Toggle Main Menu Toggle Search

Open Access padlockePrints

Stem cell transplantation as treatment for major histocompatibility class I deficiency

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.

Publication metadata

Author(s): Tsilifis C, Moreira D, Marques L, Neves E, Slatter MA, Gennery AR

Publication type: Article

Publication status: Published

Journal: Clinical Immunology

Year: 2021

Volume: 229

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.


DOI: 10.1016/j.clim.2021.108801


Altmetrics provided by Altmetric