Search

Your search keyword '"Casanova Jean-Laurent"' showing total 4,043 results
Start Over Author "Casanova Jean-Laurent"
4,043 results on '"Casanova Jean-Laurent"'

351. Human TMEFF1 is a restriction factor for herpes simplex virus in the brain

Author

Chan, Yi-Hao, Liu, Zhiyong, Bastard, Paul, Khobrekar, Noopur, Hutchison, Kennen M., Yamazaki, Yasuhiro, Fan, Qing, Matuozzo, Daniela, Harschnitz, Oliver, Kerrouche, Nacim, Nakajima, Koji, Amin, Param, Yatim, Ahmad, Rinchai, Darawan, Chen, Jie, Zhang, Peng, Ciceri, Gabriele, Chen, Jia, Dobbs, Kerry, Belkaya, Serkan, Lee, Danyel, Gervais, Adrian, Aydın, Kürşad, Kartal, Ayse, Hasek, Mary L., Zhao, Shuxiang, Reino, Eduardo Garcia, Lee, Yoon Seung, Seeleuthner, Yoann, Chaldebas, Matthieu, Bailey, Rasheed, Vanhulle, Catherine, Lorenzo, Lazaro, Boucherit, Soraya, Rozenberg, Flore, Marr, Nico, Mogensen, Trine H., Aubart, Mélodie, Cobat, Aurélie, Dulac, Olivier, Emiroglu, Melike, Paludan, Søren R., Abel, Laurent, Notarangelo, Luigi, Longnecker, Richard, Smith, Greg, Studer, Lorenz, Casanova, Jean-Laurent, and Zhang, Shen-Ying

Abstract

Most cases of herpes simplex virus 1 (HSV-1) encephalitis (HSE) remain unexplained1,2. Here, we report on two unrelated people who had HSE as children and are homozygous for rare deleterious variants of TMEFF1, which encodes a cell membrane protein that is preferentially expressed by brain cortical neurons. TMEFF1 interacts with the cell-surface HSV-1 receptor NECTIN-1, impairing HSV-1 glycoprotein D- and NECTIN-1-mediated fusion of the virus and the cell membrane, blocking viral entry. Genetic TMEFF1 deficiency allows HSV-1 to rapidly enter cortical neurons that are either patient specific or derived from CRISPR–Cas9-engineered human pluripotent stem cells, thereby enhancing HSV-1 translocation to the nucleus and subsequent replication. This cellular phenotype can be rescued by pretreatment with type I interferon (IFN) or the expression of exogenous wild-type TMEFF1. Moreover, ectopic expression of full-length TMEFF1 or its amino-terminal extracellular domain, but not its carboxy-terminal intracellular domain, impairs HSV-1 entry into NECTIN-1-expressing cells other than neurons, increasing their resistance to HSV-1 infection. Human TMEFF1 is therefore a host restriction factor for HSV-1 entry into cortical neurons. Its constitutively high abundance in cortical neurons protects these cells from HSV-1 infection, whereas inherited TMEFF1 deficiency renders them susceptible to this virus and can therefore underlie HSE.

Published
2024
Full Text
View/download PDF

352. TMEFF1 is a neuron-specific restriction factor for herpes simplex virus

Author

Dai, Yao, Idorn, Manja, Serrero, Manutea C., Pan, Xiaoyong, Thomsen, Emil A., Narita, Ryo, Maimaitili, Muyesier, Qian, Xiaoqing, Iversen, Marie B., Reinert, Line S., Flygaard, Rasmus K., Chen, Muwan, Ding, Xiangning, Zhang, Bao-cun, Carter-Timofte, Madalina E., Lu, Qing, Jiang, Zhuofan, Zhong, Yiye, Zhang, Shuhui, Da, Lintai, Zhu, Jinwei, Denham, Mark, Nissen, Poul, Mogensen, Trine H., Mikkelsen, Jacob Giehm, Zhang, Shen-Ying, Casanova, Jean-Laurent, Cai, Yujia, and Paludan, Søren R.

Abstract

The brain is highly sensitive to damage caused by infection and inflammation1,2. Herpes simplex virus 1 (HSV-1) is a neurotropic virus and the cause of herpes simplex encephalitis3. It is unknown whether neuron-specific antiviral factors control virus replication to prevent infection and excessive inflammatory responses, hence protecting the brain. Here we identify TMEFF1 as an HSV-1 restriction factor using genome-wide CRISPR screening. TMEFF1 is expressed specifically in neurons of the central nervous system and is not regulated by type I interferon, the best-known innate antiviral system controlling virus infections. Depletion of TMEFF1 in stem-cell-derived human neurons led to elevated viral replication and neuronal death following HSV-1 infection. TMEFF1 blocked the HSV-1 replication cycle at the level of viral entry through interactions with nectin-1 and non-muscle myosin heavy chains IIA and IIB, which are core proteins in virus–cell binding and virus–cell fusion, respectively4–6. Notably, Tmeff1−/−mice exhibited increased susceptibility to HSV-1 infection in the brain but not in the periphery. Within the brain, elevated viral load was observed specifically in neurons. Our study identifies TMEFF1 as a neuron-specific restriction factor essential for prevention of HSV-1 replication in the central nervous system.

Published
2024
Full Text
View/download PDF

353. More rapid blood interferon a2 decline in fatal versus surviving COVID-19 patients C.

Author

Joly, Candie, Desjardins, Delphine, Porcher, Raphael, Péré, Hélène, Bruneau, Thomas, Zhang, Qian, Bastard, Paul, Cobat, Aurélie, Resmini, Léa, Lenoir, Olivia, Savale, Laurent, Lécuroux, Camille, Verstuyft, Céline, Roque-Afonso, Anne-Marie, Veyer, David, Baron, Gabriel, Resche-Rigon, Matthieu, Ravaud, Philippe, Casanova, Jean-Laurent, and Grand, Roger Le

Subjects
COVID-19, TYPE I interferons, INTERFERONS, SINGLE molecules, CIRCULATING tumor DNA, VIRAL load, OXYGEN consumption
Abstract

Background: The clinical outcome of COVID-19 pneumonia is highly variable. Few biological predictive factors have been identified. Genetic and immunological studies suggest that type 1 interferons (IFN) are essential to control SARS-CoV-2 infection. Objective: To study the link between change in blood IFN-a2 level and plasma SARS-Cov2 viral load over time and subsequent death in patients with severe and critical COVID-19. Methods: One hundred and forty patients from the CORIMUNO-19 cohort hospitalized with severe or critical COVID-19 pneumonia, all requiring oxygen or ventilation, were prospectively studied. Blood IFN-a2 was evaluated using the Single Molecule Array technology. Anti-IFN-a2 auto-Abs were determined with a reporter luciferase activity. Plasma SARS-Cov2 viral load was measured using droplet digital PCR targeting the Nucleocapsid gene of the SARS-CoV-2 positive-strand RNA genome. Results: Although the percentage of plasmacytoid dendritic cells was low, the blood IFN-a2 level was higher in patients than in healthy controls and was correlated to SARS-CoV-2 plasma viral load at entry. Neutralizing anti-IFN-a2 auto-antibodies were detected in 5% of patients, associated with a lower baseline level of blood IFN-a2. A longitudinal analysis found that a more rapid decline of blood IFN-a2 was observed in fatal versus surviving patients: mortality HR=3.15 (95% CI 1.14–8.66) in rapid versus slow decliners. Likewise, a high level of plasma SARS-CoV-2 RNA was associated with death risk in patients with severe COVID-19. Conclusion: These findings could suggest an interest in evaluating type 1 IFN treatment in patients with severe COVID-19 and type 1 IFN decline, eventually combined with anti-inflammatory drugs. Clinical trial registration: https://clinicaltrials.gov, identifiers NCT04324073, NCT04331808, NCT04341584. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

354. Severe acute herpes virus type 2 primo-infection and its association with anti-type 1 interferon autoantibodies.

Author

Martinot, Martin, Gravier, Simon, Mohseni-Zadeh, Mahsa, Fabien, Nicole, Casanova, Jean-Laurent, Puel, Anne, and Goncalves, David

Subjects
HERPES simplex virus, INTERFERONS, VIRUS diseases, HEMOPHAGOCYTIC lymphohistiocytosis, NATURAL immunity, TYPE I interferons, AUTOANTIBODIES
Abstract

Herpes simplex virus type 2 (HSV-2) is a common cause of infection, which is usually self-limited and asymptomatic. A 71-year-old patient with HSV-2 primo-infection developed acute hepatitis and secondary hemophagocytic lymphohistiocytosis. The patient had high levels of autoantibodies against type I interferon (IFN) (> 1000 ng/mL), neutralizing high concentration (10 ng/mL) of both IFN-α and IFN-ω but not IFN-β. Anti-IFN-I auto-antibodies are rarely observed in healthy individuals; however, their prevalence increases in individuals over 70 years of age and have been identified as a cause of some severe viral diseases, including critical COVID-19. Considering the function of IFN-I in innate immunity, the pathological role of these autoantibodies in severe viral diseases following primo-infections in elderly patient appears crucial. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

355. Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Author

Peng Zhang, Chaldebas, Matthieu, Ogishi, Masato, Al Qureshah, Fahd, Ponsin, Khoren, Yi Feng, Rinchai, Darawan, Milisavljevic, Baptiste, Ji Eun Han, Moncada-Vélez, Marcela, Keles, Sevgi, Schröder, Bernd, Stenson, Peter D., Cooper, David N., Cobat, Aurélie, Boisson, Bertrand, Qian Zhang, Boisson-Dupuis, Stéphanie, Abel, Laurent, and Casanova, Jean-Laurent

