Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease.
- M. Cavazzana‐Calvo, S. Hacein‐Bey, A. Fischer
- Biology, MedicineScience
- 28 April 2000
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.
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity.
- F. Rieux-Laucat, F. Le Deist, J. de Villartay
- Biology, MedicineScience
- 2 June 1995
Fas expression and function were analyzed in three children with a lymphoproliferative syndrome and may provide a molecular basis for some autoimmune diseases in humans.
Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency.
- F. Altare, A. Durandy, J. Casanova
- Medicine, BiologyScience
- 29 May 1998
Interleukin-12 (IL-12) receptor deficiency was found in otherwise healthy individuals with mycobacterial infections, and mature granulomas were seen, surrounded by T cells and centered with epithelioid and multinucleated giant cells, yet reduced IFN-gamma concentrations were found to be secreted by activated natural killer and T cells.
Partial albinism with immunodeficiency (Griscelli syndrome).
- C. Klein, N. Philippe, C. Griscelli
- MedicineJornal de Pediatria
- 1 December 1994
CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans.
- S. Weller, A. Faili, J. Weill
- Biology, MedicineProceedings of the National Academy of Sciences…
- 30 January 2001
It is reported here that an IgM(+)IgD(+)CD27(+) B cell subset with somatically mutated Ig receptors is generated in X-linked hyper IgM patients, implying that these cells expand and diversify their Ig receptors in the absence of classical cognate T-B collaboration.
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection.
- F. Altare, D. Lammas, D. Kumararatne
- Biology, MedicineJournal of Clinical Investigation
- 15 December 1998
The discovery of the first discovered human disease resulting from a cytokine gene defect suggests that IL-12 is essential to and appears specific for protective immunity to intracellular bacteria such as mycobacteria and salmonella.
Frequency and severity of central nervous system lesions in hemophagocytic lymphohistiocytosis.
- E. Haddad, M. Sulis, N. Jabado, S. Blanche, A. Fischer, M. Tardieu
- Medicine, BiologyBlood
- 1 February 1997
Given the frequency and the poor outcome of CNS disease in HLH, BMT appears to be the only available treatment procedure capable of preventing HLH CNS disease progression and that can result in cure when performed early enough after remission induction.
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection.
- E. Jouanguy, F. Altare, J. Casanova
- Biology, MedicineNew England Journal of Medicine
- 26 December 1996
The attenuated strain of Mycobacterium bovis bacille Calmette–Guerin (BCG) is the most widely used vaccine in the world. In most children, inoculation of live BCG vaccine is harmless although it oc...
The calcium current activated by T cell receptor and store depletion in human lymphocytes is absent in a primary immunodeficiency.
- M. Partiseti, F. Le Deist, C. Hivroz, A. Fischer, H. Korn, D. Choquet
- Biology, MedicineJournal of Biological Chemistry
- 23 December 1994
Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways
- F. Rieux-Laucat, F. Deist, A. Fischer
- BiologyCell Death and Differentiation
- 2003
The absence of lymproliferation in engineered mutants of ‘death pathways’ suggests that additional events are necessary to recapitulate the overt phenotype of ALPS patients or MRL/lpr mice.
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