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Article ; Online: Human genetics of meningococcal infections.

Hodeib, Stephanie / Herberg, Jethro A / Levin, Michael / Sancho-Shimizu, Vanessa

2020 Volume 139, Issue 6-7, Page(s) 961–980

Abstract: Neisseria meningitidis is a leading cause of bacterial septicaemia and meningitis worldwide. Meningococcal disease is rare but can be life threatening with a tendency to affect children. Many studies have investigated the role of human genetics in ... ...

Abstract	Neisseria meningitidis is a leading cause of bacterial septicaemia and meningitis worldwide. Meningococcal disease is rare but can be life threatening with a tendency to affect children. Many studies have investigated the role of human genetics in predisposition to N. meningitidis infection. These have identified both rare single-gene mutations as well as more common polymorphisms associated with meningococcal disease susceptibility and severity. These findings provide clues to the pathogenesis of N. meningitidis, the basis of host susceptibility to infection and to the aetiology of severe disease. From the multiple discoveries of monogenic complement deficiencies to the associations of complement factor H and complement factor H-related three polymorphisms to meningococcal disease, the complement pathway is highlighted as being central to the genetic control of meningococcal disease. This review aims to summarise the current understanding of the host genetic basis of meningococcal disease with respect to the different stages of meningococcal infection.
MeSH term(s)	Complement Factor H/genetics ; Genetic Predisposition to Disease ; Human Genetics ; Humans ; Meningococcal Infections/genetics ; Meningococcal Infections/immunology ; Meningococcal Infections/microbiology ; Neisseria meningitidis/pathogenicity ; Polymorphism, Genetic ; Virulence/genetics
Chemical Substances	CFH protein, human ; Complement Factor H (80295-65-4)
Language	English
Publishing date	2020-02-17
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-020-02128-4
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Article ; Online: Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.

Horesh, Michael E / Martin-Fernandez, Marta / Gruber, Conor / Buta, Sofija / Le Voyer, Tom / Puzenat, Eve / Lesmana, Harry / Wu, Yiming / Richardson, Ashley / Stein, David / Hodeib, Stephanie / Youssef, Mariam / Kurowski, Jacob A / Feuille, Elizabeth / Pedroza, Luis A / Fuleihan, Ramsay L / Haseley, Alexandria / Hovnanian, Alain / Quartier, Pierre /

The Journal of experimental medicine

2024 Volume 221, Issue 6

Language	English
Publishing date	2024-05-06
Publishing country	United States
Document type	Published Erratum
ZDB-ID	218343-2
ISSN	1540-9538 ; 0022-1007
ISSN (online)	1540-9538
ISSN	0022-1007
DOI	10.1084/jem.2023238704302024c
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Article ; Online: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.

The Journal of experimental medicine

2024 Volume 221, Issue 6

Abstract: Inborn errors of immunity lead to autoimmunity, inflammation, allergy, infection, and/or malignancy. Disease-causing JAK1 gain-of-function (GoF) mutations are considered exceedingly rare and have been identified in only four families. Here, we use ... ...

Abstract	Inborn errors of immunity lead to autoimmunity, inflammation, allergy, infection, and/or malignancy. Disease-causing JAK1 gain-of-function (GoF) mutations are considered exceedingly rare and have been identified in only four families. Here, we use forward and reverse genetics to identify 59 individuals harboring one of four heterozygous JAK1 variants. In vitro and ex vivo analysis of these variants revealed hyperactive baseline and cytokine-induced STAT phosphorylation and interferon-stimulated gene (ISG) levels compared with wild-type JAK1. A systematic review of electronic health records from the BioME Biobank revealed increased likelihood of clinical presentation with autoimmunity, atopy, colitis, and/or dermatitis in JAK1 variant-positive individuals. Finally, treatment of one affected patient with severe atopic dermatitis using the JAK1/JAK2-selective inhibitor, baricitinib, resulted in clinically significant improvement. These findings suggest that individually rare JAK1 GoF variants may underlie an emerging syndrome with more common presentations of autoimmune and inflammatory disease (JAACD syndrome). More broadly, individuals who present with such conditions may benefit from genetic testing for the presence of JAK1 GoF variants.
MeSH term(s)	Humans ; Autoimmunity ; Colitis/genetics ; Hypersensitivity ; Inflammation ; Dermatitis ; Janus Kinase 1/genetics
Chemical Substances	JAK1 protein, human (EC 2.7.10.2) ; Janus Kinase 1 (EC 2.7.10.2)
Language	English
Publishing date	2024-04-02
Publishing country	United States
Document type	Systematic Review ; Journal Article
ZDB-ID	218343-2
ISSN	1540-9538 ; 0022-1007
ISSN (online)	1540-9538
ISSN	0022-1007
DOI	10.1084/jem.20232387
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Article ; Online: A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease.

