12 research outputs found
Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation
- Author
- Publication venue
- 'Rockefeller University Press'
- Publication date
- Field of study
Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity
- Author
- Abel Laurent
- Aiuti Alessandro
- Al-Muhsen Salah
- Al-Muhsen Saleh
- Al-Mulla Fahd
- Anderson Mark S.
- Andreakos Evangelos
- Arias Andrés A.
- Belot Alexandre
- Biggs Catherine M.
- Bousfiha Ahmed A.
- Brodin Petter
- Casanova Jean-Laurent
- Christodoulou John
- Colobran Roger
- Condino-Neto Antonio
- Dalgard Clifton L.
- Espinosa-Padilla Sara
- Feldman Hagit Baris
- Fellay Jacques
- Flores Carlos
- Franco José Luis
- Froidure Antoine
- Haerynck Filomeen
- Halwani Rabih
- Hammarström Lennart
- Henrickson Sarah E.
- Hsieh Elena W. Y.
- Itan Yuval
- Karamitros Timokratis
- Lau Yu-Lung
- Mansouri Davood
- Meyts Isabelle
- Mogensen Trine H.
- Morio Tomohiro
- Ng Lisa F. P.
- Notarangelo Luigi D.
- Novelli Antonio
- Novelli Giuseppe
- Okada Satoshi
- Okamoto Keisuke
- Ozcelik Tayfun
- Pan-Hammarström Qiang
- Pelin David S.
- Perez de Diego Rebeca
- Pesole Graziano
- Prando Carolina
- Pujol Aurora
- Renia Laurent
- Resnick Igor
- Rodríguez-Gallego Carlos
- Sancho-Shimizu Vanessa
- Seppänen Mikko R. J.
- Shcherbina Anna
- Snow Andrew L.
- Soler-Palacín Pere
- Spaan András N.
- Su Helen C.
- Tancevski Ivan
- Tangye Stuart G.
- Tangye Stuart G.
- Tayoun Ahmad Abou
- Temel Sehime G.
- Turvey Stuart E.
- Uddin Mohammed J.
- van de Beek Diederik
- Vinh Donald C.
- Wauters Joost
- Zatz Mayana
- Publication venue
- Publication date
- 01/01/2023
- Field of study
Since the arrival of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in December 2019, its characterization as a novel human pathogen, and the resulting coronavirus disease 2019 (COVID-19) pandemic, over 6.5 million people have died worldwide-a stark and sobering reminder of the fundamental and nonredundant roles of the innate and adaptive immune systems in host defense against emerging pathogens. Inborn errors of immunity (IEI) are caused by germline variants, typically in single genes. IEI are characterized by defects in development and/or function of cells involved in immunity and host defense, rendering individuals highly susceptible to severe, recurrent, and sometimes fatal infections, as well as immune dysregulatory conditions such as autoinflammation, autoimmunity, and allergy. The study of IEI has revealed key insights into the molecular and cellular requirements for immune-mediated protection against infectious diseases. Indeed, this has been exemplified by assessing the impact of SARS-CoV-2 infection in individuals with previously diagnosed IEI, as well as analyzing rare cases of severe COVID-19 in otherwise healthy individuals. This approach has defined fundamental aspects of mechanisms of disease pathogenesis, immunopathology in the context of infection with a novel pathogen, and therapeutic options to mitigate severe disease. This review summarizes these findings and illustrates how the study of these rare experiments of nature can inform key features of human immunology, which can then be leveraged to improve therapies for treating emerging and established infectious diseases. (J Allergy Clin Immunol 2023;151:818-31.
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
- Author
- Abel Laurent
- Abel Laurent
- Abolhassani Hassan
- Abolhassani Hassan
- Abou Tayoun Ahmad
- Aiuti Alessandro
- Akcan Ozge Metin
- Al-Muhsen Saleh
- Al-Mulla Fahd
- Alkan Gulsum
- Anderson Mark S.
- Andreakos Evangelos
- Arias Andrés A.
- Asano Takaki
- Baris Feldman Hagit
- Bastard Paul
- Bayhan Gulsum Ical
- Belot Alexandre
- Biggs Catherine M.
- Bizien Lucy
- Bogunovic Dusan
- Bohlen Jonathan
- Boisson Bertrand
- Boisson-Dupuis Stéphanie
- Bolze Alexandre
- Bondarenko Anastasiia
- Bousfiha Ahmed A.
- Bozdemir Sefika Elmas
- Brodin Petter
- Bryceson Yenan
- Bucciol Giorgia
- Bustamante Carlos D.
- Butte Manish J.
- Casanova Jean-Laurent
- Casanova Jean-Laurent
- Casari Giorgio
- Christodoulou John
- Cobat Aurélie
- Colobran Roger
- Condino-Neto Antonio
- Constantinescu Stefan N.
- Cooper Megan A.
- Dalgard Clifton L.
- Dalgard Clifton L.
- De Somer Lien
- Delafontaine Selket
- Desai Murkesh
- Drolet Beth A.
- El Baghdadi Jamila
- El Bakkouri Jalila
- Emiroglu Melike
- Erdeniz Emine Hafize
- Espinosa-Padilla Sara
- Fellay Jacques
- Flores Carlos
- Florkin Benoit
- Franco José Luis
- Froidure Antoine
- Gregersen Peter K.
- Grimbacher Bodo
- Gulhan Belgin
- Haerynck Filomeen
- Haerynck Filomeen
- Hagin David
- Halwani Rabih
- Hammarström Lennart
- Hammarström Lennart
- Hancerli Selda
- Hatipoglu Nevin
- Heath James R.
- Henrickson Sarah E.
- Hsieh Elena W. Y.
- Husebye Eystein
- Imai Kohsuke
- Itan Yuval
- Jabandziev Petr
- Jarvis Erich D.
- Jing Huie
- Jouanguy Emmanuelle
- Kanik Yuksek Saliha
- Karamitros Timokratis
- Karbuz Adem
- Keles Sevgi
- Kendir-Demirkol Yasemin
- Kisand Kai
- Kiykim Ayca
- Ku Cheng-Lung
- Lau Yu-Lung
- Le Pen Jérémie
- Lee Danyel
- Leo Yee-Sin
- Lifton Richard P.
- Ling Yun
- Liu Zhiyong
- Lucas Carrie L.
- Lye David Chien
- Maniatis Tom
- Mansouri Davood
- Marchal Astrid
- Maródi László
- Matuozzo Daniela
- Metin Ayse
- Meyts Isabelle
- Meyts Isabelle
- Milner Joshua D.
- Mironska Kristina
- Moens Leen
- Mogensen Trine H.
- Moncada-Velez Marcela
- Morelle Guillaume
- Morio Tomohiro
- Ng Lisa F. P.
- Ng Lisa F. P.
