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Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease.
TLDR
A gene therapy trial for SCID-X1 was initiated, based on the use of complementary DNA containing a defective gammac Moloney retrovirus-derived vector and ex vivo infection of CD34+ cells, which provided full correction of disease phenotype and clinical benefit. Expand
LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1
TLDR
Retrovirus vector insertion can trigger deregulated premalignant cell proliferation with unexpected frequency, most likely driven by retrovirus enhancer activity on the LMO2 gene promoter. Expand
Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency
TLDR
The cloning of the gene encoding a novel protein involved in V(D)J recombination/DNA repair, Artemis, whose mutations cause human RS-SCID is described. Expand
Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy
TLDR
Lentiviral-mediated gene therapy of hematopoietic stem cells can provide clinical benefits in ALD, and progressive cerebral demyelination in the two patients stopped, a clinical outcome comparable to that achieved by allogeneic HCT. Expand
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia
TLDR
It is shown that, 33 months after lentiviral β-globin gene transfer, an adult patient with severe βE/β0-thalassaemia dependent on monthly transfusions since early childhood has become transfusion independent for the past 21 months. Expand
Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1.
TLDR
These findings functionally specify a genetic network that controls growth in T cell progenitors and led to sustained remission in 3 of the 4 cases of T cell leukemia, but failed in the fourth. Expand
A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency.
TLDR
The sustained correction of X-linked severe combined immunodeficiency disease by ex vivo, retrovirally mediated transfer of the γc gene into CD34+ cells in four of five patients with the disease has been reported. Expand
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy.
TLDR
Ex vivo gene therapy with gamma(c) can safely correct the immune deficiency of patients with X-linked severe combined immunodeficiency and allow patients to have a normal life. Expand
Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells.
TLDR
It is found that FA patients exhibit a profound defect in hematopoietic stem and progenitor cells (HSPCs) that is present before the onset of clinical BMF, and an exacerbated p53/p21 "physiological" response to cellular stress and DNA damage accumulation as a central mechanism for progressive HSPC elimination in FA patients. Expand
Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99
TLDR
The improvement in survival over time indicates more effective prevention and treatment of disease-related and procedure-related complications and graft versus host disease in the HLA-non-identical setting by use of more efficient methods of T-cell depletion. Expand
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