Mashbat, Bayarchimeg / Bellos, Evangelos / Hodeib, Stephanie / Bidmos, Fadil / Thwaites, Ryan S / Lu, Yaxuan / Wright, Victoria J / Herberg, Jethro A / Klobassa, Daniela S / Zenz, Werner / Hansel, Trevor T / Nadel, Simon / Langford, Paul R / Schlapbach, Luregn J / Li, Ming-Shi / Redinbo, Matthew R / Di, Y Peter / Levin, Michael / Sancho-Shimizu, Vanessa

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America

2019 Volume 70, Issue 10, Page(s) 2045–2053

Abstract: Background: Neisseria meningitidis (Nm) is a nasopharyngeal commensal carried by healthy individuals. However, invasive infections occurs in a minority of individuals, with devastating consequences. There is evidence that common polymorphisms are ... ...

Abstract	Background: Neisseria meningitidis (Nm) is a nasopharyngeal commensal carried by healthy individuals. However, invasive infections occurs in a minority of individuals, with devastating consequences. There is evidence that common polymorphisms are associated with invasive meningococcal disease (IMD), but the contributions of rare variants other than those in the complement system have not been determined. Methods: We identified familial cases of IMD in the UK meningococcal disease study and the European Union Life-Threatening Infectious Disease Study. Candidate genetic variants were identified by whole-exome sequencing of 2 patients with familial IMD. Candidate variants were further validated by in vitro assays. Results: Exomes of 2 siblings with IMD identified a novel heterozygous missense mutation in BPIFA1/SPLUNC1. Sequencing of 186 other nonfamilial cases identified another unrelated IMD patient with the same mutation. SPLUNC1 is an innate immune defense protein expressed in the nasopharyngeal epithelia; however, its role in invasive infections is unknown. In vitro assays demonstrated that recombinant SPLUNC1 protein inhibits biofilm formation by Nm, and impedes Nm adhesion and invasion of human airway cells. The dominant negative mutant recombinant SPLUNC1 (p.G22E) showed reduced antibiofilm activity, increased meningococcal adhesion, and increased invasion of cells, compared with wild-type SPLUNC1. Conclusions: A mutation in SPLUNC1 affecting mucosal attachment, biofilm formation, and invasion of mucosal epithelial cells is a new genetic cause of meningococcal disease.
MeSH term(s)	Complement System Proteins ; Epithelial Cells ; Glycoproteins/genetics ; Humans ; Meningococcal Infections/genetics ; Meningococcal Infections/microbiology ; Mutation ; Neisseria meningitidis/genetics ; Phosphoproteins/genetics
Chemical Substances	BPIFA1 protein, human ; Glycoproteins ; Phosphoproteins ; Complement System Proteins (9007-36-7)
Language	English
Publishing date	2019-09-09
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1099781-7
ISSN	1537-6591 ; 1058-4838
ISSN (online)	1537-6591
ISSN	1058-4838
DOI	10.1093/cid/ciz600
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Article ; Online: Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Zhang, Qian / Bastard, Paul / Liu, Zhiyong / Le Pen, Jérémie / Moncada-Velez, Marcela / Chen, Jie / Ogishi, Masato / Sabli, Ira K.D. / Hodeib, Stephanie / Korol, Cecilia / Rosain, Jérémie / Bilguvar, Kaya / Ye, Junqiang / Bolze, Alexandre / Bigio, Benedetta / Yang, Rui / Arias, Andrés Augusto / Zhou, Qinhua / Zhang, Yu /