- Notarangelo Luigi D.
- Novelli Antonio
- Novelli Giuseppe
- null null
- O'Farrelly Cliona
- Okada Satoshi
- Okamoto Keisuke
- Ozcelik Tayfun
- Ozcelik Tayfun
- Pan-Hammarström Qiang
- Pan-Hammarström Qiang
- Papadaki Maria
- Pape Jean W.
- Parlakay Aslinur Ozkaya
- Perez de Diego Rebeca
- Perlin David S.
- Pesole Graziano
- Planas Anna M.
- Pokorna Petra
- Prando Carolina
- Pujol Aurora
- Quintana-Murci Lluis
- Ramaswamy Sathishkumar
- Renia Laurent
- Renia Laurent
- Resnick Igor
- Rice Charles M.
- Rivière Jacques G.
- Rodríguez-Gallego Carlos
- Sancho-Shimizu Vanessa
- Sediva Anna
- Seppänen Mikko R. J.
- Shahrooei Mohammed
- Shcherbina Anna
- Slaba Katerina
- Slaby Ondrej
- Snow Andrew L.
- Soler-Palacín Pere
- Spaan András N.
- Su Helen C.
- Su Helen C.
- Tancevski Ivan
- Tangye Stuart G.
- Thanos Dimitris
- Turvey Stuart E.
- Tüter Öz Şadiye Kübra
- Uddin K M Furkan
- Uddin Mohammed J.
- van de Beek Diederik
- Vermeulen François
- Vinh Donald C.
- von Bernuth Horst
- Wauters Joost
- Wouters Carine
- Yahsi Aysun
- Young Barnaby Edward
- Zatz Mayana
- Zatz Mayana
- Zawadzki Pawel
- Zhang Qian
- Zhang Shen-Ying
- Publication venue
- Publication date
- 01/01/2022
- Field of study
In an international cohort of 112 children hospitalized for moderate to critical COVID-19 pneumonia, we identified 12 children with one of four known recessive inborn errors of type I interferon immunity: X-linked TLR7 and autosomal IFNAR1, STAT2, and TYK2 deficiencies.Recessive or dominant inborn errors of type I interferon (IFN) immunity can underlie critical COVID-19 pneumonia in unvaccinated adults. The risk of COVID-19 pneumonia in unvaccinated children, which is much lower than in unvaccinated adults, remains unexplained. In an international cohort of 112 children (<16 yr old) hospitalized for COVID-19 pneumonia, we report 12 children (10.7%) aged 1.5-13 yr with critical (7 children), severe (3), and moderate (2) pneumonia and 4 of the 15 known clinically recessive and biochemically complete inborn errors of type I IFN immunity: X-linked recessive TLR7 deficiency (7 children) and autosomal recessive IFNAR1 (1), STAT2 (1), or TYK2 (3) deficiencies. Fibroblasts deficient for IFNAR1, STAT2, or TYK2 are highly vulnerable to SARS-CoV-2. These 15 deficiencies were not found in 1,224 children and adults with benign SARS-CoV-2 infection without pneumonia (P = 1.2 x 10(-11)) and with overlapping age, sex, consanguinity, and ethnicity characteristics. Recessive complete deficiencies of type I IFN immunity may underlie similar to 10% of hospitalizations for COVID-19 pneumonia in children
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children
- Author
- Abel Laurent
- Abi Haidar Anthony
- Abolhassani Hassan
- Ahlijah Gloria
- Andreakos Evangelos
- Arseguel Vincent
- Asano Takaki
- Bastard Paul
- Belot Alexandre
- Béziat Vivien
- Bizien Lucy
- Boisson Bertrand
- Borghesi Alessandro
- Bousfiha Ahmed A
- Brodin Petter
- Casanova Jean-Laurent
- Cheikh Nathalie
- Chrousos George P
- Cobat Aurélie
- Colobran Roger
- Condino-Neto Antonio
- Conti Francesca
- Duvlis Sotirija
- El Bakkouri Jalila
- Escoda Simon
- Filippatos Filippos
- Garcia-Prat Marina
- Gervais Adrian
- Gonzalez-Granado Luis I
- Gómez-Carballa Alberto
- Haerynck Filomeen
- Hammarström Lennart
- Hayakawa Seiichi
- Husain Maya
- Javouhey Etienne
- Jouanguy Emmanuelle
- Keles Sevgi
- Kisand Kai
- Le Voyer Tom
- Lévy Romain
- Marr Nico
- Martinón-Torres Federico
- Mentis Alexios-Fotios A
- Meyts Isabelle
- Michos Athanasios
- Migaud Mélanie
- Mogensen Trine H
- Morio Tomohiro
- Neven Bénédicte
- Nukui Yoko
- Okada Satoshi
- Ostrowski Sisse Rye
- Ozcelik Tayfun
- Pan-Hammarström Qiang
- Parra-Martínez Alba
- Pession Andrea
- Peterson Pärt
- Philippot Quentin
- Prando Carolina
- Puel Anne
- Pujol Aurora
- Quartier Pierre
- Rivière Jacques G
- Rodriguez-Palmero Agusti
- Rodríguez-Gallego Carlos
- Rosain Jérémie
- Roussel Lucie
- Saare Liisa
- Sahanic Sabina
- Salas Antonio
- Särekannu Karita
- Schidlowski Laire
- Soler-Palacin Pere
- Soudee Camille
- Tanaka Junko
- Tancevski Ivan
- Tandjaoui-Lambiotte Yacine
- Taniguchi Maki
- Tatsi Elizabeth-Barbara
- Tillmann Vallo
- Tipu Imran
- Trouillet-Assant Sophie
- Troya Jesus
- Tsumura Miyuki
- Vinh Donald C
- Zhang Qian
- Zhang Shen-Ying
- Publication venue
- Publication date
- 01/01/2024
- Field of study
We found that 19 (10.4%) of 183 unvaccinated children hospitalized for COVID-19 pneumonia had autoantibodies (auto-Abs) neutralizing type I IFNs (IFN-alpha 2 in 10 patients: IFN-alpha 2 only in three, IFN-alpha 2 plus IFN-omega in five, and IFN-alpha 2, IFN-omega plus IFN-beta in two; IFN-omega only in nine patients). Seven children (3.8%) had Abs neutralizing at least 10 ng/ml of one IFN, whereas the other 12 (6.6%) had Abs neutralizing only 100 pg/ml. The auto-Abs neutralized both unglycosylated and glycosylated IFNs. We also detected auto-Abs neutralizing 100 pg/ml IFN-alpha 2 in 4 of 2,267 uninfected children (0.2%) and auto-Abs neutralizing IFN-omega in 45 children (2%). The odds ratios (ORs) for life-threatening COVID-19 pneumonia were, therefore, higher for auto-Abs neutralizing IFN-alpha 2 only (OR [95% CI] = 67.6 [5.7-9,196.6]) than for auto-Abs neutralizing IFN-. only (OR [95% CI] = 2.6 [1.2-5.3]). ORs were also higher for auto-Abs neutralizing high concentrations (OR [95% CI] = 12.9 [4.6-35.9]) than for those neutralizing low concentrations (OR [95% CI] = 5.5 [3.1-9.6]) of IFN-omega and/or IFN-alpha 2
Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis
- Author
- Abel Laurent
- Aiuti Alessandro
- Al-Muhsen Saleh
- Al-Mulla Fahd
- Amara Ali
- Anderson Mark S.
