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Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells
Abstract
X-linked severe combined immunodeficiency is a recessive hereditary disease characterized by severe and persistent infections starting in the first months of life and associated with diarrhea and failure to thrive.1 Affected infants almost invariably present with an absence of T cells and natural killer cells, normal or elevated B-cell counts, and hypogammaglobulinemia. This disease is rapidly fatal without bone marrow transplantation.2 The disease locus has been mapped to Xq12–13,3 and the genetic defect identified as a mutation of the γ chain of the interleukin-2 receptor,4 which has been cloned and was recently renamed the common γ (γc) chain because of . . .
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Citations
Cited by
Gene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 Disease
Cavazzana-Calvo, M., Hacein-Bey, S., Basile, G. D. S., Gross, F., Yvon, E., Nusbaum, P., Selz, F., Hue, C., Certain, S., Casanova, J.-L., et al. (2000) · Science · doi:10.1126/science.288.5466.669 · Cited by 2,167
Self-citationHolt, N., Wang, J., Kim, K., Friedman, G., Wang, X., Taupin, V., Crooks, G. M., Kohn, D. B., Gregory, P. D., Holmes, M. C., et al. (2010) · Nature Biotechnology · doi:10.1038/nbt.1663 · Cited by 677
Kohn, D. B., Hershfield, M. S., Carbonaro, D., Shigeoka, A., Brooks, J., Smogorzewska, E. M., Barsky, L. W., Chan, R., Burotto, F., Annett, G., et al. (1998) · Nature Medicine · doi:10.1038/nm0798-775 · Cited by 323
Gene therapy for severe combined immunodeficiency: are we there yet?
Cavazzana-Calvo, M., & Fischer, A. (2007) · Journal of Clinical Investigation · doi:10.1172/jci30953 · Cited by 183
Self-citationWaisfisz, Q., Morgan, N. V., Savino, M., de Winter, J. P., van Berkel, C. G. M., Hoatlin, M. E., Ianzano, L., Gibson, R. A., Arwert, F., Savoia, A., et al. (1999) · Nature Genetics · doi:10.1038/11956 · Cited by 173
Metadata
- Authors
- Stephan, V., Wahn, V., Le Deist, F., Dirksen, U., Bröker, B., Müller-Fleckenstein, I., Horneff, G., Schroten, H., Fischer, A., & de Saint Basile, G.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1996-11-21
- Volume
- 335
- Issue
- 21
- Pages
- 1563-1567
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W1980132147
- Cited by
- 267
- References
- 0
- FWCI
- 2.39
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells. https://app.cochat.ai/papers/10.1056/nejm199611213352104
- The paper
- Stephan, V., Wahn, V., Le Deist, F., Dirksen, U., Bröker, B., Müller-Fleckenstein, I., Horneff, G., Schroten, H., Fischer, A., & de Saint Basile, G. (1996). Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells. New England Journal of Medicine. https://doi.org/10.1056/nejm199611213352104
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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