The 2016 Stanley J. Korsmeyer Award
The American Society for Clinical Investigation (ASCI) has named Jean-Laurent Casanova, MD, PhD, as the recipient of the 2016 Stanley J. Korsmeyer Award for his discovery that single-gene inborn errors of immunity can underlie life-threatening infectious diseases in otherwise healthy children and young adults.
Dr. Casanova will receive an unrestricted honorarium of $20,000 from the ASCI and give the Korsmeyer Award Lecture at the upcoming AAP/ASCI/APSA Joint Meeting. An interview with Dr. Casanova will be published in the April 2016 issue of the JCI.
Dr. Casanova has been actively publishing in the JCI since 1997. His first paper in the JCI featured a clinically relevant case where a kindred with partial interferon-γ receptor 1 (IFNγR1) deficiency was shown to cause curable tuberculoid bacillus Calmette-Guérin (BCG) infection and clinical tuberculosis, while complete IFNγR1 deficiency was previously known to cause fatal BCG infections. Click here to see more of Dr. Casanova’s research published in the JCI.
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Citation Information: J Clin Invest. 1997;100(11):2658-2664. https://doi.org/10.1172/JCI119810.
Abstract
Complete interferon-gamma receptor 1 (IFNgammaR1) deficiency has been identified previously as a cause of fatal bacillus Calmette-Guérin (BCG) infection with lepromatoid granulomas, and of disseminated nontuberculous mycobacterial (NTM) infection in children who had not been inoculated with BCG. We report here a kindred with partial IFNgammaR1 deficiency: one child afflicted by disseminated BCG infection with tuberculoid granulomas, and a sibling, who had not been inoculated previously with BCG, with clinical tuberculosis. Both responded to antimicrobials and are currently well without prophylactic therapy. Impaired response to IFN-gamma was documented in B cells by signal transducer and activator of transcription 1 nuclear translocation, in fibroblasts by cell surface HLA class II induction, and in monocytes by cell surface CD64 induction and TNF-alpha secretion. Whereas cells from healthy children responded to even low IFN-gamma concentrations (10 IU/ml), and cells from a child with complete IFNgammaR1 deficiency did not respond to even high IFN-gamma concentrations (10,000 IU/ml), cells from the two siblings did not respond to low or intermediate concentrations, yet responded to high IFN-gamma concentrations. A homozygous missense IFNgR1 mutation was identified, and its pathogenic role was ascertained by molecular complementation. Thus, whereas complete IFNgammaR1 deficiency in previously identified kindreds caused fatal lepromatoid BCG infection and disseminated NTM infection, partial IFNgammaR1 deficiency in this kindred caused curable tuberculoid BCG infection and clinical tuberculosis.
Authors
E Jouanguy, S Lamhamedi-Cherradi, F Altare, M C Fondanèche, D Tuerlinckx, S Blanche, J F Emile, J L Gaillard, R Schreiber, M Levin, A Fischer, C Hivroz, Jean-Laurent Casanova
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