- Andreakos Evangelos
- Arias Andrés A.
- Arkin Lisa M.
- Bastard Paul
- Belot Alexandre
- Biggs Catherine M.
- Bogunovic Dusan
- Bolze Alexandre
- Borghesi Alessandro
- Bousfiha Ahmed A.
- Brodin Petter
- Butte Manish J.
- Casanova Jean-Laurent
- Christodoulou John
- Cirulli Elizabeth T.
- Cobat Aurelie
- Colobran Roger
- Condino-Neto Antonio
- Constantinescu Stefan N.
- Dalgard Clifton L.
- de Diego Rebeca Perez
- Duval Xavier
- Eloy Philippine
- Espinosa-Padilla Sara
- Feldman Hagit Baris
- Fellay Jacques
- Flores Carlos
- Franco José Luis
- Froidure Antoine
- Gorochov Guy
- Gregersen Peter K.
- Haerynck Filomeen
- Hagin David
- Halwani Rabih
- Hammarström Lennart
- Hsieh Elena W. Y.
- Itan Yuval
- Jouanguy Emmanuelle
- Karamitros Timokratis
- Lau Yu-Lung
- Mansouri Davood
- Mentre France
- Meyts Isabelle
- Mironska Kristina
- Mogensen Trine H.
- Morio Tomohiro
- Ng Lisa F. P.
- Novelli Antonio
- Novelli Giuseppe
- null null
- Okada Satoshi
- Okamoto Keisuke
- Ozcelik Tayfun
- O’Farrelly Cliona
- Pan-Hammarström Qiang
- Perez-Tur Jordi
- Perlin David S.
- Pesole Graziano
- Peter Jonny
- Planas Anna M.
- Prando Carolina
- Pujol Aurora
- Quintana-Murci Lluis
- Renia Laurent
- Resnick Igor
- Rodríguez-Gallego Carlos
- Sancho-Shimizu Vanessa
- Sediva Anna
- Seppänen Mikko R. J.
- Severe Karine
- Shahrooei Mohammed
- Shcherbina Anna
- Slaby Ondrej
- Soler-Palacín Pere
- Soumelis Vassili
- Spaan András N.
- Tancevski Ivan
- Tangye Stuart G.
- Tayoun Ahmad Abou
- Temel Şehime Gülsün
- Thorball Christian
- Tiberghien Pierre
- Trouillet-Assant Sophie
- Turvey Stuart E.
- Uddin KMFurkan
- van de Beek Diederik
- Vinh Donald C.
- von Bernuth Horst
- Zhang Qian
- Zhang Shen-Ying
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
No abstract availabl
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
- Author
- Abel Laurent
- Abel Laurent
- Aiuti Alessandro
- Al-Muhsen Saleh
- Al-Mulla Fahd
- Alavi Darazam Ilad
- Anderson Mark S.
- Andreakos Evangelos
- Arias Andres Augusto
- Arias Andrés A.
- Baris Feldman Hagit
- Bastard Paul
- Belot Alexandre
- Bergman Peter
- Biggs Catherine M.
- Bizien Lucy
- Bogunovic Dusan
- Bolze Alexandre
- Bondarenko Anastasiia
- Bousfiha Ahmed A.
- Brodin Petter
- Bryceson Yenan
- Bryceson Yenan T
- Bucciol Giorgia
- Bustamante Carlos D.
- Butte Manish J.
- Campbell Tessa Mollie
- Casanova Jean-Laurent
- Casanova Jean-Laurent
- Casari Giorgio
- Christodoulou John
- Cobat Aurélie
- Condino-Neto Antonio
- Constantinescu Stefan N.
- Cooper Megan A.
- Covill Laura E.
- Dalgard Clifton L.
- Desai Murkesh
- Drolet Beth A.
- El Baghdadi Jamila
- Espinosa-Padilla Sara
- Fellay Jacques
- Flores Carlos
- Franco José Luis
- Froidure Antoine
- Gregersen Peter K.
- Grimbacher Bodo
- Haerynck Filomeen
- Hagin David
- Halwani Rabih
- Hammarström Lennart
- Heath James R.
- Henrickson Sarah E.
- Hsieh Elena W. Y.
- Husebye Eystein
- Imai Kohsuke
- Itan Yuval
- Jarvis Erich D.
- Jouanguy Emmanuelle
- Karabela Şemsi Nur
- Karamitros Timokratis
- Kart Yaşar Kadriye
- Kendir-Demirkol Yasemin
- Khan Taushif
- Kisand Kai
- Ku Cheng-Lung
- Lau Yu-Lung
- Lind Enoksson Sara
- Ling Yun
- Liu Zhiyong
- Lucas Carrie L.
- Maniatis Tom
- Mansouri Davood
- Mansouri Davood
- Marits Per
- Maródi László
- Marr Nico
- Meyts Isabelle
- Meyts Isabelle
- Migeotte Isabelle
- Milner Joshua D.
- Mironska Kristina
- Moens Leen
- Mogensen Trine H.
- Moncada-Velez Marcela
- Morio Tomohiro
- Ng Lisa F. P.
- Notarangelo Luigi D.
- Novelli Antonio
- Novelli Giuseppe
- O'Farrelly Cliona
- Okada Satoshi
- Okamoto Keisuke
- Ozcelik Tayfun
- Ozcelik Tayfun
- Pan-Hammarström Qiang
- Papadaki Maria
- Pape Jean W.
- Pellier Isabelle
- Perez de Diego Rebeca
- Perlin David S.
- Pesole Graziano
- Planas Anna M.
- Prando Carolina
- Pujol Aurora
- Quintana-Murci Lluis
- Ramaswamy Sathishkumar
- Renia Laurent
- Resnick Igor
- Rodríguez-Gallego Carlos
- Sancho-Shimizu Vanessa
- Sediva Anna
- Sendel Anton
- Seppänen Mikko R. J.
- Shahrooei Mohammad
- Shahrooei Mohammed
- Shcherbina Anna
- Slaby Ondrej
- Smith C. I. Edvard
- Snow Andrew L.
- Soler-Palacín Pere
- Spaan András N.
