Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

@article{Zhang2020InbornEO,
  title={Inborn errors of type I IFN immunity in patients with life-threatening COVID-19},
  author={Qian Zhang and Paul Bastard and Zhiyong Liu and J{\'e}r{\'e}mie Le Pen and Marcela Moncada-Velez and Jie Chen and Masato Ogishi and Ira K. D. Sabli and Stephanie Hodeib and Cecilia Korol and J{\'e}r{\'e}mie Rosain and Kaya Bilguvar and Junqiang Ye and Alexandre Bolze and Benedetta Bigio and Rui Yang and Andr{\'e}s Augusto Arias and Qinhua Zhou and Yu Zhang and Fanny Onodi and Sarantis Korniotis and L{\'e}a Karpf and Quentin Philippot and Marwa Chbihi and Lucie Bonnet-Madin and Karim Dorgham and Nika{\"i}a Smith and William M. Schneider and Brandon S. Razooky and Hans-Heinrich Hoffmann and Eleftherios Michailidis and Leen Moens and Ji Eun Han and Lazaro Lorenzo and Lucy Bizien and Philip Meade and Anna-Lena Neehus and Aileen Camille Ugurbil and Aurelien Corneau and Gaspard Kerner and P. Zhang and Franck Rapaport and Yoann Seeleuthner and J{\'e}r{\'e}my Manry and C{\'e}cile Masson and Yohann Schmitt and Agatha Schl{\"u}ter and Tom Le Voyer and Taushif Khan and Juan Li and Jacques Fellay and Lucie Roussel and Mohammad Shahrooei and Mohammed F. Alosaimi and Davood Mansouri and Haya Al-Saud and Fahd Al-Mulla and Feras Almourfi and Saleh Al‐Muhsen and Fahad Alsohime and Saeed H Al Turki and Rana Hasanato and Diederik van de Beek and Andrea Biondi and Laura Rachele Bettini and Mariella D'angi{\`o} and Paolo Bonfanti and Luisa Imberti and Alessandra Sottini and Simone Paghera and Eugenia Quiros-Roldan and Camillo Rossi and Andrew J. Oler and Miranda F. Tompkins and Camille Alba and Isabelle Vandernoot and Jean-Christophe Goffard and Guillaume Smits and Isabelle Migeotte and Filomeen Haerynck and Pere Soler-Palac{\'i}n and Andrea Mart{\'i}n-Nalda and Roger Colobran and Pierre E. Morange and Sevgi Keles and Fatma Ç{\"o}lkesen and Tayfun Ozcelik and Kadriye Kart Yasar and Sevtap Şenoğlu and Şemsi Nur Karabela and Carlos Rodr{\'i}guez-Gallego and Giuseppe Novelli and Sami Hraiech and Yacine Tandjaoui-Lambiotte and Xavier Duval and C{\'e}dric Laou{\'e}nan and Andrew L. Snow and Clifton L. Dalgard and Joshua D. Milner and Donald Cuong Vinh and Trine Hyrup Mogensen and Nico Marr and Andr{\'a}s N. Spaan and Bertrand Boisson and St{\'e}phanie Boisson-Dupuis and Jacinta Bustamante and Anne Puel and Michael J. Ciancanelli and Isabelle Meyts and Tom Maniatis and Vassili Soumelis and Ali Amara and Michel C. Nussenzweig and Adolfo Garc{\'i}a-Sastre and Florian Krammer and Aurora Pujol and Darragh Duffy and Richard P Lifton and Shen-Ying Zhang and Guy Gorochov and Vivien B{\'e}ziat and Emmanuelle Jouanguy and Vanessa Sancho-Shimizu and Charles M. Rice and Laurent Abel and Luigi Daniele Notarangelo and Aur{\'e}lie Cobat and Helen C. Su and Jean Laurent Casanova},
  journal={Science (New York, N.y.)},
  year={2020},
  volume={370}
}
The genetics underlying severe COVID-19 The immune system is complex and involves many genes, including those that encode cytokines known as interferons (IFNs). Individuals that lack specific IFNs can be more susceptible to infectious diseases. Furthermore, the autoantibody system dampens IFN response to prevent damage from pathogen-induced inflammation. Two studies now examine the likelihood that genetics affects the risk of severe coronavirus disease 2019 (COVID-19) through components of this… Expand
Insufficient type I IFN immunity underlies life-threatening COVID-19 pneumonia.
