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Despina Moshous

Hôpital Necker-Enfants Malades

ORCID: 0000-0001-6719-3693

Publishes on Immunodeficiency and Autoimmune Disorders, Immune Cell Function and Interaction, Hematopoietic Stem Cell Transplantation. 301 papers and 18.9k citations.

301Publications
18.9kTotal Citations

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Top publicationsby citations

Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1
Salima Hacein‐Bey‐Abina, Alexandrine Garrigue, Gary P. Wang et al.|Journal of Clinical Investigation|2008
Cited by 1.8kOpen Access

Previously, several individuals with X-linked SCID (SCID-X1) were treated by gene therapy to restore the missing IL-2 receptor gamma (IL2RG) gene to CD34+ BM precursor cells using gammaretroviral vectors. While 9 of 10 patients were successfully treated, 4 of the 9 developed T cell leukemia 31-68 months after gene therapy. In 2 of these cases, blast cells contained activating vector insertions near the LIM domain-only 2 (LMO2) proto-oncogene. Here, we report data on the 2 most recent adverse events, which occurred in patients 7 and 10. In patient 10, blast cells contained an integrated vector near LMO2 and a second integrated vector near the proto-oncogene BMI1. In patient 7, blast cells contained an integrated vector near a third proto-oncogene,CCND2. Additional genetic abnormalities in the patients' blast cells included chromosomal translocations, gain-of-function mutations activating NOTCH1, and copy number changes, including deletion of tumor suppressor gene CDKN2A, 6q interstitial losses, and SIL-TAL1 rearrangement. These findings functionally specify a genetic network that controls growth in T cell progenitors. Chemotherapy led to sustained remission in 3 of the 4 cases of T cell leukemia, but failed in the fourth. Successful chemotherapy was associated with restoration of polyclonal transduced T cell populations. As a result, the treated patients continued to benefit from therapeutic gene transfer.