Onodi, Fanny / Korniotis, Sarantis / Karpf, Léa / Philippot, Quentin / Chbihi, Marwa / Bonnet-Madin, Lucie / Dorgham, Karim / Smith, Nikaïa / Schneider, William M. / Razooky, Brandon S. / Hoffmann, Hans Heinrich / Michailidis, Eleftherios / Moens, Leen / Han, Ji Eun / Lorenzo, Lazaro / Bizien, Lucy / Meade, Philip / Neehus, Anna Lena / Ugurbil, Aileen Camille / Corneau, Aurélien / Kerner, Gaspard / Zhang, Peng / Rapaport, Franck / Seeleuthner, Yoann / Manry, Jeremy / Masson, Cecile / Schmitt, Yohann / Schlüter, Agatha / Li, Juan / Mogensen, Trine H. / Casanova, Jean Laurent

Zhang , Q , Bastard , P , Liu , Z , Le Pen , J , Moncada-Velez , M , Chen , J , Ogishi , M , Sabli , I K D , Hodeib , S , Korol , C , Rosain , J , Bilguvar , K , Ye , J , Bolze , A , Bigio , B , Yang , R , Arias , A A , Zhou , Q , Zhang , Y , Onodi , F , Korniotis , S , Karpf , L , Philippot , Q , Chbihi , M , Bonnet-Madin , L , Dorgham , K , Smith , N , Schneider , W M , Razooky , B S , Hoffmann , H H , Michailidis , E , Moens , L , Han , J E , Lorenzo , L , Bizien , L , Meade , P , Neehus , A L , Ugurbil , A C , Corneau , A , Kerner , G , Zhang , P , Rapaport , F , Seeleuthner , Y , Manry , J , Masson , C , Schmitt , Y , Schlüter , A , Li , J , Mogensen , T H , Casanova , J L , COVID-STORM Clinicians , COVID Clinicians , Imagine COVID Group , French COVID Cohort Study Group , CoV-Contact Cohort , Amsterdam UMC Covid-19 Biobank , COVID Human Genetic Effort & NIAID-USUHS/TAGC COVID Immunity Group 2020 , ' Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 ' , Science , vol. 370 , no. 6515 . https://doi.org/10.1126/science.abd4570

2020

Abstract: Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19). We have found an enrichment in rare variants predicted to be loss-of-function ( ... ...

Abstract	Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19). We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern Toll-like receptor 3 (TLR3)- and interferon regulatory factor 7 (IRF7)-dependent type I interferon (IFN) immunity to influenza virus in 659 patients with life-threatening COVID-19 pneumonia relative to 534 subjects with asymptomatic or benign infection. By testing these and other rare variants at these 13 loci, we experimentally defined LOF variants underlying autosomal-recessive or autosomal-dominant deficiencies in 23 patients (3.5%) 17 to 77 years of age. We show that human fibroblasts with mutations affecting this circuit are vulnerable to SARS-CoV-2. Inborn errors of TLR3- and IRF7-dependent type I IFN immunity can underlie life-threatening COVID-19 pneumonia in patients with no prior severe infection.
Keywords	covid19
Subject code	616
Language	English
Publishing country	dk
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Zhang, Qian / Bastard, Paul / Liu, Zhiyong / Le Pen, Jérémie / Moncada-Velez, Marcela / Chen, Jie / Ogishi, Masato / Sabli, Ira K D / Hodeib, Stephanie / Korol, Cecilia / Rosain, Jérémie / Bilguvar, Kaya / Ye, Junqiang / Bolze, Alexandre / Bigio, Benedetta / Yang, Rui / Arias, Andrés Augusto / Zhou, Qinhua / Zhang, Yu /

