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Partial immune reconstitution after bone marrow transplantation in a boy with recombination activating gene 1 defect

Bone Marrow Transplantation volume 33, pages 877–878 (2004)Cite this article

Severe combined immunodeficiencies (SCID) are a group of rare congenital disorders characterized by the impairment of both humoral and cell-mediated immunity, lymphopenia and low or absent antibody levels. They usually manifest in the first months of life with severe and recurring infections leading to death. Bone marrow transplantation (BMT) needs to be considered as soon as possible after a diagnosis of SCID because these disorders usually run an unpredictable course and may rapidly prove fatal.1,2

Recombination activating gene-1 (RAG-1) and RAG-2 are the two essential and tissue-specific components for the generation of antigen-binding diversity by assembly of the variable (V), diversity (D), and joining (J) domain exons at the inmunoglobulin and T-cell receptor (TCR) gene loci during lymphocyte development. RAG-1 and RAG-2 deficiencies are autosomal recessive diseases (Online Mendelian Inheritance in Man, OMIM™. Johns Hopkins University, Baltimore, MD. MIM number: 179615, 7/12/2002. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim)3 that result in a functional inability to form antigen receptors through genetic recombination leading to primary inmunodeficiencies in humans. Additionally, patients with SCID secondary to RAG mutations may have Omenn syndrome, characterized by the presence of a substantial number of oligoclonal activated T cells associated with autoreactive manifestations.4

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Acknowledgements

We thank Paloma de Pablos and Paloma Paule for excellent technical assistance. J Muñoz-Robles and MJ Del Rey contributed equally to this work.

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Authors and Affiliations

  1. Servicio de Inmunología, Hospital 12 de Octubre, Madrid, Spain

    J Muñoz-Robles, M J Del Rey, E Paz-Artal & L M Allende

  2. Servicio de Inmunodeficiencias, Hospital 12 de Octubre, Madrid, Spain

    J Ruiz-Contreras, J Clemente & J T Ramos

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  1. J Muñoz-Robles
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  2. M J Del Rey
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  3. J Ruiz-Contreras
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  4. J Clemente
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  5. J T Ramos
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  6. E Paz-Artal
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  7. L M Allende
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Muñoz-Robles, J., Del Rey, M., Ruiz-Contreras, J. et al. Partial immune reconstitution after bone marrow transplantation in a boy with recombination activating gene 1 defect. Bone Marrow Transplant 33, 877–878 (2004). https://doi.org/10.1038/sj.bmt.1704447

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