- Su Helen C.
- Şenoğlu Sevtap
- Tancevski Ivan
- Tangye Stuart G.
- Tayoun Ahmad Abou
- Turvey Stuart E.
- Uddin K M Furkan
- Uddin Mohammed J.
- van de Beek Diederik
- Vandernoot Isabelle
- Vinh Donald C.
- von Bernuth Horst
- Wauters Joost
- Willekens Karen
- Zatz Mayana
- Zawadzki Pawel
- Zhang Peng
- Zhang Qian
- Publication venue
- Publication date
- 01/01/2022
- Field of study
Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients' fibroblasts and plasmacytoid dendritic cells produced no detectable type I and III IFNs, except IFN-beta. Having discovered four new patients, we describe the genetic, immunological, and clinical features of seven IRF7-deficient patients from six families and five ancestries. Five were homozygous and two were compound heterozygous for IRF7 variants. Patients typically had one episode of pulmonary viral disease. Age at onset was surprisingly broad, from 6 mo to 50 yr (mean age 29 yr). The respiratory viruses implicated included SARS-CoV-2, influenza virus, respiratory syncytial virus, and adenovirus. Serological analyses indicated previous infections with many common viruses. Cellular analyses revealed strong antiviral immunity and expanded populations of influenza- and SARS-CoV-2-specific memory CD4(+) and CD8(+)T cells. IRF7-deficient individuals are prone to viral infections of the respiratory tract but are otherwise healthy, potentially due to residual IFN-beta and compensatory adaptive immunity
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
- Author
- Abel Laurent
- Abraham Roshini S
- Aladjidi Nathalie
- Anderson Mark S
- Aranda-Guillen Maribel
- Astudillo Camila
- Atschekzei Faranaz
- Barlogis Vincent
- Bastard Paul
- Belot Alexandre
- Bengi Celik Jale
- Berrios David I
- Berteloot Laureline
- Béziat Vivien
- Bizien Lucy
- Bohlen Jonathan
- Boisson Bertrand
- Bosticardo Marita
- Boztuğ Kaan
- Bryant Vanessa L
- Bustamante Jacinta
- Casanova Jean-Laurent
- Castagnoli Riccardo
- Cederholm Axel
- Celmeli Fatih
- Charuel Jean-Luc
- Ciznar Peter
- Cobat Aurélie
- Cunningham-Rundles Charlotte
- Dalal Ilan
- Delmonte Ottavia M
- DeRisi Joseph L
- Doffinger Rainer
- Droney Luke
- Ducoux Grégoire
- Emiroglu Melike
- Eriksson Daniel
- Feng Yi
- Fieschi Claire
- Franco Gallego William Alexander
- Franco Jose
- Frosk Patrick
- Gervais Adrian
- Ghillani-Dalbin Pascale
- Goodnow Christopher C
- Gray Paul E
- Grimbacher Bodo
- Grombiříková Hana
- Gueye Mame Sokhna
- Guffroy Aurélien
- Guichard Audrey
- Hancioglu Gonca
- Hauck Fabian
- Herrmann Vera-Maria
- Hie Miguel
- Holland Steve M
- Hu Hannah
- Ikinciogullari Aydan
- Imberti Luisa
- Jouanguy Emmanuelle
- Kampe Olle
- Kane Alisa
- Katelaris Constance H
- Keles Sevgi
- Keller Baerbel
- Keller Michael D
- Kenney Heather
- Kuehn Hye Sun
- Kuijpers Taco
- Landegren Nils
- Latour Sylvain
- Lazaro Estibaliz
- Le Guenno Guillaume
- Le Voyer Tom
- Licciardi Francesco
- Liu Xian
- Lougaris Vassilios
- Ma Cindy
- Maccari Maria Elena
- Maglorius Renkilaraj Majistor Raj Luxman
- Mahlaoui Nizar
- Malphettes Marion
- McLean Catriona
- Meinhardt Andrea
- Migaud Mélanie
- Miller Corey
- Miyara Makoto
- Momenilandi Mana
- Mustillo Peter
- Müller Gabriele
- Neven Benedicte
- Nguyen Tina
- Notarangelo Luigi D
- Ogishi Masato
- Orrego Julio
- Palterer Boaz
- Pan-Hammarström Qiang
- Parent Audrey V
- Parvaneh Nima
- Pasquet Marlene
- Perez Lorenzo Malena
- Philippot Quentin
- Pinzon-Charry Alberto
- Poli M Cecilia
- Puel Anne
- Rackaityte Elze
- Raedler Johannes
- Rieux-Laucat Frédéric
- Riller Quentin
- Rinchai Darawan
- Roifman Chaim M
- Rosain Jérémie
- Rosen Lindsey B
- Rosenzweig Sergio D
- Rozenberg Flore
- Rubin Tamar
- Sarrot-Reynauld Françoise
- Schuetz Catharina
- Sediva Anna
- Servettaz Amélie
- Shahrooei Mohammad
- Slade Charlotte A
- Slatter Mary A
- Sobacchi Cristina
- Sogkas Georgios
- Soudée Camille
- Su Helen
- Suan Daniel
- Sullivan Anna
- Tangye Stuart G
- Trouillet Assant Sophie
- Vong Linda
- Warnatz Klaus
- Winter Sarah
- Wong Melanie
- Yu David
- Zhang Peng
- Zhang Qian
- Zhang Yu
- Publication venue
- Publication date
- 01/01/2023
- Field of study
: Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs)1,2, conferring a predisposition to life-threatening COVID-19 pneumonia3. Here we report that patients with autosomal recessive NIK or RELB deficiency, or a specific type of autosomal-dominant NF-κB2 deficiency, also have neutralizing autoantibodies against type I IFNs and are at higher risk of getting life-threatening COVID-19 pneumonia. In patients with autosomal-dominant NF-κB2 deficiency, these autoantibodies are found only in individuals who are heterozygous for variants associated with both transcription (p52 activity) loss of function (LOF) due to impaired p100 processing to generate p52, and regulatory (IκBδ activity) gain of function (GOF) due to the accumulation of unprocessed p100, therefore increasing the inhibitory activity of IκBδ (hereafter, p52LOF/IκBδGOF). By contrast, neutralizing autoantibodies against type I IFNs are not found in individuals who are heterozygous for NFKB2 variants causing haploinsufficiency of p100 and p52 (hereafter, p52LOF/IκBδLOF) or gain-of-function of p52 (hereafter, p52GOF/IκBδLOF). In contrast to patients with APS-1, patients with disorders of NIK, RELB or NF-κB2 have very few tissue-specific autoantibodies. However, their thymuses have an abnormal structure, with few AIRE-expressing medullary thymic epithelial cells. Human inborn errors of the alternative NF-κB pathway impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases
Author Correction: The landscape of viral associations in human cancers
- Author
- Aaltonen Lauri A.