Onodi, Fanny / Korniotis, Sarantis / Karpf, Léa / Philippot, Quentin / Chbihi, Marwa / Bonnet-Madin, Lucie / Dorgham, Karim / Smith, Nikaïa / Schneider, William M / Razooky, Brandon S / Hoffmann, Hans-Heinrich / Michailidis, Eleftherios / Moens, Leen / Han, Ji Eun / Lorenzo, Lazaro / Bizien, Lucy / Meade, Philip / Neehus, Anna-Lena / Ugurbil, Aileen Camille / Corneau, Aurélien / Kerner, Gaspard / Zhang, Peng / Rapaport, Franck / Seeleuthner, Yoann / Manry, Jeremy / Masson, Cecile / Schmitt, Yohann / Schlüter, Agatha / Le Voyer, Tom / Khan, Taushif / Li, Juan / Fellay, Jacques / Roussel, Lucie / Shahrooei, Mohammad / Alosaimi, Mohammed F / Mansouri, Davood / Al-Saud, Haya / Al-Mulla, Fahd / Almourfi, Feras / Al-Muhsen, Saleh Zaid / Alsohime, Fahad / Al Turki, Saeed / Hasanato, Rana / van de Beek, Diederik / Biondi, Andrea / Bettini, Laura Rachele / D'Angio', Mariella / Bonfanti, Paolo / Imberti, Luisa / Sottini, Alessandra / Paghera, Simone / Quiros-Roldan, Eugenia / Rossi, Camillo / Oler, Andrew J / Tompkins, Miranda F / Alba, Camille / Vandernoot, Isabelle / Goffard, Jean-Christophe / Smits, Guillaume / Migeotte, Isabelle / Haerynck, Filomeen / Soler-Palacin, Pere / Martin-Nalda, Andrea / Colobran, Roger / Morange, Pierre-Emmanuel / Keles, Sevgi / Çölkesen, Fatma / Ozcelik, Tayfun / Yasar, Kadriye Kart / Senoglu, Sevtap / Karabela, Şemsi Nur / Rodríguez-Gallego, Carlos / Novelli, Giuseppe / Hraiech, Sami / Tandjaoui-Lambiotte, Yacine / Duval, Xavier / Laouénan, Cédric / Snow, Andrew L / Dalgard, Clifton L / Milner, Joshua D / Vinh, Donald C / Mogensen, Trine H / Marr, Nico / Spaan, András N / Boisson, Bertrand / Boisson-Dupuis, Stéphanie / Bustamante, Jacinta / Puel, Anne / Ciancanelli, Michael J / Meyts, Isabelle / Maniatis, Tom / Soumelis, Vassili / Amara, Ali / Nussenzweig, Michel / García-Sastre, Adolfo / Krammer, Florian / Pujol, Aurora / Duffy, Darragh / Lifton, Richard P / Zhang, Shen-Ying / Gorochov, Guy / Béziat, Vivien / Jouanguy, Emmanuelle / Sancho-Shimizu, Vanessa / Rice, Charles M / Abel, Laurent / Notarangelo, Luigi D / Cobat, Aurélie / Su, Helen C / Casanova, Jean-Laurent

Science (New York, N.Y.)

2020 Volume 370, Issue 6515

Abstract	Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19). We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern Toll-like receptor 3 (TLR3)- and interferon regulatory factor 7 (IRF7)-dependent type I interferon (IFN) immunity to influenza virus in 659 patients with life-threatening COVID-19 pneumonia relative to 534 subjects with asymptomatic or benign infection. By testing these and other rare variants at these 13 loci, we experimentally defined LOF variants underlying autosomal-recessive or autosomal-dominant deficiencies in 23 patients (3.5%) 17 to 77 years of age. We show that human fibroblasts with mutations affecting this circuit are vulnerable to SARS-CoV-2. Inborn errors of TLR3- and IRF7-dependent type I IFN immunity can underlie life-threatening COVID-19 pneumonia in patients with no prior severe infection.
MeSH term(s)	Adolescent ; Adult ; Aged ; Aged, 80 and over ; Alleles ; Asymptomatic Infections ; Betacoronavirus ; COVID-19 ; Child ; Child, Preschool ; Coronavirus Infections/genetics ; Coronavirus Infections/immunology ; Female ; Genetic Loci ; Genetic Predisposition to Disease ; Humans ; Infant ; Interferon Regulatory Factor-7/deficiency ; Interferon Regulatory Factor-7/genetics ; Interferon Type I/immunology ; Loss of Function Mutation ; Male ; Middle Aged ; Pandemics ; Pneumonia, Viral/genetics ; Pneumonia, Viral/immunology ; Receptor, Interferon alpha-beta/deficiency ; Receptor, Interferon alpha-beta/genetics ; SARS-CoV-2 ; Toll-Like Receptor 3/deficiency ; Toll-Like Receptor 3/genetics ; Young Adult
Chemical Substances	IFNAR1 protein, human ; IRF7 protein, human ; Interferon Regulatory Factor-7 ; Interferon Type I ; TLR3 protein, human ; Toll-Like Receptor 3 ; Receptor, Interferon alpha-beta (156986-95-7)
Keywords	covid19
Language	English
Publishing date	2020-09-24
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	128410-1
ISSN	1095-9203 ; 0036-8075
ISSN (online)	1095-9203
ISSN	0036-8075
DOI	10.1126/science.abd4570
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Article ; Online: Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Zhang, Qian / Bastard, Paul / Liu, Zhiyong / Le Pen, Jérémie / Moncada-Velez, Marcela / Chen, Jie / Ogishi, Masato / Sabli, Ira / Hodeib, Stephanie / Korol, Cecilia / Rosain, Jérémie / Bilguvar, Kaya / Ye, Junqiang / Bolze, Alexandre / Bigio, Benedetta / Yang, Rui / Arias, Andrés Augusto / Zhou, Qinhua / Zhang, Yu /

