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Partially corrected X-linked severe combined immunodeficiency: long-term problems and treatment options

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Abstract

Rapid progress has been made from the identification of the molecular defects causing X-linked severe combined immune deficiency (X-SCID) to the development of cutting-edge therapeutic approaches such as hematopoietic stem cell transplant and gene therapy for XSCID. Successful treatment of XSCID has created a new population of patients, many of whom are now adolescents and young adults and are facing a variety of chronic problems secondary to partial correction of their underlying disease. This review focuses on the clinical challenges facing these patients (and their caregivers) and provides an overview of some of the treatment options available, including gene therapy.

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Acknowledgment

This project was supported by the Intramural Research Program of the NIH, National Institute of Allergy and Infectious Diseases. We thank Dr Kol Zarember for his critical review of the manuscript and apologize to the authors of many excellent publications that we were not able to present adequately in this review.

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  1. Genetic Immunotherapy, Laboratory of Host Defense, National Institutes of Health, Building 10, Room 5-3816, 5 West Labs CRC, 10 Center Drive MSC1456, Bethesda, MD, 20892-1456, USA

    Suk See De Ravin & Harry L. Malech

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  1. Suk See De Ravin
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  2. Harry L. Malech
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Correspondence to Suk See De Ravin.

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De Ravin, S.S., Malech, H.L. Partially corrected X-linked severe combined immunodeficiency: long-term problems and treatment options. Immunol Res 43, 223–242 (2009). https://doi.org/10.1007/s12026-008-8073-6

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