- Abascal Federico
- Abeshouse Adam
- Aburatani Hiroyuki
- Adams David J.
- Agrawal Nishant
- Ahn Keun Soo
- Ahn Sung-Min
- Aikata Hiroshi
- Akbani Rehan
- Akdemir Kadir C.
- Al-Ahmadie Hikmat
- Al-Sedairy Sultan T.
- Al-Shahrour Fatima
- Alawi Malik
- Alawi Malik
- Alawi Malik
- Albert Monique
- Aldape Kenneth
- Alexandrov Ludmil B.
- Ally Adrian
- Alsop Kathryn
- Alvarez Eva G.
- Amary Fernanda
- Amin Samirkumar B.
- Aminou Brice
- Ammerpohl Ole
- Anderson Matthew J.
- Ang Yeng
- Antonello Davide
- Anur Pavana
- Aparicio Samuel
- Appelbaum Elizabeth L.
- Arai Yasuhito
- Aretz Axel
- Arihiro Koji
- Ariizumi Shun-ichi
- Armenia Joshua
- Arnau Gisela Mir
- Arnould Laurent
- Asa Sylvia
- Assenov Yassen
- Atwal Gurnit
- Aukema Sietse
- Auman J. Todd
- Aure Miriam R. R.
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- Villasante Izar
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- von Kalle Christof
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- Waddell Nicola
- Wadelius Claes
- Wadi Lina
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- Wang Jiayin
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- Wu Chin-Lee
- Wu Dai-Ying
- Wu Guanming
- Wu Jianmin
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- Xi Liu
- Xia Tian
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- Xiao Xiao
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- Xu Yanxun
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- Yakneen Sergei
- Yamaguchi Rui
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- Yamamoto Masakazu
- Yamamoto Shogo
- Yamaue Hiroki
- Yang Fan
- Yang Huanming
- Yang Jean Y.
- Yang Liming
- Yang Lixing
- Yang Shanlin
- Yang Tsun-Po
- Yang Yang
- Yao Xiaotong
- Yaspo Marie-Laure
- Yates Lucy
- Yau Christina
- Ye Chen
- Ye Kai
- Yellapantula Venkata D.
- Yoon Christopher J.
- Yoon Sung-Soo
- Yousif Fouad
- Yu Jun
- Yu Kaixian
- Yu Willie
- Yu Yingyan
- Yuan Ke
- Yuan Yuan
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- Yugawa Takashi
- Yung Christina K.
- Zaikova Olga
- Zamora Jorge
- Zapatka Marc
- Zapatka Marc
- Zapatka Marc
- Zenklusen Jean C.
- Zenz Thorsten
- Zeps Nikolajs
- Zhang Cheng-Zhong
- Zhang Fan
- Zhang Hailei
- Zhang Hongwei
- Zhang Hongxin
- Zhang Jiashan
- Zhang Jing
- Zhang Junjun
- Zhang Xiuqing
- Zhang Xuanping
- Zhang Yan
- Zhang Zemin
- Zhao Zhongming
- Zheng Liangtao
- Zheng Xiuqing
- Zhou Wanding
- Zhou Yong
- Zhu Bin
- Zhu Hongtu
- Zhu Jingchun
- Zhu Shida
- Zou Lihua
- Zou Xueqing
- Publication venue
- Publication date
- 01/01/2023
- Field of study
author correctio
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
- Author
- Aaltonen Lauri A.
- Abascal Federico
- Abeshouse Adam
- Aburatani Hiroyuki
- Adams David J.
- Agrawal Nishant
- Ahn Keun Soo
- Ahn Sung-Min
- Aikata Hiroshi
- Akbani Rehan
- Akdemir Kadir C.
- Akdemir Kadir C.
- Al-Ahmadie Hikmat
- Al-Sedairy Sultan T.
- Al-Shahrour Fatima
- Alawi Malik
- Albert Monique
- Aldape Kenneth
- Alexandrov Ludmil B.
- Ally Adrian
- Alsop Kathryn
- Alvarez Eva G.
- Alvarez Eva G.
- Amary Fernanda
- Amin Samirkumar B.
- Aminou Brice
- Ammerpohl Ole
- Anderson Matthew J.
- Ang Yeng
- Antonello Davide
- Anur Pavana
- Aparicio Samuel
- Appelbaum Elizabeth L.
- Arai Yasuhito
- Aretz Axel
- Arihiro Koji
- Ariizumi Shun-ichi
- Armenia Joshua
- Arnau Gisela Mir
- Arnould Laurent
- Asa Sylvia
- Assenov Yassen
- Atwal Gurnit
- Aukema Sietse
- Auman J. Todd
- Aure Miriam R. R.
- Awadalla Philip
- Aymerich Marta
- Bader Gary D.
- Baez-Ortega Adrian
- Baez-Ortega Adrian
- Bailey Matthew H.
- Bailey Peter J.
- Balasundaram Miruna
- Balu Saianand
- Bandopadhayay Pratiti
- Banks Rosamonde E.
- Barbi Stefano
- Barbour Andrew P.
- Barenboim Jonathan
- Barnholtz-Sloan Jill
- Barr Hugh
- Barrera Elisabet
- Bartlett John
- Bartolome Javier
- Bassi Claudio
- Bathe Oliver F.
- Baumhoer Daniel
- Bavi Prashant
- Baylin Stephen B.
- Bazant Wojciech
- Beardsmore Duncan
- Beck Timothy A.
- Behjati Sam
- Behren Andreas
- Bell Cindy
- Beltran Sergi
- Benz Christopher
- Berchuck Andrew
- Bergmann Anke K.
- Bergstrom Erik N.
- Berman Benjamin P.
- Berney Daniel M.
- Bernhart Stephan H.
- Beroukhim Rameen
- Beroukhim Rameen
- Berrios Mario
- Bersani Samantha
- Bertl Johanna
- Betancourt Miguel
- Bhandari Vinayak
- Bhosle Shriram G.
- Biankin Andrew V.
- Bieg Matthias
- Bigner Darell
- Binder Hans
- Birney Ewan
- Birrer Michael
- Biswas Nidhan K.
- Bjerkehagen Bodil
- Bodenheimer Tom
- Boice Lori
- Bonizzato Giada
- Boot Arnoud
- Bootwalla Moiz S.
- Borg Ake
- Borkhardt Arndt
- Boroevich Keith A.
- Borozan Ivan
- Borst Christoph
- Bosenberg Marcus
- Bosio Mattia
- Boultwood Jacqueline
- Bourque Guillaume
- Boutros Paul C.
- Boutros Paul C.
- Bova G. Steven
- Bowen David T.
- Bowlby Reanne
- Bowtell David D. L.