Onodi, Fanny / Korniotis, Sarantis / Karpf, Léa / Philippot, Quentin / Chbihi, Marwa / Bonnet-Madin, Lucie / Dorgham, Karim / Smith, Nikaïa / Schneider, William / Razooky, Brandon / Hoffmann, Hans-Heinrich / Michailidis, Eleftherios / Moens, Leen / Han, Ji Eun / Lorenzo, Lazaro / Bizien, Lucy / Meade, Philip / Neehus, Anna-Lena / Ugurbil, Aileen Camille / Corneau, Aurélien / Kerner, Gaspard / Zhang, Peng / Rapaport, Franck / Seeleuthner, Yoann / Manry, Jeremy / Masson, Cecile / Schmitt, Yohann / Schlüter, Agatha / Le Voyer, Tom / Khan, Taushif / Li, Juan / Fellay, Jacques / Roussel, Lucie / Shahrooei, Mohammad / Alosaimi, Mohammed / Mansouri, Davood / Al-Saud, Haya / Al-Mulla, Fahd / Almourfi, Feras / Al-Muhsen, Saleh Zaid / Alsohime, Fahad / Al Turki, Saeed / Hasanato, Rana / Van De Beek, Diederik / Biondi, Andrea / Bettini, Laura Rachele / D’Angio, Mariella / Bonfanti, Paolo / Imberti, Luisa / Sottini, Alessandra / Paghera, Simone / Quiros-Roldan, Eugenia / Rossi, Camillo / Oler, Andrew / Tompkins, Miranda / Alba, Camille / Vandernoot, Isabelle / Goffard, Jean-Christophe / Smits, Guillaume / Migeotte, Isabelle / Haerynck, Filomeen / Soler-Palacin, Pere / Martin-Nalda, Andrea / Colobran, Roger / Morange, Pierre-Emmanuel / Keles, Sevgi / Çölkesen, Fatma / Ozcelik, Tayfun / Yasar, Kadriye Kart / Senoglu, Sevtap / Karabela, Şemsi Nur / Gallego, Carlos Rodríguez / Novelli, Giuseppe / Hraiech, Sami / Tandjaoui-Lambiotte, Yacine / Duval, Xavier / Laouénan, Cédric / Snow, Andrew / Dalgard, Clifton / Milner, Joshua / Vinh, Donald / Mogensen, Trine / Marr, Nico / Spaan, András / Boisson, Bertrand / Boisson-Dupuis, Stéphanie / Bustamante, Jacinta / Puel, Anne / Ciancanelli, Michael / Meyts, Isabelle / Maniatis, Tom / Soumelis, Vassili / Amara, Ali / Nussenzweig, Michel / García-Sastre, Adolfo / Krammer, Florian / Pujol, Aurora / Duffy, Darragh / Lifton, Richard / Zhang, Shen-Ying / Gorochov, Guy / Béziat, Vivien / Jouanguy, Emmanuelle / Sancho-Shimizu, Vanessa / Rice, Charles / Abel, Laurent / Notarangelo, Luigi / Cobat, Aurélie / Su, Helen / Casanova, Jean-Laurent

ISSN: 0036-8075 ; EISSN: 1095-9203 ; Science ; https://hal.archives-ouvertes.fr/hal-02950982 ; Science, American Association for the Advancement of Science, 2020, pp.eabd4570. ⟨10.1126/science.abd4570⟩

2020

Abstract: International ... ...

Abstract	International audience
Keywords	[SDV]Life Sciences [q-bio] ; covid19
Language	English
Publishing date	2020-09-24
Publisher	HAL CCSD
Publishing country	fr
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

2020

Abstract: International ... ...

Abstract	International audience
Keywords	[SDV]Life Sciences [q-bio] ; covid19
Language	English
Publishing date	2020-09-24
Publisher	HAL CCSD
Publishing country	fr
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

2020

Abstract: International ... ...