Subjects
GENETIC variation, MYCOBACTERIAL diseases, DATABASES, HUMAN genetics, GENETIC mutation
Abstract

Human genetic variants that introduce an AG into the intronic region between the branchpoint (BP) and the canonical splice acceptor site (ACC) of protein-coding genes can disrupt pre-mRNA splicing. Using our genome-wide BP database, we delineated the BP-ACC segments of all human introns and found extreme depletion of AG/YAG in the [BP+8, ACC-4] high-risk region. We developed AGAIN as a genome-wide computational approach to systematically and precisely pinpoint intronic AG-gain variants within the BP-ACC regions. AGAIN identified 350 AG-gain variants from the Human Gene Mutation Database, all of which alter splicing and cause disease. Among them, 74% created new acceptor sites, whereas 31% resulted in complete exon skipping. AGAIN also predicts the protein-level products resulting from these two consequences. We performed AGAIN on our exome/genomes database of patients with severe infectious diseases but without known genetic etiology and identified a private homozygous intronic AG-gain variant in the antimycobacterial gene SPPL2A in a patient with mycobacterial disease. AGAIN also predicts a retention of six intronic nucleotides that encode an in-frame stop codon, turning AG-gain into stop-gain. This allele was then confirmed experimentally to lead to loss of function by disrupting splicing. We further showed that AG-gain variants inside the high-risk region led to misspliced products, while those outside the region did not, by two case studies in genes STAT1 and IRF7. We finally evaluated AGAIN on our 14 paired exome-RNAseq samples and found that 82% of AG-gain variants in high-risk regions showed evidence of missplicing. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

356. Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.

Author

Mousavi Khorshidi, Mohadese Sadat, Seeleuthner, Yoann, Chavoshzadeh, Zahra, Behfar, Maryam, Hamidieh, Amir Ali, Alimadadi, Hosein, Sherkat, Roya, Momen, Tooba, Behniafard, Nasrin, Eskandarzadeh, Shabnam, Mansouri, Mahboubeh, Behnam, Mahdiyeh, Mahdavi, Mohadese, Heydarazad Zadeh, Maryam, Shokri, Mehdi, Alizadeh, Fatemeh, Movahedi, Mahshid, Momenilandi, Mana, Keramatipour, Mohammad, and Casanova, Jean-Laurent

Subjects
IRANIANS, HEMATOPOIETIC stem cell transplantation, MAJOR histocompatibility complex, FAMILY counseling, GENETIC counseling, BLOOD coagulation factor XIII
Abstract

Purpose: Major histocompatibility complex class II (MHC-II) deficiency is a rare inborn error of immunity (IEI). Impaired antigen presentation to CD4 + T cells results in combined immunodeficiency (CID). Patients typically present with severe respiratory and gastrointestinal tract infections at early ages. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy. Methods: We describe the clinical, immunologic, and genetic features of eighteen unrelated Iranian patients with MHC-II deficiency. Results: Consanguinity was present in all affected families. The median age at the initial presentation was 5.5 months (range 7 days to 18 years). The main symptoms included failure to thrive, persistent diarrhea, and pneumonia. Autoimmune and neurologic features were also documented in about one-third of the patients, respectively. Thirteen patients carried RFXANK gene mutations, two carried RFX5 gene mutations, and three carried a RFXAP gene mutation. Six patients shared the same RFXANK founder mutation (c.162delG); limited to the Iranian population and dated to approximately 1296 years ago. Four of the patients underwent HSCT; three of them are alive. On the other hand, nine of the fourteen patients who did not undergo HSCT had a poor prognosis and died. Conclusion: MHC-II deficiency is not rare in Iran, with a high rate of consanguinity. It should be considered in the differential diagnosis of CID at any age. With the limited access to HSCT and its variable results in MHC-II deficiency, implementing genetic counseling and family planning for the affected families are mandatory. We are better determined to study the c.162delG RFXANK heterozygous mutation frequency in the Iranian population. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

357. Inborn Errors of Immunity—the Sri Lankan Experience 2010–2022.

Author

Dasanayake, Dhanushka, Bustamante, Jacinta, Boisson–Dupuis, Stéphanie, Karunatilleke, Chandima, Thambyrajah, James, Puel, Anne, Chan, Koon Wing, Doffinger, Rainer, Lau, Yu-Lung, Casanova, Jean-Laurent, Kumararatne, Dinakantha, and de Silva, Rajiva

Subjects
CHRONIC granulomatous disease, SEVERE combined immunodeficiency, IMMUNITY, MEDICAL research, NUCLEOTIDE sequencing, AGAMMAGLOBULINEMIA
Abstract

Purpose: Inborn errors of immunity (IEI) are typically monogenic. Data from the Indian subcontinent are relatively scarce. This paper evaluates IEI diagnosed in Sri Lanka. Methods: Data of patients diagnosed with IEI from 2010 to 2022 at the Department of Immunology, Medical Research Institute, Colombo, Sri Lanka, were retrospectively analyzed. Results: Two hundred and six patients were diagnosed with IEI, with a prevalence of 0.94 per 100,000. The onset of disease was below 12 years in 84.9%, whereas in 10.9%, it was after 18 years. The male: female ratio was 1.78:1. Consanguinity was identified in 26.6%. IEI were found in all but one (bone marrow failure) of the 10 IUIS categories. Predominantly antibody deficiencies were the most common category among the nine identified (30.1%), followed by combined immune deficiencies with syndromic features (21.3%), immunodeficiencies affecting cellular and humoral immunity (19.9%), congenital defects of phagocyte number or function (13.1%), and defects in intrinsic and innate immunity (8.2%). Severe combined immune deficiency (SCID) was the commonest disease (14.6%), followed by chronic granulomatous disease (CGD) (10.6%) and X linked agammaglobulinemia (8.7%). Of the patients with a known outcome (n = 184), 51 died (27.7%). Mortality rates were high in SCID (83.3%), Omenn syndrome (OS) (100%), and CGD (31.8%) patients. Conclusion: IEI in Sri Lanka are diagnosed mainly in childhood. The low diagnosis rates suggest a need for educating clinicians regarding IEI in adulthood. The high mortality rates associated with some IEI indicate the need of transplant services in the country. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

358. Inherited STAT1 Deficiency in a Child with BCG-osis and Severe COVID-19 Pneumonia.

Author

Guèye, Mame Sokhna, Ndiaye-Diop, Mame Téné, Le Voyer, Tom, Soudée, Camille, Ba, Idrissa Demba, Kane, Awa, Dème-Ly, Indou, Badiane-Seye, Joséphine Khady, L'Honneur, Anne-Sophie, Diallo, Abdoul Aziz, Ndiaye, Ousmane, Gadji, Macoura, Zhang, Qian, Mboup, Souleymane, Casanova, Jean-Laurent, Bustamante, Jacinta, and Dièye, Tandakha Ndiaye

Subjects
STAT proteins, SEVERE combined immunodeficiency, COVID-19, PNEUMONIA, EMERGING infectious diseases, COVID-19 pandemic
Abstract

Here, we report a new patient with AR partial STAT1 deficiency, with a history of BCG-osis and COVID-19 pneumonia. To our knowledge, this patient is the first with AR STAT1 deficiency associated with severe COVID-19 pneumonia. AR STAT1 deficiency was predicted to confer susceptibility to COVID-19 pneumonia as reported patients with this IEI developed pneumonia caused by other viruses [[2]] due to unresponsiveness to both type I and III IFNs. AR partial STAT1 deficiency is caused by decreased STAT1 protein expression, resulting in less severe symptoms than in patients with AR complete STAT1 deficiency [[2]]. [Extracted from the article]