- Bowtell David D. L.
- Boyault Sandrine
- Boyce Rich
- Boyd Jeffrey
- Brazma Alvis
- Brennan Paul
- Brewer Daniel S.
- Brinkman Arie B.
- Bristow Robert G.
- Broaddus Russell R.
- Brock Jane E.
- Brock Malcolm
- Broeks Annegien
- Brooks Angela N.
- Brooks Denise
- Brors Benedikt
- Brors Benedikt
- Brunak Søren
- Bruxner Timothy J. C.
- Bruzos Alicia L.
- Buchanan Alex
- Buchhalter Ivo
- Buchholz Christiane
- Bullman Susan
- Burke Hazel
- Burkhardt Birgit
- Burns Kathleen H.
- Burns Kathleen H.
- Busanovich John
- Bustamante Carlos D.
- Butler Adam P.
- Butte Atul J.
- Byrne Niall J.
- Børresen-Dale Anne-Lise
- Caesar-Johnson Samantha J.
- Cafferkey Andy
- Cahill Declan
- Calabrese Claudia
- Caldas Carlos
- Calvo Fabien
- Camacho Niedzica
- Campbell Peter J.
- Campbell Peter J.
- Campo Elias
- Cantù Cinzia
- Cao Shaolong
- Carey Thomas E.
- Carlevaro-Fita Joana
- Carlsen Rebecca
- Cataldo Ivana
- Cazzola Mario
- Cebon Jonathan
- Cerfolio Robert
- Chadwick Dianne E.
- Chakravarty Dimple
- Chalmers Don
- Chan Calvin Wing Yiu
- Chan Kin
- Chan Kin
- Chan-Seng-Yue Michelle
- Chandan Vishal S.
- Chang David K.
- Chanock Stephen J.
- Chantrill Lorraine A.
- Chateigner Aurélien
- Chatterjee Nilanjan
- Chayama Kazuaki
- Chen Hsiao-Wei
- Chen Jieming
- Chen Ken
- Chen Ken
- Chen Yiwen
- Chen Zhaohong
- Cherniack Andrew D.
- Chien Jeremy
- Chiew Yoke-Eng
- Chin Suet-Feung
- Cho Juok
- Cho Sunghoon
- Choi Jung Kyoon
- Choi Wan
- Chomienne Christine
- Chong Zechen
- Choo Su Pin
- Chou Angela
- Christ Angelika N.
- Christie Elizabeth L.
- Chuah Eric
- Cibulskis Carrie
- Cibulskis Kristian
- Cingarlini Sara
- Clapham Peter
- Claviez Alexander
- Cleary Sean
- Cloonan Nicole
- Cmero Marek
- Collins Colin C.
- Connor Ashton A.
- Cooke Susanna L.
- Cooper Colin S.
- Cope Leslie
- Corbo Vincenzo
- Cordes Matthew G.
- Cordner Stephen M.
- Cortés-Ciriano Isidro
- Cortés-Ciriano Isidro
- Cortés-Ciriano Isidro
- Covington Kyle
- Cowin Prue A.
- Craft Brian
- Craft David
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- Cun Yupeng
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- Cutcutache Ioana
- Czajka Karolina
- Czerniak Bogdan
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- Danilova Ludmila
- Davi Maria Vittoria
- Davidson Natalie R.
- Davies Helen
- Davis Ian J.
- Davis-Dusenbery Brandi N.
- Dawson Kevin J.
- De Bono Johann S.
- De La Vega Francisco M.
- De Paoli-Iseppi Ricardo
- deFazio Anna
- Defreitas Timothy
- Delaneau Olivier
- Demchok John A.
- Demeulemeester Jonas
- Demidov German M.
- Demircioğlu Deniz
- Dennis Nening M.
- Denroche Robert E.
- Dentro Stefan C.
- Desai Nikita
- Deshpande Vikram
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- Desmedt Christine
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- Dhalla Noreen
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- Dhir Rajiv
- Diamanti Klev
- DiBiase Anthony
- Ding Li
- Ding Shuai
- Dinh Huy Q.
- Dirix Luc
- Doddapaneni HarshaVardhan
- Donmez Nilgun
- Dow Michelle T.
- Drapkin Ronny
- Drechsel Oliver
- Drews Ruben M.
- Dudderidge Tim
- Dueso-Barroso Ana
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- Duthie Fraser R.
- Dutton-Regester Ken
- Eagles Jenna
- Easton Douglas F.
- Edmonds Stuart
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- Eeles Rosalind A.
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- Eils Juergen
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- Eldridge Matthew
- Ellrott Kyle
- Erkek Serap
- Escaramis Georgia
- Espiritu Shadrielle M. G.
- Estivill Xavier
- Estivill Xavier
- Etemadmoghadam Dariush
- Etemadmoghadam Dariush
- Eyfjord Jorunn E.
- Faltas Bishoy M.
- Fan Daiming
- Fan Yu
- Faquin William C.
- Farcas Claudiu
- Fassan Matteo
- Fatima Aquila
- Favero Francesco
- Fayzullaev Nodirjon
- Felau Ina
- Fereday Sian
- Ferguson Martin L.
- Ferretti Vincent
- Feuerbach Lars
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- Field Matthew A.
- Fink J. Lynn
- Fink J. Lynn
- Finocchiaro Gaetano
- Fisher Cyril
- Fittall Matthew W.
- Fitzgerald Anna
- Fitzgerald Rebecca C.
- Flanagan Adrienne M.
- Fleshner Neil E.
- Flicek Paul
- Foekens John A.
- Fong Kwun M.
- Fonseca Nuno A.
- Foster Christopher S.
- Fox Natalie S.
- Fraser Michael
- Frazer Scott
- Frenkel-Morgenstern Milana
- Frenkel-Morgenstern Milana
- Friedman William
- Frigola Joan
- Fronick Catrina C.
- Fujimoto Akihiro
- Fujita Masashi
- Fukayama Masashi
- Fulton Lucinda A.
- Fulton Robert S.
- Furuta Mayuko
- Futreal P. Andrew
- Füllgrabe Anja
- Gabriel Stacey B.
- Gallinger Steven
- Gambacorti-Passerini Carlo
- Gao Jianjiong
- Gao Shengjie
- Garraway Levi
- Garred Øystein
- Garrison Erik
- Garsed Dale W.
- Garsed Dale W.
- Gehlenborg Nils
- Gelpi Josep L. L.
- George Joshy
- Gerhard Daniela S.
- Gerhauser Clarissa
- Gershenwald Jeffrey E.
- Gerstein Mark
- Gerstein Mark
- Gerstung Moritz
- Getz Gad
- Ghori Mohammed
- Ghossein Ronald
- Giama Nasra H.
- Gibbs Richard A.