Abstract	International audience
Keywords	[SDV]Life Sciences [q-bio] ; covid19
Language	English
Publishing date	2020-09-24
Publisher	HAL CCSD
Publishing country	fr
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Onodi, Fanny / Korniotis, Sarantis / Karpf, Léa / Philippot, Quentin / Chbihi, Marwa / Bonnet-Madin, Lucie / Dorgham, Karim / Smith, Nikaïa / Schneider, William M / Razooky, Brandon S / Hoffmann, Hans-Heinrich / Michailidis, Eleftherios / Moens, Leen / Han, Ji Eun / Lorenzo, Lazaro / Bizien, Lucy / Meade, Philip / Neehus, Anna-Lena / Ugurbil, Aileen Camille / Corneau, Aurélien / Kerner, Gaspard / Zhang, Peng / Rapaport, Franck / Seeleuthner, Yoann / Manry, Jeremy / Masson, Cecile / Schmitt, Yohann / Schlüter, Agatha / Le Voyer, Tom / Khan, Taushif / Li, Juan / Fellay, Jacques / Roussel, Lucie / Shahrooei, Mohammad / Alosaimi, Mohammed F / Mansouri, Davood / Al-Saud, Haya / Al-Mulla, Fahd / Almourfi, Feras / Al-Muhsen, Saleh Zaid / Alsohime, Fahad / Al Turki, Saeed / Hasanato, Rana / van de Beek, Diederik / Biondi, Andrea / Bettini, Laura Rachele / D'Angio, Mariella / Bonfanti, Paolo / Imberti, Luisa / Sottini, Alessandra / Paghera, Simone / Quiros-Roldan, Eugenia / Rossi, Camillo / Oler, Andrew J / Tompkins, Miranda F / Alba, Camille / Vandernoot, Isabelle / Goffard, Jean-Christophe / Smits, Guillaume / Migeotte, Isabelle / Haerynck, Filomeen / Soler-Palacin, Pere / Martin-Nalda, Andrea / Colobran, Roger / Morange, Pierre-Emmanuel / Keles, Sevgi / Çölkesen, Fatma / Ozcelik, Tayfun / Yasar, Kadriye Kart / Senoglu, Sevtap / Karabela, Şemsi Nur / Gallego, Carlos Rodríguez / Novelli, Giuseppe / Hraiech, Sami / Tandjaoui-Lambiotte, Yacine / Duval, Xavier / Laouénan, Cédric / Snow, Andrew L / Dalgard, Clifton L / Milner, Joshua / Vinh, Donald C / Mogensen, Trine H / Marr, Nico / Spaan, András N / Boisson, Bertrand / Boisson-Dupuis, Stéphanie / Bustamante, Jacinta / Puel, Anne / Ciancanelli, Michael / Meyts, Isabelle / Maniatis, Tom / Soumelis, Vassili / Amara, Ali / Nussenzweig, Michel / García-Sastre, Adolfo / Krammer, Florian / Pujol, Aurora / Duffy, Darragh / Lifton, Richard / Zhang, Shen-Ying / Gorochov, Guy / Béziat, Vivien / Jouanguy, Emmanuelle / Sancho-Shimizu, Vanessa / Rice, Charles M / Abel, Laurent / Notarangelo, Luigi D / Cobat, Aurélie / Su, Helen C / Casanova, Jean-Laurent

2020

Abstract: Clinical outcome upon infection with SARS-CoV-2 ranges from silent infection to lethal COVID-19. We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern TLR3- and IRF7-dependent type I ... ...

Abstract	Clinical outcome upon infection with SARS-CoV-2 ranges from silent infection to lethal COVID-19. We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern TLR3- and IRF7-dependent type I interferon (IFN) immunity to influenza virus, in 659 patients with life-threatening COVID-19 pneumonia, relative to 534 subjects with asymptomatic or benign infection. By testing these and other rare variants at these 13 loci, we experimentally define LOF variants in 23 patients (3.5%), aged 17 to 77 years, underlying autosomal recessive or dominant deficiencies. We show that human fibroblasts with mutations affecting this pathway are vulnerable to SARS-CoV-2. Inborn errors of TLR3- and IRF7-dependent type I IFN immunity can underlie life-threatening COVID-19 pneumonia in patients with no prior severe infection.
Keywords	covid19
Language	English
Publishing country	it
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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