Published
2023
Full Text
View/download PDF

361. Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Author

Sharma, Mehul, primary, Leung, Daniel, additional, Momenilandi, Mana, additional, Jones, Lauren C.W., additional, Pacillo, Lucia, additional, James, Alyssa E., additional, Murrell, Jill R., additional, Delafontaine, Selket, additional, Maimaris, Jesmeen, additional, Vaseghi-Shanjani, Maryam, additional, Del Bel, Kate L., additional, Lu, Henry Y., additional, Chua, Gilbert T., additional, Di Cesare, Silvia, additional, Fornes, Oriol, additional, Liu, Zhongyi, additional, Di Matteo, Gigliola, additional, Fu, Maggie P., additional, Amodio, Donato, additional, Tam, Issan Yee San, additional, Chan, Gavin Shueng Wai, additional, Sharma, Ashish A., additional, Dalmann, Joshua, additional, van der Lee, Robin, additional, Blanchard-Rohner, Géraldine, additional, Lin, Susan, additional, Philippot, Quentin, additional, Richmond, Phillip A., additional, Lee, Jessica J., additional, Matthews, Allison, additional, Seear, Michael, additional, Turvey, Alexandra K., additional, Philips, Rachael L., additional, Brown-Whitehorn, Terri F., additional, Gray, Christopher J., additional, Izumi, Kosuke, additional, Treat, James R., additional, Wood, Kathleen H., additional, Lack, Justin, additional, Khleborodova, Asya, additional, Niemela, Julie E., additional, Yang, Xingtian, additional, Liang, Rui, additional, Kui, Lin, additional, Wong, Christina Sze Man, additional, Poon, Grace Wing Kit, additional, Hoischen, Alexander, additional, van der Made, Caspar I., additional, Yang, Jing, additional, Chan, Koon Wing, additional, Rosa Duque, Jaime Sou Da, additional, Lee, Pamela Pui Wah, additional, Ho, Marco Hok Kung, additional, Chung, Brian Hon Yin, additional, Le, Huong Thi Minh, additional, Yang, Wanling, additional, Rohani, Pejman, additional, Fouladvand, Ali, additional, Rokni-Zadeh, Hassan, additional, Changi-Ashtiani, Majid, additional, Miryounesi, Mohammad, additional, Puel, Anne, additional, Shahrooei, Mohammad, additional, Finocchi, Andrea, additional, Rossi, Paolo, additional, Rivalta, Beatrice, additional, Cifaldi, Cristina, additional, Novelli, Antonio, additional, Passarelli, Chiara, additional, Arasi, Stefania, additional, Bullens, Dominique, additional, Sauer, Kate, additional, Claeys, Tania, additional, Biggs, Catherine M., additional, Morris, Emma C., additional, Rosenzweig, Sergio D., additional, O’Shea, John J., additional, Wasserman, Wyeth W., additional, Bedford, H. Melanie, additional, van Karnebeek, Clara D.M., additional, Palma, Paolo, additional, Burns, Siobhan O., additional, Meyts, Isabelle, additional, Casanova, Jean-Laurent, additional, Lyons, Jonathan J., additional, Parvaneh, Nima, additional, Nguyen, Anh Thi Van, additional, Cancrini, Caterina, additional, Heimall, Jennifer, additional, Ahmed, Hanan, additional, McKinnon, Margaret L., additional, Lau, Yu Lung, additional, Béziat, Vivien, additional, and Turvey, Stuart E., additional

Published
2023
Full Text
View/download PDF

362. Whole transcriptome–based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infections

Author

Saeidian, Amir Hossein, primary, Youssefian, Leila, additional, Naji, Mahtab, additional, Mahmoudi, Hamidreza, additional, Barnada, Samantha M., additional, Huang, Charles, additional, Naghipoor, Karim, additional, Hozhabrpour, Amir, additional, Park, Jason S., additional, Manzo Margiotta, Flavia, additional, Vahidnezhad, Fatemeh, additional, Saffarian, Zahra, additional, Kamyab-Hesari, Kambiz, additional, Tolouei, Mohammad, additional, Faraji, Niloofar, additional, Azimi, Seyyede Zeinab, additional, Namdari, Ghazal, additional, Mansouri, Parvin, additional, Casanova, Jean-Laurent, additional, Béziat, Vivien, additional, Jouanguy, Emmanuelle, additional, Uitto, Jouni, additional, and Vahidnezhad, Hassan, additional

Published
2023
Full Text
View/download PDF

363. Anti-GM-CSF Neutralizing Autoantibodies in Colombian Patients with Disseminated Cryptococcosis

Author

Arango-Franco, Carlos A., primary, Migaud, Mélanie, additional, Ramírez-Sánchez, Isabel Cristina, additional, Arango-Bustamante, Karen, additional, Moncada-Vélez, Marcela, additional, Rojas, Julián, additional, Gervais, Adrian, additional, Patiño-Giraldo, Santiago, additional, Perez-Zapata, Lizeth J., additional, Álvarez Álvarez, Jesús A., additional, Orrego, Julio César, additional, Roncancio-Villamil, Gustavo, additional, Boisson-Dupuis, Stéphanie, additional, Jouanguy, Emmanuelle, additional, Abel, Laurent, additional, Casanova, Jean-Laurent, additional, Bustamante, Jacinta, additional, Arias, Andrés A., additional, Franco, José Luis, additional, and Puel, Anne, additional

Published
2023
Full Text
View/download PDF

364. Autoimmunity in Down’s syndrome via cytokines, CD4 T cells and CD11c+ B cells

Author

Malle, Louise, primary, Patel, Roosheel S., additional, Martin-Fernandez, Marta, additional, Stewart, O Jay, additional, Philippot, Quentin, additional, Buta, Sofija, additional, Richardson, Ashley, additional, Barcessat, Vanessa, additional, Taft, Justin, additional, Bastard, Paul, additional, Samuels, Julie, additional, Mircher, Clotilde, additional, Rebillat, Anne-Sophie, additional, Maillebouis, Louise, additional, Vilaire-Meunier, Marie, additional, Tuballes, Kevin, additional, Rosenberg, Brad R., additional, Trachtman, Rebecca, additional, Casanova, Jean-Laurent, additional, Notarangelo, Luigi D., additional, Gnjatic, Sacha, additional, Bush, Douglas, additional, and Bogunovic, Dusan, additional

Published
2023
Full Text
View/download PDF

365. Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria

Author

Rosain, Jérémie, primary, Neehus, Anna-Lena, additional, Manry, Jérémy, additional, Yang, Rui, additional, Le Pen, Jérémie, additional, Daher, Wassim, additional, Liu, Zhiyong, additional, Chan, Yi-Hao, additional, Tahuil, Natalia, additional, Türel, Özden, additional, Bourgey, Mathieu, additional, Ogishi, Masato, additional, Doisne, Jean-Marc, additional, Izquierdo, Helena M., additional, Shirasaki, Takayoshi, additional, Le Voyer, Tom, additional, Guérin, Antoine, additional, Bastard, Paul, additional, Moncada-Vélez, Marcela, additional, Han, Ji Eun, additional, Khan, Taushif, additional, Rapaport, Franck, additional, Hong, Seon-Hui, additional, Cheung, Andrew, additional, Haake, Kathrin, additional, Mindt, Barbara C., additional, Pérez, Laura, additional, Philippot, Quentin, additional, Lee, Danyel, additional, Zhang, Peng, additional, Rinchai, Darawan, additional, Al Ali, Fatima, additional, Ahmad Ata, Manar Mahmoud, additional, Rahman, Mahbuba, additional, Peel, Jessica N., additional, Heissel, Søren, additional, Molina, Henrik, additional, Kendir-Demirkol, Yasemin, additional, Bailey, Rasheed, additional, Zhao, Shuxiang, additional, Bohlen, Jonathan, additional, Mancini, Mathieu, additional, Seeleuthner, Yoann, additional, Roelens, Marie, additional, Lorenzo, Lazaro, additional, Soudée, Camille, additional, Paz, María Elvira Josefina, additional, González, María Laura, additional, Jeljeli, Mohamed, additional, Soulier, Jean, additional, Romana, Serge, additional, L’Honneur, Anne-Sophie, additional, Materna, Marie, additional, Martínez-Barricarte, Rubén, additional, Pochon, Mathieu, additional, Oleaga-Quintas, Carmen, additional, Michev, Alexandre, additional, Migaud, Mélanie, additional, Lévy, Romain, additional, Alyanakian, Marie-Alexandra, additional, Rozenberg, Flore, additional, Croft, Carys A., additional, Vogt, Guillaume, additional, Emile, Jean-François, additional, Kremer, Laurent, additional, Ma, Cindy S., additional, Fritz, Jörg H., additional, Lemon, Stanley M., additional, Spaan, András N., additional, Manel, Nicolas, additional, Abel, Laurent, additional, MacDonald, Margaret R., additional, Boisson-Dupuis, Stéphanie, additional, Marr, Nico, additional, Tangye, Stuart G., additional, Di Santo, James P., additional, Zhang, Qian, additional, Zhang, Shen-Ying, additional, Rice, Charles M., additional, Béziat, Vivien, additional, Lachmann, Nico, additional, Langlais, David, additional, Casanova, Jean-Laurent, additional, Gros, Philippe, additional, and Bustamante, Jacinta, additional

Published
2023
Full Text
View/download PDF

367. Interleukin-23 receptor signaling impairs the stability and function of colonic regulatory T cells

Author

Jacobse, Justin, primary, Brown, Rachel E., additional, Li, Jing, additional, Pilat, Jennifer M., additional, Pham, Ly, additional, Short, Sarah P., additional, Peek, Christopher T., additional, Rolong, Andrea, additional, Washington, M. Kay, additional, Martinez-Barricarte, Ruben, additional, Byndloss, Mariana X., additional, Shelton, Catherine, additional, Markle, Janet G., additional, Latour, Yvonne L., additional, Allaman, Margaret M., additional, Cassat, James E., additional, Wilson, Keith T., additional, Choksi, Yash A., additional, Williams, Christopher S., additional, Lau, Ken S., additional, Flynn, Charles R., additional, Casanova, Jean-Laurent, additional, Rings, Edmond H.H.M., additional, Samsom, Janneke N., additional, and Goettel, Jeremy A., additional

Published
2023
Full Text
View/download PDF

368. Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe

Author

Kerner, Gaspard, primary, Neehus, Anna-Lena, additional, Philippot, Quentin, additional, Bohlen, Jonathan, additional, Rinchai, Darawan, additional, Kerrouche, Nacim, additional, Puel, Anne, additional, Zhang, Shen-Ying, additional, Boisson-Dupuis, Stéphanie, additional, Abel, Laurent, additional, Casanova, Jean-Laurent, additional, Patin, Etienne, additional, Laval, Guillaume, additional, and Quintana-Murci, Lluis, additional

