Search

Your search keyword '"Bousfiha, A. A."' showing total 982 results
Start Over Author "Bousfiha, A. A."
982 results on '"Bousfiha, A. A."'

202. The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies

Author

Manry, Jeremy, primary, Bastard, Paul, additional, Gervais, Adrian, additional, Voyer, Tom Le, additional, Rosain, Jérémie, additional, Philippot, Quentin, additional, Michailidis, Eleftherios, additional, Hoffmann, Hans-Heinrich, additional, Eto, Shohei, additional, Garcia-Prat, Marina, additional, Bizien, Lucy, additional, Parra-Martínez, Alba, additional, Yang, Rui, additional, Haljasmägi, Liis, additional, Migaud, Mélanie, additional, Särekannu, Karita, additional, Maslovskaja, Julia, additional, de Prost, Nicolas, additional, Tandjaoui-Lambiotte, Yacine, additional, Luyt, Charles-Edouard, additional, Amador-Borrero, Blanca, additional, Gaudet, Alexandre, additional, Poissy, Julien, additional, Morel, Pascal, additional, Richard, Pascale, additional, Cognasse, Fabrice, additional, Troya, Jesus, additional, Trouillet-Assant, Sophie, additional, Belot, Alexandre, additional, Saker, Kahina, additional, Garçon, Pierre, additional, Rivière, Jacques G., additional, Lagier, Jean-Christophe, additional, Gentile, Stéphanie, additional, Rosen, Lindsey, additional, Shaw, Elana, additional, Morio, Tomohiro, additional, Tanaka, Junko, additional, Dalmau, David, additional, Tharaux, Pierre-Louis, additional, Sene, Damien, additional, Stepanian, Alain, additional, Mégarbane, Bruno, additional, Triantafyllia, Vasiliki, additional, Fekkar, Arnaud, additional, Heath, James, additional, Franco, Jose, additional, Anaya, Juan-Manuel, additional, Solé-Violán, Jordi, additional, Imberti, Luisa, additional, Biondi, Andrea, additional, Bonfanti, Paolo, additional, Castagnoli, Riccardo, additional, Delmonte, Ottavia, additional, Zhang, Yu, additional, Snow, Andrew, additional, Holland, Steve, additional, Biggs, Catherine, additional, Moncada-Vélez, Marcela, additional, Arias, Andrés, additional, Lorenzo, Lazaro, additional, Boucherit, Soraya, additional, Anglicheau, Dany, additional, Planas, Anna, additional, Haerynck, Filomeen, additional, Duvlis, Sotirija, additional, Nussbaum, Robert, additional, Ozcelik, Tayfun, additional, Keles, Sevgi, additional, Bousfiha, Aziz, additional, Bakkouri, Jalila El, additional, Ramirez-Santana, Carolina, additional, Paul, Stéphane, additional, Pan-Hammarstrom, Qiang, additional, Hammarstrom, Lennart, additional, Dupont, Annabelle, additional, Kurolap, Alina, additional, Metz, Christine, additional, Aiuti, Alessandro, additional, Casari, Giorgio, additional, Lampasona, Vito, additional, Ciceri, Fabio, additional, Barreiros, Lucila, additional, Dominguez-Garrido, Elena, additional, Vidigal, Mateus, additional, Zatz, Mayana, additional, de Beek, Diederik van, additional, Sahanic, Sabina, additional, Tancevski, Ivan, additional, Stepanovskyy, Yurii, additional, Boyarchuk, Oksana, additional, Nukui, Yoko, additional, Tsumura, Miyuki, additional, Vidaur, Loreto, additional, Tangye, Stuart, additional, Burrel, Sonia, additional, Duffy, Darragh, additional, Quintana-Murci, Lluis, additional, Klocperk, Adam, additional, Kann, Nelli, additional, Shcherbina, Anna, additional, Lau, Yu-Lung, additional, Leung, Daniel, additional, Coulongeat, Matthieu, additional, Marlet, Julien, additional, Koning, Rutger, additional, Reyes, Luis, additional, Chauvineau-Grenier, Angélique, additional, Venet, Fabienne, additional, monneret, guillaume, additional, Nussenzweig, Michel, additional, Arrestier, Romain, additional, Boudhabhay, Idris, additional, Baris-Feldman, Hagit, additional, Hagin, David, additional, Wauters, Joost, additional, Meyts, Isabelle, additional, Dyer, Adam, additional, Kennelly, Sean, additional, Bourke, Nollaig, additional, Halwani, Rabih, additional, Sharif-Askari, Fatemeh, additional, Dorgham, Karim, additional, Sallette, Jérôme, additional, Mehlal-Sedkaoui, Souad, additional, AlKhater, Suzan, additional, Rigo-Bonnin, Raúl, additional, Morandeira, Francisco, additional, Roussel, Lucie, additional, Vinh, Donald, additional, Erikstrup, Christian, additional, Condino-Neto, Antonio, additional, Prando, Carolina, additional, Bondarenko, Anastasiia, additional, Spaan, András, additional, Gilardin, Laurent, additional, Fellay, Jacques, additional, Lyonnet, Stanislas, additional, Bilguvar, Kaya, additional, Lifton, Richard, additional, Mane, Shrikant, additional, Anderson, Mark, additional, Boisson, Bertrand, additional, Béziat, Vivien, additional, Zhang, Shen-Ying, additional, Andreakos, Evangelos, additional, Hermine, Olivier, additional, Pujol, Aurora, additional, Peterson, Pärt, additional, Mogensen, Trine Hyrup, additional, Rowen, Lee, additional, Mond, James, additional, Debette, Stéphanie, additional, deLamballerie, Xavier, additional, Burdet, Charles, additional, Bouadma, Lila, additional, Zins, Marie, additional, Soler-Palacin, Pere, additional, Colobran, Roger, additional, Gorochov, Guy, additional, Solanich, Xavier, additional, Susen, Sophie, additional, Martinez-Picado, Javier, additional, Raoult, Didier, additional, Vasse, Marc, additional, Gregersen, Peter, additional, Rodríguez-Gallego, Carlos, additional, Piemonti, Lorenzo, additional, Notarangelo, Luigi, additional, Su, Helen, additional, Kisand, Kai, additional, Okada, Satoshi, additional, Puel, Anne, additional, Jouanguy, Emmanuelle, additional, Rice, Charles, additional, Tiberghien, Pierre, additional, Zhang, Qian, additional, Casanova, Jean-Laurent, additional, Abel, Laurent, additional, and Cobat, Aurélie, additional

