Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency

Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency

Author John, Tami Google Scholar
Walter, Jolan E. Google Scholar
Schuetz, Catherina Google Scholar
Chen, Karin Google Scholar
Abraham, Roshini S. Google Scholar
Bonfim, Carmem Google Scholar
Boyce, Thomas G. Google Scholar
Joshi, Avni Y. Google Scholar
Kang, Elizabeth Google Scholar
Costa-Carvalho, Beatriz Tavares Autor UNIFESP Google Scholar
Mahajerin, Arash Google Scholar
Nugent, Diane Google Scholar
Puthenveetil, Geetha Google Scholar
Soni, Amit Google Scholar
Su, Helen Google Scholar
Cowan, Morton J. Google Scholar
Notarangelo, Luigi Google Scholar
Buchbinder, David Google Scholar
Abstract The use of HLA-identical hematopoietic stem cell transplantation (HSCT) demonstrates overall survival rates greater than 75 % for T-B-NK+ severe combined immunodeficiency secondary to pathogenic mutation of recombinase activating genes 1 and 2 (RAG1/2). Limited data exist regarding the use of HSCT in patients with hypomorphic RAG variants marked by greater preservation of RAG activity and associated phenotypes such as granulomatous disease in combination with autoimmunity. We describe a 17-year-old with combined immunodeficiency and immune dysregulation characterized by granulomatous lung disease and autoimmunity secondary to compound heterozygous RAG mutations. A myeloablative reduced toxicity HSCT was completed using an unrelated bone marrow donor. With the increasing cases of immune dysregulation being discovered with hypomorphic RAG variants, the use of HSCT may advance to the forefront of treatment. This case serves to discuss indications of HSCT, approaches to preparative therapy, and the potential complications in this growing cohort of patients with immune dysregulation and RAG deficiency.
Keywords RAG deficiency
primary immunodeficiency
immune dysregulation
autoimmunity
bone marrow transplantation
xmlui.dri2xhtml.METS-1.0.item-coverage New York
Language English
Sponsor Intramural Research Program of the National Institute of Allergy and Infectious Disease (NIAID), National Institute of Health (NIH)
Date 2016
Published in Journal Of Clinical Immunology. New York, v. 36, n. 7, p. 725-732, 2016.
ISSN 0271-9142 (Sherpa/Romeo, impact factor)
Publisher Springer/Plenum Publishers
Extent 725-732
Origin http://dx.doi.org/10.1007/s10875-016-0326-x
Access rights Closed access
Type Article
Web of Science ID WOS:000383246400015
URI https://repositorio.unifesp.br/handle/11600/57040

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