Published
2023
Full Text
View/download PDF

369. A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing

Author

Nabavizadeh, Nasrinsadat, primary, Bressin, Annkatrin, additional, Shboul, Mohammad, additional, Moreno Traspas, Ricardo, additional, Chia, Poh Hui, additional, Bonnard, Carine, additional, Szenker‐Ravi, Emmanuelle, additional, Sarıbaş, Burak, additional, Beillard, Emmanuel, additional, Altunoglu, Umut, additional, Hojati, Zohreh, additional, Drutman, Scott, additional, Freier, Susanne, additional, El‐Khateeb, Mohammad, additional, Fathallah, Rajaa, additional, Casanova, Jean‐Laurent, additional, Soror, Wesam, additional, Arafat, Alaa, additional, Escande‐Beillard, Nathalie, additional, Mayer, Andreas, additional, and Reversade, Bruno, additional

Published
2023
Full Text
View/download PDF

370. Mendelian susceptibility to mycobacterial disease: an overview

Author

Errami, Abderrahmane, primary, El Baghdadi, Jamila, additional, Ailal, Fatima, additional, Benhsaien, Ibtihal, additional, Ouazahrou, Kaoutar, additional, Abel, Laurent, additional, Casanova, Jean-Laurent, additional, Boisson-Dupuis, Stephanie, additional, Bustamante, Jacinta, additional, and Bousfiha, Ahmed Aziz, additional

Published
2023
Full Text
View/download PDF

371. Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds

Author

Errami, Abderrahmane, primary, Baghdadi, Jamila El, additional, Ailal, Fatima, additional, Benhsaien, Ibtihal, additional, Bakkouri, Jalila El, additional, Jeddane, Leila, additional, Rada, Noureddine, additional, Benajiba, Noufissa, additional, Mokhantar, Khaoula, additional, Ouazahrou, Kaoutar, additional, Zaidi, Sanae, additional, Abel, Laurent, additional, Casanova, Jean-Laurent, additional, Boisson-Dupuis, Stéphanie, additional, Bustamante, Jacinta, additional, and Bousfiha, Ahmed Aziz, additional

Published
2023
Full Text
View/download PDF

372. Impaired thymic AIRE expression underlies autoantibodies against type I IFNs in humans with inborn errors of the alternative NF-kB pathway

Author

Voyer, Tom Le, primary, Gervais, Adrian, additional, Rosain, Jérémie, additional, Parent, Audrey, additional, Cederholm, Axel, additional, Rinchai, Darawan, additional, Bizien, Lucy, additional, Hancioglu, Gonca, additional, Philippot, Quentin, additional, Gueye, Mame Sokhna, additional, Luxman, Majistor Raj, additional, Renkilaraj, Maglorius, additional, Ogishi, Masato, additional, Soudée, Camille, additional, Migaud, Mélanie, additional, Rozenberg, Flore, additional, Momenilandi, Mana, additional, Riller, Quentin, additional, Imberti, Luisa, additional, Delmonte, Ottavia, additional, Müller, Gabriele, additional, Keller, Bärbel, additional, Orrego, Julio, additional, Gallego, William Alexander, additional, Rubin, Tamar, additional, Emiroglu, Melike, additional, Parvaneh, Nima, additional, Eriksson, Daniel, additional, Aranda-Guillen, Maribel, additional, Berrios, David I, additional, Vong, Linda, additional, Katelaris, Connie H, additional, Mustillo, Peter, additional, Rädler, Johannes, additional, Bohlen, Jonathan, additional, Celik, Jale Bengi, additional, Astudillo, Camila, additional, Winter, Sarah, additional, Guichard, Audrey, additional, Béziat, Vivien, additional, Bustamante, Jacinta, additional, Pan-Hammarström, Qiang, additional, Zhang, Yu, additional, Rosen, Lindsey B, additional, Holland, Steve M, additional, Kenney, Heather, additional, Boztuğ, Kaan, additional, Mahlaoui, Nizar, additional, Latour, Sylvain, additional, Abraham, Roshini, additional, Lougaris, Vassilios, additional, Hauck, Fabian, additional, Sediva, Anna, additional, Atschekzei, Faranaz, additional, Poli, M Cecilia, additional, Slatter, Mary A, additional, Palterer, Boaz, additional, Keller, Michael D, additional, Pinzon-Charry, Alberto, additional, Sullivan, Anna, additional, Droney, Luke, additional, Suan, Daniel, additional, Aladjidi, Nathalie, additional, Hie, Miguel, additional, Lazaro, Estibaliz, additional, Franco, Jose, additional, Keles, Sevgi, additional, Malphette, Marion, additional, Pasquet, Marlene, additional, Maccari, Maria Elena, additional, Meinhardt, Andrea, additional, Ikinciogullari, Aydan, additional, Shahrooei, Mohammad, additional, Celmeli, Fatih, additional, Frosk, Patrick, additional, Goodnow, Christopher C, additional, Gray, Paul E, additional, Belot, Alexandre, additional, Kuehn, Hye Sun, additional, Rosenzweig, Sergio D, additional, Licciardi, Francesco, additional, Servettaz, Amélie, additional, Barlogis, Vincent, additional, Guenno, Guillaume Le, additional, Herrmann, Vera-Maria, additional, Kuijpers, Taco, additional, Ducoux, Grégoire, additional, Sarrot-Reynauld, Françoise, additional, Schuetz, Catharina, additional, Cunningham-Rundles, Charlotte, additional, Rieux-Laucat, Frédéric, additional, Tangye, Stuart G, additional, Sobacchi, Cristina, additional, Doffinger, Rainer, additional, Warnatz, Klaus, additional, Grimbacher, Bodo, additional, Fieschi, Claire, additional, Berteloot, Laureline, additional, Bryant, Vanessa, additional, Assant, Sophie Trouillet, additional, Notarangelo, Luigi D, additional, Su, Helen, additional, Neven, Benedicte, additional, Abel, Laurent, additional, Zhang, Qian, additional, Boisson, Bertrand, additional, Cobat, Aurélie, additional, Jouanguy, Emmanuelle, additional, Kampe, Olle, additional, Bastard, Paul, additional, Roifman, Chaim, additional, Landegren, Nils, additional, Anderson, Mark S, additional, Casanova, Jean-Laurent, additional, and Puel, Anne, additional

Published
2023
Full Text
View/download PDF

374. Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapy

Author

Sobrino, Steicy, primary, Magnani, Alessandra, additional, Semeraro, Michaela, additional, Martignetti, Loredana, additional, Cortal, Akira, additional, Denis, Adeline, additional, Couzin, Chloé, additional, Picard, Capucine, additional, Bustamante, Jacinta, additional, Magrin, Elisa, additional, Joseph, Laure, additional, Roudaut, Cécile, additional, Gabrion, Aurélie, additional, Soheili, Tayebeh, additional, Cordier, Corinne, additional, Lortholary, Olivier, additional, Lefrere, François, additional, Rieux-Laucat, Frédéric, additional, Casanova, Jean-Laurent, additional, Bodard, Sylvain, additional, Boddaert, Nathalie, additional, Thrasher, Adrian J., additional, Touzot, Fabien, additional, Taque, Sophie, additional, Suarez, Felipe, additional, Marcais, Ambroise, additional, Guilloux, Agathe, additional, Lagresle-Peyrou, Chantal, additional, Galy, Anne, additional, Rausell, Antonio, additional, Blanche, Stephane, additional, Cavazzana, Marina, additional, and Six, Emmanuelle, additional

Published
2023
Full Text
View/download PDF

375. Is your kid actin out? A series of six patients with inherited ARPC1B deficiency and review of the literature

Author

Vásquez-Echeverri, Estefanía, primary, Yamazaki-Nakashimada, Marco Antonio, additional, Montoya, Edna Venegas, additional, Scheffler Mendoza, Selma Cecilia, additional, Castano-Jaramillo, Lina Maria, additional, Medina-Torres, Edgar Alejandro, additional, González-Serrano, Maria Edith, additional, Espinosa-Navarro, Melissa, additional, Bustamante Ogando, Juan Carlos, additional, González-Villarreal, María Guadalupe, additional, Ortega Cisneros, Margarita, additional, Mayoral, Pedro Francisco Valencia, additional, Sanchez, Alejandra Consuelo, additional, Varela-Fascinetto, Gustavo, additional, Ramírez-Uribe, Rosa María Nideshda, additional, Salazar Gálvez, Yuridia, additional, Bonifaz Alonzo, Laura Cecilia, additional, Fuentes Pananá, Ezequiel Moisés, additional, Gómez Hernández, Noemí, additional, Rojas Maruri, César Mauricio, additional, Casanova, Jean-Laurent, additional, Espinosa-Padilla, Sara Elva, additional, Staines Boone, Aidé Tamara, additional, López-Velázquez, Gabriel, additional, Boisson, Bertrand, additional, and Lugo Reyes, Saul Oswaldo, additional