Published
2022
Full Text
View/download PDF

203. Manifestations dermatologiques au cours des déficits immunitaires primitifs à Dakar

Author

Ndiaye, Mame T., primary, Niang, Maguette Sylla, additional, Diop, Assane, additional, Ly, Indou Dème, additional, Diop, Khadim, additional, Seck, Birame, additional, Fall, Fatou Diassé, additional, Niang, Babacar, additional, Diadie, Saer, additional, Ndongo, Aliou, additional, Diatta, Boubacar Ahy, additional, Seck, Bougoul, additional, Deh, Amina, additional, Ndour, Niar, additional, Ndiaye, Coumba, additional, Sarr, Mamadou, additional, Diallo, Moussa, additional, Ly, Fatimata, additional, Dièye, Tandakha Ndiaye, additional, Ndiaye, Ousmane, additional, Bousfiha, Ahmed Aziz, additional, and Niang, Suzanne Oumou, additional

Published
2021
Full Text
View/download PDF

204. Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents

Author

Rui Yang, Rubén Martínez-Barricarte, Janet Markle, Franck Rapaport, Stuart G. Tangye, Mathieu Bourgey, David Langlais, Anne Puel, Aziz Belkadi, Masato Ogishi, Simon J. Pelham, Jean-Laurent Casanova, Bertrand Boisson, Cindy S. Ma, Vivien Béziat, Eman Abou Moussa, Jérémie Rosain, Laurent Abel, Tomi Lazarov, Serkan Belkaya, Fatima Ailal, Ibtihal Benhsaien, Coralie Briand, Alessandro Plebani, Romain Lévy, Frederic Geissmann, Caroline Deswarte, Andrea Guennoun, Luis R. Saraiva, Tanwir Habib, Mehdi Emam, Vassilios Lougaris, Philippe Gros, Yu Jerry Zhou, Ahmed Aziz Bousfiha, Geetha Rao, Kathryn Payne, Sylvain Breton, Ai Ing Lim, Kang Liu, Kunihiko Moriya, Danielle T. Avery, Bénédicte Neven, Nico Marr, Jacinta Bustamante, Mélanie Migaud, and James P. Di Santo

Subjects
Myeloid, Primary Immunodeficiency Diseases, Naive B cell, Adaptive Immunity, Biology, Lymphocyte Activation, Consanguinity, Immunity, medicine, Humans, Protein Isoforms, Myeloid Cells, Lymphocytes, Child, B cell, CD86, Host Microbial Interactions, Homozygote, Hematopoietic Stem Cell Transplantation, General Medicine, Acquired immune system, Immunity, Innate, Proto-Oncogene Proteins c-rel, medicine.anatomical_structure, Mutation, Immunology, Female, Genes, rel, REL, CD8, Research Article
Abstract