- Gibson Bob
- Gill Anthony J.
- Gill Pelvender
- Giri Dilip D.
- Glodzik Dominik
- Gnanapragasam Vincent J.
- Goebler Maria Elisabeth
- Goldman Mary J.
- Gomez Carmen
- Gonzalez Santiago
- Gonzalez-Perez Abel
- Gordenin Dmitry
- Gordenin Dmitry A.
- Gordenin Dmitry A.
- Gossage James
- Gotoh Kunihito
- Govindan Ramaswamy
- Göke Jonathan
- Grabau Dorthe
- Graham Janet S.
- Grant Robert C.
- Green Anthony R.
- Green Eric
- Greger Liliana
- Grehan Nicola
- Grimaldi Sonia
- Grimmond Sean M.
- Grossman Robert L.
- Grundhoff Adam
- Gundem Gunes
- Guo Qianyun
- Gupta Manaswi
- Gupta Shailja
- Gut Ivo G.
- Gut Marta
- Ha Gavin
- Haake Andrea
- Haan David
- Haan David
- Haas Siegfried
- Haase Kerstin
- Haber James E.
- Haber James E.
- Habermann Nina
- Hach Faraz
- Haider Syed
- Hama Natsuko
- Hamdy Freddie C.
- Hamilton Anne
- Hamilton Mark P.
- Han Leng
- Hanna George B.
- Hansmann Martin
- Haradhvala Nicholas J.
- Harismendy Olivier
- Harliwong Ivon
- Harmanci Arif O.
- Harrington Eoghan
- Hasegawa Takanori
- Haussler David
- Hawkins Steve
- Hayami Shinya
- Hayashi Shuto
- Hayes D. Neil
- Hayes Stephen J.
- Hayward Nicholas K.
- Hazell Steven
- He Yao
- Heath Allison P.
- Heath Simon C.
- Hedley David
- Hegde Apurva M.
- Heiman David I.
- Heinold Michael C.
- Heins Zachary
- Heisler Lawrence E.
- Hellstrom-Lindberg Eva
- Helmy Mohamed
- Heo Seong Gu
- Hepperla Austin J.
- Heredia-Genestar José María
- Herrmann Carl
- Hersey Peter
- Hess Julian M.
- Hess Julian M.
- Hilmarsdottir Holmfridur
- Hinton Jonathan
- Hirano Satoshi
- Hiraoka Nobuyoshi
- Hoadley Katherine A.
- Hobolth Asger
- Hodzic Ermin
- Hoell Jessica I.
- Hoffmann Steve
- Hofmann Oliver
- Holbrook Andrea
- Holik Aliaksei Z.
- Hollingsworth Michael A.
- Holmes Oliver
- Holt Robert A.
- Hong Chen
- Hong Eun Pyo
- Hong Jongwhi H.
- Hooijer Gerrit K.
- Hornshøj Henrik
- Hosoda Fumie
- Hou Yong
- Hovestadt Volker
- Howat William
- Hoyle Alan P.
- Hruban Ralph H.
- Hu Jianhong
- Hu Taobo
- Hua Xing
- Huang Kuan-lin
- Huang Mei
- Huang Mi Ni
- Huang Vincent
- Huang Yi
- Huber Wolfgang
- Hudson Thomas J.
- Hummel Michael
- Hung Jillian A.
- Huntsman David
- Hupp Ted R.
- Huse Jason
- Huska Matthew R.
- Hutter Barbara
- Hutter Barbara
- Hutter Carolyn M.
- Hübschmann Daniel
- Iacobuzio-Donahue Christine A.
- Imbusch Charles David
- Imielinski Marcin
- Imielinski Marcin
- Imoto Seiya
- Isaacs William B.
- Isaev Keren
- Ishikawa Shumpei
- Iskar Murat
- Islam S. M. Ashiqul
- Ittmann Michael
- Ivkovic Sinisa
- Izarzugaza Jose M. G.
- Jacquemier Jocelyne
- Jain Dhawal
- Jakrot Valerie
- Jamieson Nigel B.
- Jan Komorowski null
- Jang Gun Ho
- Jang Se Jin
- Jayaseelan Joy C.
- Jayasinghe Reyka
- Jäger Natalie
- Jefferys Stuart R.
- Jegalian Karine
- Jennings Jennifer L.
- Jeon Seung-Hyup
- Jerman Lara
- Ji Yuan
- Jiao Wei
- Johansson Peter A.
- Johns Amber L.
- Johns Jeremy
- Johnson Rory
- Johnson Todd A.
- Jolly Clemency
- Joly Yann
- Jonasson Jon G.
- Jones Corbin D.
- Jones David R.
- Jones David T. W.
- Jones David T. W.
- Jones Nic
- Jones Steven J. M.
- Jonkers Jos
- Ju Young Seok
- Ju Young Seok
- Juhl Hartmut
- Jung Jongsun
- Jung Youngsook L.
- Juul Malene
- Juul Randi Istrup
- Juul Sissel
- Kabbe Rolf
- Kahles Andre
- Kahraman Abdullah
- Kaiser Vera B.
- Kakavand Hojabr
- Kalimuthu Sangeetha
- Kang Koo Jeong
- Karaszi Katalin
- Karlan Beth
- Karlić Rosa
- Karsch Dennis
- Kasaian Katayoon
- Kassahn Karin S.
- Katai Hitoshi
- Kato Mamoru
- Katoh Hiroto
- Kawakami Yoshiiku
- Kay Jonathan D.
- Kazakoff Stephen H.
- Kazanov Marat D.
- Kazanov Marat D.
- Keays Maria
- Kebebew Electron
- Kefford Richard F.
- Kellis Manolis
- Kench James G.
- Kennedy Catherine J.
- Kerssemakers Jules N. A.
- Khoo David
- Khoo Vincent
- Khuntikeo Narong
- Khurana Ekta
- Kilpinen Helena
- Kim Hark Kyun
- Kim Hyung-Lae
- Kim Hyung-Yong
- Kim Hyunghwan
- Kim Jaegil
- Kim Jihoon
- Kim Jong K.
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- King Tari A.
- Klapper Wolfram
- Kleinheinz Kortine
- Klimczak Leszek J.
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- Kneba Michael
- Knoppers Bartha M.
- Koh Youngil
- Koh Youngil
- Komura Daisuke
- Komura Mitsuhiro
- Kong Gu
- Kool Marcel
- Korbel Jan O.
- Korbel Jan O.
- Korchina Viktoriya
- Korshunov Andrey
- Koscher Michael
- Koster Roelof
- Kote-Jarai Zsofia
- Koures Antonios
- Kovacevic Milena
- Kremeyer Barbara
- Kretzmer Helene
- Kreuz Markus
- Krishnamurthy Savitri
- Kube Dieter
- Kumar Kiran
- Kumar Kiran
- Kumar Pardeep
- Kumar Sushant
- Kumar Yogesh
- Kundra Ritika
- Kübler Kirsten
- Küppers Ralf
- Lagergren Jesper
- Lai Phillip H.