Published
2023
Full Text
View/download PDF

376. Inflammatory markers and auto-Abs to type I IFNs in COVID-19 convalescent plasma cohort study

Author

Cognasse, Fabrice, primary, Hamzeh-Cognasse, Hind, additional, Rosa, Mickael, additional, Corseaux, Delphine, additional, Bonneaudeau, Brigitte, additional, Pierre, Chloe, additional, Huet, Julie, additional, Arthaud, Charles Antoine, additional, Eyraud, Marie Ange, additional, Prier, Amélie, additional, Duchez, Anne Claire, additional, Ebermeyer, Theo, additional, Heestermans, Marco, additional, Audoux-Caire, Estelle, additional, Philippot, Quentin, additional, Le Voyer, Tom, additional, Hequet, Olivier, additional, Fillet, Anne-Marie, additional, Chavarin, Patricia, additional, Legrand, Dominique, additional, Richard, Pascale, additional, Pirenne, France, additional, Gallian, Pierre, additional, Casanova, Jean Laurent, additional, Susen, Sophie, additional, Morel, Pascal, additional, Lacombe, Karine, additional, Bastard, Paul, additional, and Tiberghien, Pierre, additional

Published
2023
Full Text
View/download PDF

377. Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

Author

Ma, Cindy S., Wong, Natalie, Rao, Geetha, Avery, Danielle T., Torpy, James, Hambridge, Thomas, Bustamante, Jacinta, Okada, Satoshi, Stoddard, Jennifer L., Deenick, Elissa K., Pelham, Simon J., Payne, Kathryn, Boisson-Dupuis, Stéphanie, Puel, Anne, Kobayashi, Masao, Arkwright, Peter D., Kilic, Sara Sebnem, El Baghdadi, Jamila, Nonoyama, Shigeaki, Minegishi, Yoshiyuki, Mahdaviani, Seyed Alireza, Mansouri, Davood, Bousfiha, Aziz, Blincoe, Annaliesse K., French, Martyn A., Hsu, Peter, Campbell, Dianne E., Stormon, Michael O., Wong, Melanie, Adelstein, Stephen, Smart, Joanne M., Fulcher, David A., Cook, Matthew C., Phan, Tri Giang, Stepensky, Polina, Boztug, Kaan, Kansu, Aydan, İkincioğullari, Aydan, Baumann, Ulrich, Beier, Rita, Roscioli, Tony, Ziegler, John B., Gray, Paul, Picard, Capucine, Grimbacher, Bodo, Warnatz, Klaus, Holland, Steven M., Casanova, Jean-Laurent, Uzel, Gulbu, and Tangye, Stuart G.

Published
2015
Full Text
View/download PDF

380. Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species–induced meningoencephalitis, colitis, or both

Author

Lanternier, Fanny, Mahdaviani, Seyed Alireza, Barbati, Elisa, Chaussade, Hélène, Koumar, Yatrika, Levy, Romain, Denis, Blandine, Brunel, Anne-Sophie, Martin, Sophie, Loop, Michèle, Peeters, Julie, de Selys, Ariel, Vanclaire, Jean, Vermylen, Christiane, Nassogne, Marie-Cécile, Chatzis, Olga, Liu, Luyan, Migaud, Mélanie, Pedergnana, Vincent, Desoubeaux, Guillaume, Jouvion, Gregory, Chretien, Fabrice, Darazam, Ilad Alavi, Schäffer, Alejandro A., Netea, Mihai G., De Bruycker, Jean J., Bernard, Louis, Reynes, Jacques, Amazrine, Noureddine, Abel, Laurent, Van der Linden, Dimitri, Harrison, Tom, Picard, Capucine, Lortholary, Olivier, Mansouri, Davood, Casanova, Jean-Laurent, and Puel, Anne

Published
2015
Full Text
View/download PDF

385. In memoriam: Stephen J Seligman, MD

Author

Casanova, Jean-Laurent, Zhang, Qian, Bastard, Paul, and Jouanguy, Emmanuelle

Subjects
Risk Factors, Vaccination, Yellow Fever Vaccine, Commentary, Humans
Published
2022