We studied a child with severe viral, bacterial, fungal, and parasitic diseases, who was homozygous for a loss-of-function mutation of REL, encoding c-Rel, which is selectively expressed in lymphoid and myeloid cells. The patient had low frequencies of NK, effector memory cells reexpressing CD45RA (Temra) CD8(+) T cells, memory CD4(+) T cells, including Th1 and Th1*, Tregs, and memory B cells, whereas the counts and proportions of other leukocyte subsets were normal. Functional deficits of myeloid cells included the abolition of IL-12 and IL-23 production by conventional DC1s (cDC1s) and monocytes, but not cDC2s. c-Rel was also required for induction of CD86 expression on, and thus antigen-presenting cell function of, cDCs. Functional deficits of lymphoid cells included reduced IL-2 production by naive T cells, correlating with low proliferation and survival rates and poor production of Th1, Th2, and Th17 cytokines by memory CD4(+) T cells. In naive CD4(+) T cells, c-Rel is dispensable for early IL2 induction but contributes to later phases of IL2 expression. The patient’s naive B cells displayed impaired MYC and BCL2L1 induction, compromising B cell survival and proliferation and preventing their differentiation into Ig-secreting plasmablasts. Inherited c-Rel deficiency disrupts the development and function of multiple myeloid and lymphoid cells, compromising innate and adaptive immunity to multiple infectious agents.

Published
2021
Full Text
View/download PDF

205. Pediatric Demodicosis Associated with Gain-of-Function Variant in STAT1 Presenting as Rosacea-Type Rash

Author

Ibtihal Benhsaien, Fatima Ailal, Bouchra Baghad, Ahmed Aziz Bousfiha, Fatima Zahra El Fatoiki, Mélanie Migaud, Soumiya Chiheb, and Anne Puel

Subjects
medicine.medical_specialty, business.industry, Immunology, MEDLINE, medicine.disease, Rash, Dermatology, Medical microbiology, Gain of function, Rosacea, medicine, Demodicosis, Immunology and Allergy, medicine.symptom, business
Published
2021
Full Text
View/download PDF

206. First Report on the Moroccan Registry of Primary Immunodeficiencies: 15 Years of Experience (1998–2012)

Author

Bousfiha, A. A., Jeddane, L., El Hafidi, N., Benajiba, N., Rada, N., El Bakkouri, J., Kili, A., Benmiloud, S., Benhsaien, I., Faiz, I., Maataoui, O., Aadam, Z., Aglaguel, A., Baba, L. Ait, Jouhadi, Z., Abilkassem, R., Bouskraoui, M., Hida, M., Najib, J., Alj, H. Salih, Ailal, F., and For the Moroccan Society for Primary Immunodeficiencies (MSPID)

Published
2014
Full Text
View/download PDF

207. Chronic Granulomatous Disease in Morocco: Genetic, Immunological, and Clinical Features of 12 Patients from 10 Kindreds

Author

Baba, Laila Ait, Ailal, Fatima, El Hafidi, Naima, Hubeau, Marjorie, Jabot-Hanin, Fabienne, Benajiba, Noufissa, Aadam, Zahra, Conti, Francesca, Deswarte, Caroline, Jeddane, Leila, Aglaguel, Ayoub, El Maataoui, Ouafaa, Tissent, Ahmed, Mahraoui, Chafiq, Najib, Jilali, Martinez-Barricarte, Ruben, Abel, Laurent, Habti, Norddine, Saile, Rachid, Casanova, Jean-Laurent, Bustamante, Jacinta, Salih Alj, Hanane, and Bousfiha, Ahmed Aziz

Published
2014
Full Text
View/download PDF

208. Spectrum of auto-inflammatory diseases in Morocco: a monocentric experience.

Author

Souali, Manal, Sakhi, Asmaa, Ansari, Ghita Benbrahim, Mikou, Nabiha, Bousfiha, Ahmed Aziz, and Bouayed, Kenza

Abstract

Objective Auto-inflammatory diseases (AIDs) result from mutations in genes of the innate immune system leading to periodic multisystemic inflammation. We aimed to describe the clinical, biological and molecular features (when available) and outcomes of Moroccan patients with AIDs. Methods Patient data were collected retrospectively and analysed over a 13-year period. Results Among 30 patients, 60% had FMF, 16% mevalonate kinase deficiency (MKD) and 24% other AIDs. The mean age at first consultation was 6.9 years, and the mean diagnostic delay was 3 years. Consanguinity was reported in 16 cases. IgA vasculitis was associated with 33% of FMF patients, in whom the main clinical features were fever (88.8%), abdominal pain (100%), arthralgias (88.8%) and arthritis (50%), and the most frequent mutation was M694V (66%). All FMF patients were treated with colchicine. Most MKD patients were confirmed by elevated urinary mevalonic acid levels, and four of five MKD patients received targeted therapy. Chronic recurrent osteomyelitis patients were confirmed by radiological and histological analysis. Two cases of Marshall syndrome were diagnosed according to validated criteria. A case of familial pustular psoriasis was diagnosed based on histological analysis and a patient with Muckle–Wells syndrome by clinical features. The outcome was favourable in 76%, partial in 13%, and three deaths were reported. Conclusion FMF and MKD are the most reported diseases. AIDs are probably underestimated because they are unknown to clinicians. The aim of this work is to raise awareness among paediatricians about AIDs and create a network for best practice. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

