Emmanuelle Jouanguy

Research interests

Publications

• Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

  Science · 2022 · https://doi.org/10.1126/science.abo3627

• Human genetic and immunological determinants of critical COVID-19 pneumonia

  Nature · 2022 · https://doi.org/10.1038/s41586-022-04447-0

• Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1

  The Journal of Experimental Medicine · 2021 · https://doi.org/10.1084/jem.20210554

• A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection

  Cell · 2020 · https://doi.org/10.1016/j.cell.2020.05.016

• Autoantibodies against type I IFNs in patients with life-threatening COVID-19

  Science · 2020 · https://doi.org/10.1126/science.abd4585

• Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

  The Journal of Experimental Medicine · 2019 · https://doi.org/10.1084/jem.20182295

• Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

  Nature · 2014 · https://doi.org/10.1038/nature13801

• Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

  Journal of Clinical Investigation · 2012 · https://doi.org/10.1172/jci61014

• Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells

  Nature · 2012 · https://doi.org/10.1038/nature11583

• Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

  The Journal of Experimental Medicine · 2011 · https://doi.org/10.1084/jem.20110958

• Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity

  The Journal of Experimental Medicine · 2011 · https://doi.org/10.1084/jem.20101568

• Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

  Journal of Clinical Investigation · 2011 · https://doi.org/10.1172/jci59259

• Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

  The Journal of Experimental Medicine · 2010 · https://doi.org/10.1084/jem.20101597

• Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex Encephalitis

  Immunity · 2010 · https://doi.org/10.1016/j.immuni.2010.08.014

• Inborn errors of interferon (IFN)‐mediated immunity in humans: insights into the respective roles of IFN‐α/β, IFN‐γ, and IFN‐λ in host defense

  Immunological Reviews · 2008 · https://doi.org/10.1111/j.1600-065x.2008.00698.x

• TLR3 Deficiency in Patients with Herpes Simplex Encephalitis

  Science · 2007 · https://doi.org/10.1126/science.1139522

• X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

  The Journal of Experimental Medicine · 2006 · https://doi.org/10.1084/jem.20060085

• Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency

  Science · 2006 · https://doi.org/10.1126/science.1128346

• Inborn errors of IL-12/23- and IFN-γ-mediated immunity: molecular, cellular, and clinical features

  Seminars in Immunology · 2006 · https://doi.org/10.1016/j.smim.2006.07.010

• The Jak-STAT signaling pathway is required but not sufficient for the antiviral response of drosophila

  Nature Immunology · 2005 · https://doi.org/10.1038/ni1237

• The Jak-STAT signaling pathway is required but not sufficient for the antiviral response of drosophila

  Nature Immunology · 2005 · https://doi.org/10.1038/ni1237

• Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency

  Nature Genetics · 2003 · https://doi.org/10.1038/ng1097

• Pherokine‐2 and ‐3

  European Journal of Biochemistry · 2003 · https://doi.org/10.1046/j.1432-1033.2003.03725.x

• Toll-related receptors and the control of antimicrobial peptide expression in Drosophila

  Proceedings of the National Academy of Sciences · 2000 · https://doi.org/10.1073/pnas.180130797

• IL-12 and IFN-γ in host defense against mycobacteria and salmonella in mice and men

  Current Opinion in Immunology · 1999 · https://doi.org/10.1016/s0952-7915(99)80055-7

• A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

  Nature Genetics · 1999 · https://doi.org/10.1038/7701

• Impairment of Mycobacterial Immunity in Human Interleukin-12 Receptor Deficiency

  Science · 1998 · https://doi.org/10.1126/science.280.5368.1432

• Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection.

  Journal of Clinical Investigation · 1998 · https://doi.org/10.1172/jci4950

• Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis.

  Journal of Clinical Investigation · 1997 · https://doi.org/10.1172/jci119810

• Interferon-γ –Receptor Deficiency in an Infant with Fatal Bacille Calmette–Guérin Infection

  New England Journal of Medicine · 1996 · https://doi.org/10.1056/nejm199612263352604

Current projects

No projects listed.