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

Author

Lee, Danyel, Le Pen, Jérémie, Yatim, Ahmad, Dong, Beihua, Aquino, Yann, Ogishi, Masato, Pescarmona, Rémi, Talouarn, Estelle, Rinchai, Darawan, Zhang, Peng, Perret, Magali, Liu, Zhiyong, Jordan, Iolanda, Elmas Bozdemir, Sefika, Bayhan, Gulsum Iclal, Beaufils, Camille, Bizien, Lucy, Bisiaux, Aurelie, Lei, Weite, Hasan, Milena, Chen, Jie, Gaughan, Christina, Asthana, Abhishek, Libri, Valentina, Luna, Joseph, Jaffré, Fabrice, Hoffmann, H.-Heinrich, Michailidis, Eleftherios, Moreews, Marion, Seeleuthner, Yoann, Bilguvar, Kaya, Mane, Shrikant, Flores, Carlos, Zhang, Yu, Arias, Andrés, Bailey, Rasheed, Schlüter, Agatha, Milisavljevic, Baptiste, Bigio, Benedetta, Le Voyer, Tom, Materna, Marie, Gervais, Adrian, Moncada-Velez, Marcela, Pala, Francesca, Lazarov, Tomi, Levy, Romain, Neehus, Anna-Lena, Rosain, Jérémie, Peel, Jessica, Chan, Yi-Hao, Morin, Marie-Paule, Pino-Ramirez, Rosa Maria, Belkaya, Serkan, Lorenzo, Lazaro, Anton, Jordi, Delafontaine, Selket, Toubiana, Julie, Bajolle, Fanny, Fumadó, Victoria, Dediego, Marta, Fidouh, Nadhira, Rozenberg, Flore, Pérez-Tur, Jordi, Chen, Shuibing, Evans, Todd, Geissmann, Frédéric, Lebon, Pierre, Weiss, Susan, Bonnet, Damien, Duval, Xavier, Pan-Hammarström, Qiang, Planas, Anna, Meyts, Isabelle, Haerynck, Filomeen, Pujol, Aurora, Sancho-Shimizu, Vanessa, Dalgard, Clifford, Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Boisson, Bertrand, Maniatis, Tom, Zhang, Qian, Bastard, Paul, Notarangelo, Luigi, Béziat, Vivien, Perez de Diego, Rebeca, Rodriguez-Gallego, Carlos, Su, Helen, Lifton, Richard, Jouanguy, Emmanuelle, Cobat, Aurélie, Alsina, Laia, Keles, Sevgi, Haddad, Elie, Abel, Laurent, Belot, Alexandre, Quintana-Murci, Lluis, Rice, Charles, Silverman, Robert, Zhang, Shen-Ying, Casanova, Jean-Laurent, Alavoine, Loubna, Behillil, Sylvie, Burdet, Charles, Charpentier, Charlotte, Dechanet, Aline, Descamps, Diane, Ecobichon, Jean-Luc, Enouf, Vincent, Frezouls, Wahiba, Houhou, Nadhira, Kafif, Ouifiya, Lehacaut, Jonathan, Letrou, Sophie, Lina, Bruno, Lucet, Jean-Christophe, Manchon, Pauline, Nouroudine, Mariama, Piquard, Valentine, Quintin, Caroline, Thy, Michael, Tubiana, Sarah, van der Werf, Sylvie, Vignali, Valérie, Visseaux, Benoit, Yazdanpanah, Yazdan, Chahine, Abir, Waucquier, Nawal, Migaud, Maria-Claire, Deplanque, Dominique, Djossou, Félix, Mergeay-Fabre, Mayka, Lucarelli, Aude, Demar, Magalie, Bruneau, Léa, Gérardin, Patrick, Maillot, Adrien, Payet, Christine, Laviolle, Bruno, Laine, Fabrice, Paris, Christophe, Desille-Dugast, Mireille, Fouchard, Julie, Malvy, Denis, Nguyen, Duc, Pistone, Thierry, Perreau, Pauline, Gissot, Valérie, Le Goas, Carole, Montagne, Samatha, Richard, Lucie, Chirouze, Catherine, Bouiller, Kévin, Desmarets, Maxime, Meunier, Alexandre, Lefèvre, Benjamin, Jeulin, Hélène, Legrand, Karine, Lomazzi, Sandra, Tardy, Bernard, Gagneux-Brunon, Amandine, Bertholon, Frédérique, Botelho-Nevers, Elisabeth, Christelle, Kouakam, Nicolas, Leturque, Roufai, Layidé, Amat, Karine, Couffin-Cadiergues, Sandrine, Espérou, Hélène, Hendou, Samia, Abolhassani, Hassan, Aguilera-Albesa, Sergio, Aiuti, Alessandro, Akcan, Ozge Metin, Akcay, Nihal, Alkan, Gulsum, Alkhater, Suzan, Allende, Luis Miguel, Alper, Yosunkaya, Amenzoui, Naima, Anderson, Mark, Arkin, Lisa, Aubart, Melodie, Avramenko, Iryna, Aydemir, Şehnaz, Gayretli Aydin, Zeynep Gökçe, Aytekin, Caner, Aytekin, Gökhan, Erol Aytekin, Selma, Bando, Silvia Yumi, Beland, Kathie, Biggs, Catherine, Bilbao Aburto, Agurtzane, Blanchard-Rohner, Geraldine, Blázquez-Gamero, Daniel, Bloomfield, Marketa, Bogunovic, Dusan, Bondarenko, Anastasia, Borghesi, Alessandro, Bousfiha, Amed Aziz, Boyarchuk, Oksana, Brodin, Petter, Bryceson, Yenan, Bucciol, Giorgia, Calcaterra, Valeria, Casari, Giorgio, Cavalcanti, Andre, Celik, Jale Bengi, Chrousos, George, Colobran, Roger, Condino-Neto, Antonio, Conti, Francesca, Cooper, Megan, Coskuner, Taner, Cyrus, Cyril, D’auria, Enza, Drolet, Beth, Bursal Duramaz, Burcu, El Zein, Loubna, Elnagdy, Marwa, Emiroglu, Melike, Erdeniz, Emine Hafize, Fabi, Marianna, Baris Feldman, Hagit, Fellay, Jacques, Fencl, Filip, Filippatos, Filippos, Freiss, Julie, Fremuth, Jiri, Gagro, Alenka, Garcia-Solis, Blanca, Vergine, Gianluca, González-Montelongo, Rafaela, Gul, Yahya, Gülhan, Belgin, Gultekin, Sara Sebnem Kilic, Gut, Marta, Halwani, Rabih, Hammarström, Lennart, Hatipoğlu, Nevin, Heath, James, Henrickson, Sarah, Hernandez-Brito, Elisa, Hoffman, Ilse, Hoste, Levi, Hsieh, Elena, Íñigo-Campos, Antonio, Itan, Yuval, Jabandziev, Petr, Kandemir, Bahar, Kanık-Yüksek, Saliha, Kapakli, Hasan, Karbuz, Adem, Kasapcopur, Ozgur, Kechiche, Robin, Kendir Demirkol, Yasemin, Kilic, Omer, Hansen, Stella Kim, Klocperk, Adam, Lau, Yu-Lung, Lebl, Jan, Lorenzo-Salazar, José, Lucas, Carrie, Maglorius, Majistor, Marque, Laura, Novoa Medina, Yeray, Montesdeoca Melián, Abián, Mentis, Alexios-Fotios, Pato, Michele, Michos, Athanasios, Milner, Joshua, Mogensen, Trine, Muñoz-Barrera, Adrián, Nepesov, Serdar, Farela Neves, João, Ng, Ashley, Ng, Lisa, Novelli, Antonio, Novelli, Giuseppe, Oz, Fatma Nur, Ocejo-Viñals, J. Gonzalo, Okada, Satoshi, Orbak, Zerrin, Kilic, Ahmet Osman, Ouair, Hind, Öz, Şadiye Kübra Tüter, Özçelik, Tayfun, Özkan, Esra Akyüz, Parlakay, Aslınur Özkaya, Pato, Carlos, Paz-Artal, Estela, Pelham, Simon, Pellier, Isabelle, Philippot, Quentin, Planas-Serra, Laura, Plassart, Samira, Pokorna, Petra, Polat, Meltem, Poli, Cecilia, Prando, Carolina, Renia, Laurent, Rivière, Jacques, Rodríguez-Palmero, Agustí, Roussel, Lucie, Rubio-Rodriguez, Luis, Salifu, Moro, Sasek, Lumir, Sasia, Laura, Scherbina, Anna, Schmitt, Erica, Sediva, Anna, Sevketoglu, Esra, Slaba, Katerina, Slaby, Ondrej, Sobh, Ali, Solé-Violán, Jordi, Soler-Palacin, Pere, de Somer, Lien, Sözeri, Betül, Spaan, András, Stepanovskiy, Yuriy, Tangye, Stuart, Tanir, Gonul, Tatsi, Elizabeth Barbara, Thorball, Christian, Hancerli Torun, Selda, Turvey, Stuart, Uddin, Mohammed, Uyar, Emel, Valencia-Ramos, Juan, van den Rym, Ana Maria, Vatansev, Hulya, Castillo de Vera, Martín, Vermeulen, François, Vinh, Donald, Volokha, Alla, von Bernuth, Horst, Wouters, Carine, Yahşi, Aysun, Yarar, Volkan, Yesilbas, Osman, Yıldız, Mehmet, Zatz, Mayana, Zawadzki, Pawel, Zuccotti, Gianvincenzo, Rockefeller University [New York], Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Génomique évolutive, modélisation et santé (GEMS), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des rhumatismes inflammatoires et maladies auto-immunes systémiques rares de l’enfant / National Referee Centre for Rheumatic and AutoImmune and Systemic Diseases in Children [Lyon] (RAISE), Hospices Civils de Lyon (HCL), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-École nationale supérieure agronomique de Toulouse (ENSAT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Sidra Medicine [Doha, Qatar], BIOASTER Technology Research Institute, Lyon, France, St. Giles Laboratory of Human Genetics of Infectious Diseases, Department of Paediatrics and Intensive Care, Hospital Universitari Sant Joan de Deu, Human genetics of infectious diseases : Mendelian predisposition (Equipe Inserm U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Département de Pédiatrie et maladies infectieuses [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique Evolutive Humaine - Human Evolutionary Genetics, Centre de Recherche Translationnelle - Center for Translational Science (CRT), Institut Pasteur [Paris] (IP)-Université Paris Cité (UPCité), Shanghai Jiaotong University, Sheffield Hallam University, Institut Jean Lamour (IJL), Institut de Chimie du CNRS (INC)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Infection, Anti-microbiens, Modélisation, Evolution (IAME (UMR_S_1137 / U1137)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Centre d'investigation Clinique [CHU Bichat] - Épidémiologie clinique (CIC 1425), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biodiversité et Epidémiologie des Bactéries pathogènes - Biodiversity and Epidemiology of Bacterial Pathogens, Centre d'Investigation Clinique - Innovation Technologique de Lille - CIC 1403 - CIC 9301 (CIC Lille), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre d'Investigation Clinique Antilles-Guyane (CIC - Antilles Guyane), Université des Antilles et de la Guyane (UAG)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pointe-à-Pitre/Abymes [Guadeloupe] -CHU de Fort de France-Centre Hospitalier Andrée Rosemon [Cayenne, Guyane Française], Centre d'Investigation Clinique de La Réunion - INSERM (CIC 1410), Université de La Réunion (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], The Laboratory of Human Genetics of Infectious Diseases is supported by the Howard Hughes Medical Institute, the Rockefeller University, the St. Giles Foundation, the National Institutes of Health (NIH) (R01AI088364 and R21AI160576), the National Center for Advancing Translational Sciences (NCATS), NIH Clinical and Translational Science Award (CTSA) program (UL1TR001866), the Yale Center for Mendelian Genomics and the GSP Coordinating Center funded by the National Human Genome Research Institute (NHGRI) (UM1HG006504 and U24HG008956), the Yale High-Performance Computing Center (S10OD018521), the Fisher Center for Alzheimer’s Research Foundation, the Meyer Foundation, the JBP Foundation, the French National Research Agency (ANR) under the 'Investments for the Future' program (ANR-10-IAHU-01), the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID), the French Foundation for Medical Research (FRM) (EQU201903007798), the ANR GenMISC (ANR-21-COVR-039), the ANRS-COV05, ANR GENVIR (ANR-20-CE93-003) and ANR AABIFNCOV (ANR-20-CO11-0001) projects, the ANR-RHU program (ANR-21-RHUS-08), the European Union’s Horizon 2020 research and innovation program under grant agreement 824110 (EASI-genomics), the HORIZON-HLTH-2021-DISEASE-04 program under grant agreement 01057100 (UNDINE), the ANR-RHU Program ANR-21-RHUS-08 (COVIFERON), the Square Foundation, Grandir – Fonds de solidarité pour l’enfance, the Fondation du Souffle, the SCOR Corporate Foundation for Science, the French Ministry of Higher Education, Research, and Innovation (MESRI-COVID-19), Institut National de la Santé et de la Recherche Médicale (INSERM), and Paris Cité University. We acknowledge support from the National Institute of Allergy and Infectious Diseases (NIAID) of the NIH under award R01AI104887 to R.H.S. and S.R.W. The Laboratory of Human Evolutionary Genetics (Institut Pasteur) is supported by the Institut Pasteur, the Collège de France, the French Government’s Investissement d’Avenir program, Laboratoires d’Excellence 'Integrative Biology of Emerging Infectious Diseases' (ANR-10-LABX-62-IBEID) and 'Milieu Intérieur' (ANR-10-LABX-69-01), the Fondation de France (no. 00106080), the FRM (Equipe FRM DEQ20180339214 team), and the ANR COVID-19-POPCELL (ANR-21-CO14-0003-01). A.Puj. is supported by ACCI20-759 CIBERER, EasiGenomics H2020 Marató TV3 COVID 2021-31-33, the HORIZON-HLTH-2021-ID: 101057100 (UNDINE), the Horizon 2020 program under grant no. 824110 (EasiGenomics grant no. COVID-19/PID12342), and the CERCA Program/Generalitat de Catalunya. The Canarian Health System sequencing hub was funded by the Instituto de Salud Carlos III (COV20_01333 and COV20_01334), the Spanish Ministry of Science and Innovation (RTC-2017-6471-1, AEI/FEDER, UE), Fundación MAPFRE Guanarteme (OA21/131), and Cabildo Insular de Tenerife (CGIEU0000219140 and 'Apuestas científicas del ITER para colaborar en la lucha contra la COVID-19'). The CoV-Contact Cohort was funded by the French Ministry of Health and the European Commission (RECOVER project). Our studies are also funded by the Ministry of Health of the Czech Republic Conceptual Development of Research Organization (FNBr, 65269705) and ANID COVID0999 funding in Chile. G. Novelli and A. Novelli are supported by Regione Lazio (Research Group Projects 2020) No. A0375-2020-36663, GecoBiomark. A.M.P., M.L.D., and J.P.-T. are supported by the Inmungen-CoV2 project of CSIC. This work was supported in part by the Intramural Research Program of the NIAID, NIH. The research work of A.M.P, M.L.D., and J.P.-T. was funded by the European Commission –NextGenerationEU (Regulation EU 2020/2094), through CSIC’s Global Health Platform (PTI Salud Global). I.M. is a senior clinical investigator at FWO Vlaanderen supported by a VIB GC PID grant, by FWO grants G0B5120N (DADA2) and G0E8420N, and by the Jeffrey Modell Foundation. I.M. holds an ERC-StG MORE2ADA2 grant and is also supported by ERN-RITA.​ A.Y. is supported by fellowships from the European Academy of Dermatology and Venereology and the Swiss National Science Foundation and by an Early Career Award from the Thrasher Research Fund. Y.-H.C. is supported by an A*STAR International Fellowship (AIF). M.O. was supported by the David Rockefeller Graduate Program, the New York Hideyo Noguchi Memorial Society (HNMS), the Funai Foundation for Information Technology (FFIT), the Honjo International Scholarship Foundation (HISF), and the National Cancer Institute (NCI) F99 Award (F99CA274708). A.A.A. was supported by Ministerio de Ciencia Tecnología e Innovación MINCIENCIAS, Colombia (111584467551/CT 415-2020). D.L. is supported by a fellowship from the FRM for medical residents and fellows. E.H. received funding from the Bank of Montreal Chair of Pediatric Immunology, Foundation of CHU Sainte-Justine, CIHR grants PCC-466901 and MM1-181123, and a Canadian Pediatric Society IMPACT study. Q.P.-H. received funding from the European Union’s Horizon 2020 research and innovation program (ATAC, 101003650), the Swedish Research Council, and the Knut and Alice Wallenberg Foundation. Work in the Laboratory of Virology and Infectious Disease was supported by NIH grants P01AI138398-S1, 2U19AI111825, R01AI091707-10S1, and R01AI161444, a George Mason University Fast Grant, the G. Harold and Leila Y. Mathers Charitable Foundation, the Meyer Foundation, and the Bawd Foundation. R.P.L. is on the board of directors of both Roche and the Roche subsidiary Genentech. J.L.P. was supported by a Francois Wallace Monahan Postdoctoral Fellowship at the Rockefeller University and by a European Molecular Biology Organization Long-Term Fellowship (ALTF 380-2018)., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-21-COVR-0039,GenMIS-C,Recherche des Déficits immunitaires innées monogéniques prédisposant au syndrome inflammatoire multisystémique chez l'enfant.(2021), ANR-20-CE93-0003,GENVIR,Analyse multi-omique de l'immunité anti-virale: de l'identification des circuits biologiques pertinents à la découverte de défauts monogéniques héréditaires de l'immunité chez les patients avec infections virales sévères(2020), ANR-20-CO11-0001,AABIFNCOV,Bases génétiques et immunologiques des auto-anticorps contre les interférons de type I prédisposant aux formes sévères de COVID-19.(2020), ANR-21-RHUS-0008,COVIFERON,Covid-19 and interferons: from discovery to therapy(2021), ANR-10-LABX-0069,MILIEU INTERIEUR,GENETIC & ENVIRONMENTAL CONTROL OF IMMUNE PHENOTYPE VARIANCE: ESTABLISHING A PATH TOWARDS PERSONALIZED MEDICINE(2010), ANR-21-CO14-0003,COVID-19-POPCELL,Facteurs génétiques et infectieux à l'origine de la variabilité populationnelle de la réponse immunitaire à l'infection par le SARS-CoV-2(2021), European Project: 824110,H2020-INFRAIA-2018-1,EASI-Genomics(2019), European Project: 101057100,UNDINE, Howard Hughes Medical Institute, Rockefeller University, St. Giles Foundation, National Institutes of Health (US), Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Fundación Mapfre, Cabildo de Tenerife, Fundació La Marató de TV3, Centro de Investigación Biomédica en Red Enfermedades Raras (España), Consejo Superior de Investigaciones Científicas (España), European Commission, and Pérez-Tur, Jordi

