18.08.2016 | Original Article
Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency
verfasst von:
Tami John, Jolan E. Walter, Catherina Schuetz, Karin Chen, Roshini S. Abraham, Carmem Bonfim, Thomas G. Boyce, Avni Y. Joshi, Elizabeth Kang, Beatriz Tavares Costa Carvalho, Arash Mahajerin, Diane Nugent, Geetha Puthenveetil, Amit Soni, Helen Su, Morton J. Cowan, Luigi Notarangelo, David Buchbinder
Erschienen in:
Journal of Clinical Immunology
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Ausgabe 7/2016
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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.