- Laird Peter W.
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- Lalansingh Christopher M.
- Lalonde Emilie
- Lamaze Fabien C.
- Lambert Adam
- Lander Eric
- Landgraf Pablo
- Landoni Luca
- Langerød Anita
- Lanzós Andrés
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- Le Xuan
- Lee Darlene
- Lee Donghoon
- Lee Eunjung Alice
- Lee Eunjung Alice
- Lee Hee Jin
- Lee Jake June-Koo
- Lee Jake June-Koo
- Lee Jake June-Koo
- Lee Jeong-Yeon
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- Lee Ming Ta Michael
- Lee-Six Henry
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- Lehrach Hans
- Lenze Dido
- Leonard Conrad R.
- Leongamornlert Daniel A.
- Leshchiner Ignaty
- Letourneau Louis
- Letunic Ivica
- Levine Douglas A.
- Lewis Lora
- Ley Tim
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- Li Constance H.
- Li Haiyan Irene
- Li Jun
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- Li Shantao
- Li Siliang
- Li Xiaobo
- Li Xiaotong
- Li Xinyue
- Li Yilong
- Li Yilong
- Liang Han
- Liang Sheng-Ben
- Lichter Peter
- Lin Pei
- Lin Ziao
- Linehan W. M.
- Lingjærde Ole Christian
- Liu Dongbing
- Liu Eric Minwei
- Liu Fei-Fei Fei
- Liu Fenglin
- Liu Jia
- Liu Xingmin
- Livingstone Julie
- Livitz Dimitri
- Livni Naomi
- Lochovsky Lucas
- Loeffler Markus
- Long Georgina V.
- Lopez-Guillermo Armando
- Lou Shaoke
- Louis David N.
- Lovat Laurence B.
- López Cristina
- López-Otín Carlos
- Lu Yiling
- Lu Yong-Jie
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- Lungu Ilinca
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- Lype Lisa
- Ma Eric Z.
- Ma Yussanne
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- MacRae Shona
- Madsen Tobias
- Maejima Kazuhiro
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- Maitra Arindam
- Majumder Partha P.
- Malcovati Luca
- Malikic Salem
- Malleo Giuseppe
- Mann Graham J.
- Mantovani-Löffler Luisa
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- Zhang Hongwei
- Zhang Hongxin
- Zhang Jiashan
- Zhang Jing
- Zhang Junjun
- Zhang Xiuqing
- Zhang Xuanping
- Zhang Yan
- Zhang Zemin
- Zhao Zhongming
- Zheng Liangtao
- Zheng Xiuqing
- Zhou Wanding
- Zhou Yong
- Zhu Bin
- Zhu Hongtu
- Zhu Jingchun
- Zhu Shida
- Zou Lihua
- Zou Xueqing
- Publication venue
- Publication date
- 01/01/2020
- Field of study
Analysis of whole-genome sequencing data across 2,658 tumors spanning 38 cancer types shows that chromothripsis is pervasive, with a frequency of more than 50% in several cancer types, contributing to oncogene amplification, gene inactivation and cancer genome evolution.Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer types have suggested that chromothripsis may be more common than initially inferred from low-resolution copy-number data. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we analyze patterns of chromothripsis across 2,658 tumors from 38 cancer types using whole-genome sequencing data. We find that chromothripsis events are pervasive across cancers, with a frequency of more than 50% in several cancer types. Whereas canonical chromothripsis profiles display oscillations between two copy-number states, a considerable fraction of events involve multiple chromosomes and additional structural alterations. In addition to non-homologous end joining, we detect signatures of replication-associated processes and templated insertions. Chromothripsis contributes to oncogene amplification and to inactivation of genes such as mismatch-repair-related genes. These findings show that chromothripsis is a major process that drives genome evolution in human cancer
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing (vol 52, pg 331, 2020)
- Author
- Aaltonen Lauri A.
- Abascal Federico
- Abeshouse Adam
- Aburatani Hiroyuki
- Adams David J.
- Agrawal Nishant
- Ahn Keun Soo
- Ahn Sung-Min
- Aikata Hiroshi
- Akbani Rehan
- Akdemir Kadir C.
- Akdemir Kadir C.
- Al-Ahmadie Hikmat
- Al-Sedairy Sultan T.
- Al-Shahrour Fatima
- Alawi Malik
- Albert Monique
- Aldape Kenneth
- Alexandrov Ludmil B.
- Ally Adrian
- Alsop Kathryn
- Alvarez Eva G.
- Alvarez Eva G.
- Amary Fernanda
- Amin Samirkumar B.
- Aminou Brice
- Ammerpohl Ole
- Anderson Matthew J.
- Ang Yeng
- Antonello Davide
- Anur Pavana
- Aparicio Samuel
- Appelbaum Elizabeth L.
- Arai Yasuhito
- Aretz Axel
- Arihiro Koji
- Ariizumi Shun-ichi
- Armenia Joshua
- Arnau Gisela Mir
- Arnould Laurent
- Asa Sylvia
- Assenov Yassen
- Atwal Gurnit
- Aukema Sietse
- Auman J. Todd
- Aure Miriam R. R.
- Awadalla Philip
- Aymerich Marta
- Bader Gary D.
- Baez-Ortega Adrian
- Baez-Ortega Adrian
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- Bailey Peter J.
- Balasundaram Miruna
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- Liu Dongbing
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- Yousif Fouad
- Yu Jun
- Yu Kaixian
- Yu Willie
- Yu Yingyan
- Yuan Ke
- Yuan Yuan
- Yuen Denis
- Yugawa Takashi
- Yung Christina K.
- Zaikova Olga
- Zamora Jorge
- Zamora Jorge
- Zapatka Marc
- Zenklusen Jean C.
- Zenz Thorsten
- Zeps Nikolajs
- Zhang Cheng-Zhong
- Zhang Cheng-Zhong
- Zhang Fan
- Zhang Hailei
- Zhang Hongwei
- Zhang Hongxin
- Zhang Jiashan
- Zhang Jing
- Zhang Junjun
- Zhang Xiuqing
- Zhang Xuanping
- Zhang Yan
- Zhang Zemin
- Zhao Zhongming
- Zheng Liangtao
- Zheng Xiuqing
- Zhou Wanding
- Zhou Yong
- Zhu Bin
- Zhu Hongtu
- Zhu Jingchun
- Zhu Shida
- Zou Lihua
- Zou Xueqing
- Publication venue
- NATURE PORTFOLIO
- Publication date
- 01/01/2023
- Field of study
author correctio