TLDR
Findings indicate that impaired type I IFN immunity underlies life-threatening COVID-19 pneumonia in at least 13% of patients, and pave the way for further research into unexplained severe cases, and provide a rationale for preventing and treating the disease in individuals at risk, with recombinanttype I IFNs. Expand
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
TLDR
A means by which individuals at highest risk of life-threatening COVID-19 can be identified is identified, and the hypothesis that neutralizing auto-Abs against type I IFNs may underlie critical CO VID-19 is tested. Expand
Dysregulated Interferon Response Underlying Severe COVID-19
TLDR
Current studies call for a better understanding of the IFN response regarding the spatiotemporal determination and subtype-specificity against SARS-CoV-2 infections, which are warranted to devise IFN-related prophylactics and therapies. Expand
Potential Implications of a Type 1 Interferon Gene Signature on COVID-19 Severity and Chronic Inflammation in Sickle Cell Disease
TLDR
Type 1 interferon responses in patients with SCD may contribute to the variable COVID-19 responses reported in prior studies, and additional studies investigating the mechanisms underlying IFNα/β production and other clinical consequences of IFNβ-mediated inflammation in SCD disease are warranted. Expand
A Role of Variance in Interferon Genes to Disease Severity in COVID-19 Patients
TLDR
The comparative analysis of COVID-19 and other viral infections allows us to predict that the variants within the interferon pathway genes may serve as markers of the magnitude of immune response to specific pathogens. Expand
Auto-antibodies against type I IFNs are associated with severe COVID-19 pneumonia
TLDR
A recent work published in Science reported that neutralizing auto-antibodies (auto-Abs) against type I interferons (IFNs) were distinctly found in patients with lifethreatening COVID-19 pneumonia, while were rarely detected in asymptomatic, benign infectious, or healthy individuals. Expand
Type I interferon autoantibodies are associated with systemic immune alterations in patients with COVID-19
TLDR
It is suggested that early evidence of type I IFN autoantibodies and increased LAIR1 expression may help distinguish severe cases of COVID-19, the disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Expand
Circulating Type I Interferon Levels and COVID-19 Severity: A Systematic Review and Meta-Analysis
TLDR
Peripheral IFN-α cannot be used as a severity marker as it does not determine the clinical status presented by COVID-19 patients. Expand
Host Genetics and Antiviral Immune Responses in Adult Patients With Multisystem Inflammatory Syndrome
TLDR
An impaired production of type I and III interferons in response to SARS-CoV-2 infection is observed and several rare potentially disease-causing gene variants potentially contributing to MIS-A are detected. Expand
Do monogenic inborn errors of immunity cause susceptibility to severe COVID-19?
TLDR
It is suggested that more evidence is needed to substantiate the hypothesis for a genetic immune predisposition to severe COVID-19, and the importance of considering experimental design when implicating a monogenic basis for severe disease is highlighted. Expand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 95 REFERENCES
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
TLDR
A means by which individuals at highest risk of life-threatening COVID-19 can be identified is identified, and the hypothesis that neutralizing auto-Abs against type I IFNs may underlie critical CO VID-19 is tested. Expand
Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients
TLDR
The results of this trio of studies suggest that the location, timing, and duration of IFN exposure are critical parameters underlying the success or failure of therapeutics for viral respiratory infections. Expand
Identification of an IRF3 variant and defective antiviral interferon responses in a patient with severe influenza
TLDR
The importance of type I and type III IFNs for the control of influenza virus has been highlighted in several murine models, demonstrating significantly increased suspicion of antiviral properties. Expand
STAT2 deficiency and susceptibility to viral illness in humans
TLDR
The findings imply that type I IFN signaling [through interferon-stimulated gene factor 3 (ISGF3)] is surprisingly not essential for host defense against the majority of common childhood viral infections. Expand
Human IFNAR2 deficiency: Lessons for antiviral immunity
TLDR
The phenotype of IFNAR2 deficiency, together with similar findings in STAT2-deficient patients, supports an essential but narrow role for IFN-α/β in human antiviral immunity. Expand
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency
TLDR
Findings show that human IRF9- and ISGF3-dependent type I and III IFN responsive pathways are essential for controlling IAV. Expand
A proline deletion in IFNAR1 impairs IFN-signaling and underlies increased resistance to tuberculosis in humans
TLDR
The findings suggest that IFNAR1 signaling underlies an increased risk of tuberculosis in humans and reveals a function for the IFnAR1 inter-domain region in cytokine–cytokine receptor interaction and signal transduction in the cytokine response. Expand
Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency
TLDR
It is suggested that IRF7-dependent amplification of type I and III IFNs is required for protection against primary infection by influenza virus in humans and that severe influenza may result from single-gene inborn errors of immunity. Expand
Human genetics of life-threatening influenza pneumonitis
  • Q. Zhang
  • Biology, Medicine
  • Human Genetics
  • 2020
TLDR
Human genetic studies have clearly revealed that seemingly sporadic and isolated life-threatening influenza pneumonitis in otherwise healthy individuals can be genetic and often in patients with no other severe infections. Expand
Defective interferon priming and impaired antiviral responses in a patient with an IRF7 variant and severe influenza
TLDR
An adult patient with severe influenza virus A (IAV) infection is described, in whom a rare variant E331V in IFN regulatory factor (IRF)7 is identified by whole-exome sequencing, providing further support for the essential role of IRF7 in amplifying antiviral IFN responses to ensure potent and sustained IFn responses during influenza virus infection in humans. Expand
...
1
2
3
4
5
...