1. Stem cell transplantation as treatment for major histocompatibility class I deficiency.
- Author
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Tsilifis C, Moreira D, Marques L, Neves E, Slatter MA, and Gennery AR
- Subjects
- ATP Binding Cassette Transporter, Subfamily B, Member 2 deficiency, ATP Binding Cassette Transporter, Subfamily B, Member 2 genetics, ATP Binding Cassette Transporter, Subfamily B, Member 3 deficiency, ATP Binding Cassette Transporter, Subfamily B, Member 3 genetics, Child, Chromosome Deletion, Fatal Outcome, Female, Follow-Up Studies, Graft vs Host Disease etiology, Humans, Loss of Function Mutation, Pneumonia immunology, Pneumonia therapy, Primary Immunodeficiency Diseases immunology, Proteasome Endopeptidase Complex deficiency, Proteasome Endopeptidase Complex genetics, T-Lymphocytes immunology, Young Adult, Hematopoietic Stem Cell Transplantation adverse effects, Histocompatibility Antigens Class I genetics, Primary Immunodeficiency Diseases genetics, Primary Immunodeficiency Diseases therapy
- Abstract
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., (Copyright © 2021 Elsevier Inc. All rights reserved.)
- Published
- 2021
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