Subjects
Multidisciplinary, Settore MED/03, [SDV]Life Sciences [q-bio], Medicine and Health Sciences, CoV-Contact Cohort§
Abstract

62 páginas, 5 figuras, 2 tablas, Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or RNASEL in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)-sensing OAS1 and OAS2 generate 2'-5'-linked oligoadenylates (2-5A) that activate the single-stranded RNA-degrading ribonuclease L (RNase L). Monocytic cell lines and primary myeloid cells with OAS1, OAS2, or RNase L deficiencies produce excessive amounts of inflammatory cytokines upon dsRNA or severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) stimulation. Exogenous 2-5A suppresses cytokine production in OAS1-deficient but not RNase L-deficient cells. Cytokine production in RNase L-deficient cells is impaired by MDA5 or RIG-I deficiency and abolished by mitochondrial antiviral-signaling protein (MAVS) deficiency. Recessive OAS-RNase L deficiencies in these patients unleash the production of SARS-CoV-2-triggered, MAVS-mediated inflammatory cytokines by mononuclear phagocytes, thereby underlying MIS-C, The Laboratory of Human Genetics of Infectious Diseases is supported by the Howard Hughes Medical Institute, the Rockefeller University, the St. Giles Foundation, the National Institutes of Health (NIH) (R01AI088364 and R21AI160576), the National Center for Advancing Translational Sciences (NCATS), NIH Clinical and Translational Science Award (CTSA) program (UL1TR001866), the Yale Center for Mendelian Genomics and the GSP Coordinating Center funded by the National Human Genome Research Institute (NHGRI) (UM1HG006504 and U24HG008956), the Yale High-Performance Computing Center (S10OD018521), the Fisher Center for Alzheimer’s Research Foundation, the Meyer Foundation, the JBP Foundation, the French National Research Agency (ANR) under the “Investments for the Future” program (ANR-10-IAHU-01), the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10- LABX-62-IBEID), the French Foundation for Medical Research (FRM) (EQU201903007798), the ANR GenMISC (ANR-21-COVR-039), the ANRS-COV05, ANR GENVIR (ANR-20-CE93-003) and ANR AABIFNCOV (ANR-20-CO11-0001) projects, the ANR-RHU program (ANR-21-RHUS-08), the European Union’s Horizon 2020 research and innovation program under grant agreement 824110 (EASI-genomics), the HORIZON-HLTH-2021-DISEASE-04 program under grant agreement 01057100 (UNDINE), the ANR-RHU Program ANR-21- RHUS-08 (COVIFERON), the Square Foundation, Grandir – Fonds de solidarité pour l’enfance, the Fondation du Souffle, the SCOR Corporate Foundation for Science, the French Ministry of Higher Education, Research, and Innovation (MESRI-COVID-19), Institut National de la Santé et de la Recherche Médicale (INSERM), and Paris Cité University. We acknowledge support from the National Institute of Allergy and Infectious Diseases (NIAID) of the NIH under award R01AI104887 to R.H.S. and S.R.W. The Laboratory of Human Evolutionary Genetics (Institut Pasteur) is supported by the Institut Pasteur, the Collège de France, the French Government’s Investissement d’Avenir program, Laboratoires d’Excellence “Integrative Biology of Emerging Infectious Diseases” (ANR-10-LABX-62-IBEID) and “Milieu Intérieur” (ANR-10-LABX-69-01), the Fondation de France (no. 00106080), the FRM (Equipe FRM DEQ20180339214 team), and the ANR COVID-19-POPCELL (ANR-21-CO14-0003-01). A.Puj. is supported by ACCI20-759 CIBERER, EasiGenomics H2020 Marató TV3 COVID 2021-31-33, the HORIZON-HLTH-2021-ID: 101057100 (UNDINE), the Horizon 2020 program under grant no. 824110 (EasiGenomics grant no. COVID-19/PID12342), and the CERCA Program/Generalitat de Catalunya. The Canarian Health System sequencing hub was funded by the Instituto de Salud Carlos III (COV20_01333 and COV20_01334), the Spanish Ministry of Science and Innovation (RTC-2017-6471-1; AEI/FEDER, UE), Fundación MAPFRE Guanarteme (OA21/131), and Cabildo Insular de Tenerife (CGIEU0000219140 and “Apuestas científicas del ITER para colaborar en la lucha contra la COVID-19”). The CoV-Contact Cohort was funded by the French Ministry of Health and the European Commission (RECOVER project). Our studies are also funded by the Ministry of Health of the Czech Republic Conceptual Development of Research Organization (FNBr, 65269705) and ANID COVID0999 funding in Chile. G. Novelli and A. Novelli are supported by Regione Lazio (Research Group Projects 2020) No. A0375-2020-36663, GecoBiomark. A.M.P., M.L.D., and J.P.-T. are supported by the Inmungen-CoV2 project of CSIC. This work was supported in part by the Intramural Research Program of the NIAID, NIH. The research work of A.M..P, M.L.D., and J.P.-T. was funded by the European Commission –NextGenerationEU (Regulation EU 2020/2094), through CSIC’s Global Health Platform (PTI Salud Global). I.M. is a senior clinical investigator at FWO Vlaanderen supported by a VIB GC PID grant, by FWO grants G0B5120N (DADA2) and G0E8420N, and by the Jeffrey Modell Foundation. I.M. holds an ERC-StG MORE2ADA2 grant and is also supported by ERN-RITA. A.Y. is supported by fellowships from the European Academy of Dermatology and Venereology and the Swiss National Science Foundation and by an Early Career Award from the Thrasher Research Fund. Y.-H.C. is supported by an A*STAR International Fellowship (AIF). M.O. was supported by the David Rockefeller Graduate Program, the New York Hideyo Noguchi Memorial Society (HNMS), the Funai Foundation for Information Technology (FFIT), the Honjo International Scholarship Foundation (HISF), and the National Cancer Institute (NCI) F99 Award (F99CA274708). A.A.A. was supported by Ministerio de Ciencia Tecnología e Innovación MINCIENCIAS, Colombia (111584467551/CT 415-2020). D.L. is supported by a fellowship from the FRM for medical residents and fellows. E.H. received funding from the Bank of Montreal Chair of Pediatric Immunology, Foundation of CHU Sainte-Justine, CIHR grants PCC-466901 and MM1-181123, and a Canadian Pediatric Society IMPACT study. Q.P.-H. received funding from the European Union’s Horizon 2020 research and innovation program (ATAC, 101003650), the Swedish Research Council, and the Knut and Alice Wallenberg Foundation. Work in the Laboratory of Virology and Infectious Disease was supported by NIH grants P01AI138398-S1, 2U19AI111825, R01AI091707-10S1, and R01AI161444; a George Mason University Fast Grant; the G. Harold and Leila Y. Mathers Charitable Foundation; the Meyer Foundation; and the Bawd Foundation. R.P.L. is on the board of directors of both Roche and the Roche subsidiary Genentech. J.L.P. was supported by a Francois Wallace Monahan Postdoctoral Fellowship at the Rockefeller University and by a European Molecular Biology Organization Long-Term Fellowship (ALTF 380-2018).

