Browse by author
Lookup NU author(s): Dr Christo TsilifisORCiD,
Dr Mary Slatter,
Professor Andrew GenneryORCiD
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).
© 2021 Elsevier Inc.Major histocompatibility class I deficiency, due to genetic lesions in TAP1, TAP2, TAPBP, or B2M, manifests with recurrent sinopulmonary infections and granulomatous skin ulceration, and is predominately treated with antimicrobial prophylaxis and chest physiotherapy. One previous report of hematopoietic stem cell transplantation has been described in the literature, demonstrating cure of the immune defect without significant graft-versus-host disease. In this report, we expand the literature on HSCT in MHC-I deficiency with follow-up of the original patient, demonstrating maintained resolution of normal immune function and regression of the granulomatous rash 15 years post-transplant, and describe a further patient with mycobacterial disease whose transplant course was complicated by severe graft-versus-host disease.
Author(s): Tsilifis C, Moreira D, Marques L, Neves E, Slatter MA, Gennery AR
Publication type: Article
Publication status: Published
Journal: Clinical Immunology
Print publication date: 01/08/2021
Online publication date: 16/07/2021
Acceptance date: 14/07/2021
Date deposited: 08/12/2021
ISSN (print): 1521-6616
ISSN (electronic): 1521-7035
Publisher: Academic Press Inc.
Altmetrics provided by Altmetric