Stem cell transplantation as treatment for major histocompatibility class I deficiency

Christo Tsilifis; Diana Moreira; Laura Marques; Esmeralda Neves; Mary A Slatter; Andrew R Gennery

doi:10.1016/j.clim.2021.108801

Stem cell transplantation as treatment for major histocompatibility class I deficiency

Clin Immunol. 2021 Aug:229:108801. doi: 10.1016/j.clim.2021.108801. Epub 2021 Jul 16.

Authors

Christo Tsilifis¹, Diana Moreira², Laura Marques², Esmeralda Neves³, Mary A Slatter⁴, Andrew R Gennery⁴

Affiliations

¹ Paediatric Haematopoietic Stem Cell Transplant Unit, Great North Children's Hospital (GNCH), Victoria Wing, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, United Kingdom; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom. Electronic address: [email protected].
² Paediatric Infectious Diseases and Immunodeficiencies Unit and Clinical Immunology Unit, Centro Hospitalar e Universitário do Porto, Porto, Portugal.
³ Immunology Service and Clinical Immunology Unit, Centro Hospitalar e Universitário do Porto, Unit for Multidisciplinary Research in Biomedicine, Porto, Portugal.
⁴ Paediatric Haematopoietic Stem Cell Transplant Unit, Great North Children's Hospital (GNCH), Victoria Wing, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, United Kingdom; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.

PMID: 34280577
DOI: 10.1016/j.clim.2021.108801

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.

Keywords: Bare lymphocyte syndrome; HSCT; TAP1; TAP2; TAPBP.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

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
Hematopoietic Stem Cell Transplantation* / adverse effects
Histocompatibility Antigens Class I / genetics*
Humans
Loss of Function Mutation
Pneumonia / immunology
Pneumonia / therapy
Primary Immunodeficiency Diseases / genetics*
Primary Immunodeficiency Diseases / immunology
Primary Immunodeficiency Diseases / therapy*
Proteasome Endopeptidase Complex / deficiency
Proteasome Endopeptidase Complex / genetics
T-Lymphocytes / immunology
Young Adult

Substances

ATP Binding Cassette Transporter, Subfamily B, Member 2
ATP Binding Cassette Transporter, Subfamily B, Member 3
Histocompatibility Antigens Class I
TAP1 protein, human
TAP2 protein, human
LMP7 protein
Proteasome Endopeptidase Complex