Published
2023
Full Text
View/download PDF

387. Additional file 1 of Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Author

Matuozzo, Daniela, Talouarn, Estelle, Marchal, Astrid, Zhang, Peng, Manry, Jeremy, Seeleuthner, Yoann, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Barzaghi, Federica, Abolhassani, Hassan, Abou Tayoun, Ahmad, Aiuti, Alessandro, Alavi Darazam, Ilad, Allende, Luis M., Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bergman, Peter, Bondesan, Simone, Bryceson, Yenan T., Bustos, Ingrid G., Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobran, Roger, Condino-Neto, Antonio, Covill, Laura E., Delmonte, Ottavia M., El Zein, Loubna, Flores, Carlos, Gregersen, Peter K., Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, Martinez-Picado, Javier, Metin Akcan, Ozge, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Martin-Nalda, Andrea, Novelli, Giuseppe, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, Laura, Pleguezuelo, Daniel E., Prando, Carolina, Pujol, Aurora, Reyes, Luis Felipe, Rivière, Jacques G., Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Schlüter, Agatha, Shahrooei, Mohammad, Sobh, Ali, Soler-Palacin, Pere, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M., Baris-Feldman, Hagit, Butte, Manish J., Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Fellay, Jacques, Heath, James R., Lau, Yu-Lung, Lifton, Richard P., Maniatis, Tom, Mogensen, Trine H., von Bernuth, Horst, Lermine, Alban, Vidaud, Michel, Boland, Anne, Deleuze, Jean-François, Nussbaum, Robert, Kahn-Kirby, Amanda, Mentre, France, Tubiana, Sarah, Gorochov, Guy, Tubach, Florence, Hausfater, Pierre, Meyts, Isabelle, Zhang, Shen-Ying, Puel, Anne, Notarangelo, Luigi D., Boisson-Dupuis, Stephanie, Su, Helen C., Boisson, Bertrand, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Zhang, Qian, Abel, Laurent, and Cobat, Aurélie

Abstract

Additional file 1: Supplementary Methods. Fig S1. Luciferase assay on HEK293T cells transfected with the pGL4.32 luciferase reporter construct and an expression vector for Renilla luciferase together with no vector (mock), EV, WT, or 4 TLR7 variants found in our cohort. After 24 h, transfected cells were left untreated or were treated by incubation with 1 μg/mL R848 for 24 h. These data were established from two independent experiments. The y-axis represents NF-κB transcriptional activity as a percentage of the WT. The x-axis indicates the alleles used for transfection. Fig S2. Age distribution as boxplot and violin plot of the critical COVID-19 cases according to the carrier status of pLOF/bLOF at 15 type I IFN-related loci. Mean age of the patients for each category is shown in red. T-test was used to compare the means, showing a significant difference between non-carriers and carriers of heterozygous or homozygous/hemizygous variants (P = 2.2 × 10−6) and between heterozygous carriers and homozygous/hemizygous carriers (P = 0.008). Fig S3. Empirical power of our sample to detect an association at the 2.5 × 10−6 exome-wide significance threshold for various relative risks and proportion of carriers of at least one disease causing variant in the general population (PD), as estimated by simulation study (N = 1000 replicates).

Published
2023
Full Text
View/download PDF

388. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

Author

Bousfiha, Aziz, Jeddane, Leïla, Picard, Capucine, Ailal, Fatima, Bobby Gaspar, H., Al-Herz, Waleed, Chatila, Talal, Crow, Yanick J., Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M., Klein, Christoph, Morio, Tomohiro, Ochs, Hans D., Oksenhendler, Eric, Puck, Jennifer, Tang, Mimi L. K., Tangye, Stuart G., Torgerson, Troy R., Casanova, Jean-Laurent, and Sullivan, Kathleen E.

Published
2017
Full Text
View/download PDF

389. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

Author

Picard, Capucine, Bobby Gaspar, H., Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Crow, Yanick J., Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M., Klein, Christoph, Morio, Tomohiro, Ochs, Hans D., Oksenhendler, Eric, Puck, Jennifer, Tang, Mimi L. K., Tangye, Stuart G., Torgerson, Troy R., and Sullivan, Kathleen E.

Published
2017
Full Text
View/download PDF

390. Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency

Author

Arias, Andrés Augusto, Perez-Velez, Carlos M., Orrego, Julio César, Moncada-Velez, Marcela, Rojas, Jessica Lineth, Wilches, Alejandra, Restrepo, Andrea, Trujillo, Mónica, Garcés, Carlos, Arango-Ferreira, Catalina, González, Natalia, Oleaga-Quintas, Carmen, Fernández, Diana, Isaza-Correa, Johana Marcela, Gongóra, Diego Eduardo, Gonzalez-Loaiza, Daniel, Sierra, Juan Esteban, Casanova, Jean Laurent, Bustamante, Jacinta, and Franco, José Luis

Published
2017
Full Text
View/download PDF

396. The human gene damage index as a gene-level approach to prioritizing exome variants

Author

Itan, Yuval, Shang, Lei, Boisson, Bertrand, Patin, Etienne, Bolze, Alexandre, Moncada-Vélez, Marcela, Scott, Eric, Ciancanelli, Michael J., Lafaille, Fabien G., Markle, Janet G., Martinez-Barricarte, Ruben, de Jong, Sarah Jill, Kong, Xiao-Fei, Nitschke, Patrick, Belkadi, Aziz, Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Stenson, Peter D., Gleeson, Joseph G., Cooper, David N., Quintana-Murci, Lluis, Claverie, Jean-Michel, Zhang, Shen-Ying, Abel, Laurent, and Casanova, Jean-Laurent

Published
2015

398. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

Author

Okada, Satoshi, Markle, Janet G., Deenick, Elissa K., Mele, Federico, Averbuch, Dina, Lagos, Macarena, Alzahrani, Mohammed, Al-Muhsen, Saleh, Halwani, Rabih, Ma, Cindy S., Wong, Natalie, Soudais, Claire, Henderson, Lauren A., Marzouqa, Hiyam, Shamma, Jamal, Gonzalez, Marcela, Martinez-Barricarte, Rubén, Okada, Chizuru, Avery, Danielle T., Latorre, Daniela, Deswarte, Caroline, Jabot-Hanin, Fabienne, Torrado, Egidio, Fountain, Jeffrey, Belkadi, Aziz, Itan, Yuval, Boisson, Bertrand, Migaud, Mélanie, Arlehamn, Cecilia S. Lindestam, Sette, Alessandro, Breton, Sylvain, McCluskey, James, Rossjohn, Jamie, de Villartay, Jean-Pierre, Moshous, Despina, Hambleton, Sophie, Latour, Sylvain, Arkwright, Peter D., Picard, Capucine, Lantz, Olivier, Engelhard, Dan, Kobayashi, Masao, Abel, Laurent, Cooper, Andrea M., Notarangelo, Luigi D., Boisson-Dupuis, Stéphanie, Puel, Anne, Sallusto, Federica, Bustamante, Jacinta, Tangye, Stuart G., and Casanova, Jean-Laurent

Published
2015

399. Whole-Genome Sequencing Identifies STAT4 as a Putative Susceptibility Gene in Classic Kaposi Sarcoma

Author

Aavikko, Mervi, Kaasinen, Eevi, Nieminen, Janne K., Byun, Minji, Donner, Iikki, Mancuso, Roberta, Ferrante, Pasquale, Clerici, Mario, Brambilla, Lucia, Tourlaki, Athanasia, Sarid, Ronit, Guttman-Yassky, Emma, Taipale, Minna, Morgunova, Ekaterina, Pekkonen, Pirita, Ojala, Päivi M., Pukkala, Eero, Casanova, Jean-Laurent, Vaarala, Outi, Vahteristo, Pia, and Aaltonen, Lauri A.

Published
2015

Catalog

Books, media, physical & digital resources
See catalog results