunity due to defects in the transport or function of subunits of nicotinamide adenine dinucleotide phosphate oxidase, the enzyme that generates the phagocyte respiratory burst responsible for intracellular killing of engulfed micro-organisms. Patients present with infectious or inflammatory complications. Common bacterial pathogens include Staphylococcus aureus and Burkholderia cepacia complex. Fungal pathogens include Aspergillus species, particularly Aspergillus fumigatus. Inflammatory complications most commonly manifest as inflammatory bowel disease or lung disease. Granulomata are the distinguishing histological feature. Haematopoietic stem cell transplantation (HSCT) was first considered for CGD in the early 1970’s. Since then, refinements in transplant technique, donor selection, conditioning regimens, and graft engineering have widened the option of HSCT to most patients with CGD. This review charts the progress made in HSCT for CGD.

Publication metadata

Author(s): Slatter MA, Gennery AR

Publication type: Review

Publication status: Published

Journal: Journal of Clinical Medicine

Year: 2023

Volume: 12

Issue: 18

Online publication date: 20/09/2023

Acceptance date: 05/09/2023

ISSN (electronic): 2077-0383

Publisher: MDPI

URL: https://doi.org/10.3390/jcm12186083

DOI: 10.3390/jcm12186083

Share