209. First characterization of LTBP3 variants in two Moroccan families with hypoplastic amelogenesis imperfecta

Author

Falah Nouara, Ghita Amalou, Aymane Bouzidi, Majida Charif, Hicham Charoute, Guy Lenaers, Samira El Arabi, Bouchra Bousfiha, and Abdelhamid Barakat

Subjects
Latent TGF-beta Binding Proteins, Otorhinolaryngology, Amelogenesis Imperfecta, Humans, Cell Biology, General Medicine, Osteochondrodysplasias, General Dentistry, Pedigree
Abstract

To decipher and improve the molecular diagnosis of Hypoplastic Amelogenesis Imperfecta in Morocco.Using whole exome sequencing, we analyzed two Moroccan families with Hypoplastic Amelogenesis Imperfecta. The 2 patients from the first family had dental anomalies and short stature syndrome, brachyolmia and nephrocalcinosis with difference in severity, while the proband of the second family had Hypoplastic Amelogenesis Imperfecta with a suspicion of brachyolmia.We identified two novel LTBP3 homozygous variants, the c.2495delT deletion (p.Phe832SerfsTer36) and the c.3716 GA (p.Cys1239Tyr) missense variant, respectively. Molecular modelling and stability analyses of the missense variant disclosed a possible destabilization of the wild-type structure.Although LTBP3 variants were related to this phenotype in various populations, we report the first LTBP3 variants in the Moroccan population, in families with Hypoplastic Amelogenesis Imperfecta.

Published
2022
Full Text
View/download PDF

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

Author

Jean-Laurent Casanova, Helen C. Su, Laurent Abel, Alessandro Aiuti, Saleh Almuhsen, Andres Augusto Arias, Paul Bastard, Catherine Biggs, Dusan Bogunovic, Bertrand Boisson, Stephanie Boisson-Dupuis, Alexandre Bolze, Anastasia Bondarenko, Aziz Bousfiha, Petter Brodin, Jacinta Bustamante, Manish Butte, Giorgio Casari, Michael Ciancanelli, Aurelie Cobat, Antonio Condino-Neto, Megan Cooper, Clifton Dalgard, Sara Espinosa, Hagit Feldman, Jacques Fellay, Jose Luis Franco, David Hagin, Yuval Itan, Emmanuelle Jouanguy, Carrie Lucas, Davood Mansouri, Isabelle Meyts, Joshua Milner, Trine Mogensen, Tomohiro Morio, Lisa Ng, Luigi D. Notarangelo, Satoshi Okada, Tayfun Ozcelik, Pere Soler Palacín, Anna Planas, Carolina Prando, Anne Puel, Aurora Pujol, Claire Redin, Laurent Renia, Jose Carlos Rodriguez Gallego, Lluis Quintana-Murci, Vanessa Sancho-Shimizu, Vijay Sankaran, Mikko R.J. Seppänen, Mohammad Shahrooei, Andrew Snow, András Spaan, Stuart Tangye, Jordi Perez Tur, Stuart Turvey, Donald C. Vinh, Horst von Bernuth, Xiaochuan Wang, Pawel Zawadzki, Qian Zhang, Shenying Zhang, Casanova, J. -L., Su, H. C., Abel, L., Aiuti, A., Almuhsen, S., Arias, A. A., Bastard, P., Biggs, C., Bogunovic, D., Boisson, B., Boisson-Dupuis, S., Bolze, A., Bondarenko, A., Bousfiha, A., Brodin, P., Bustamante, J., Butte, M., Casari, G., Ciancanelli, M., Cobat, A., Condino-Neto, A., Cooper, M., Dalgard, C., Espinosa, S., Feldman, H., Fellay, J., Franco, J. L., Hagin, D., Itan, Y., Jouanguy, E., Lucas, C., Mansouri, D., Meyts, I., Milner, J., Mogensen, T., Morio, T., Ng, L., Notarangelo, L. D., Okada, S., Ozcelik, T., Palacin, P. S., Planas, A., Prando, C., Puel, A., Pujol, A., Redin, C., Renia, L., Rodriguez Gallego, J. C., Quintana-Murci, L., Sancho-Shimizu, V., Sankaran, V., Seppanen, M. R. J., Shahrooei, M., Snow, A., Spaan, A., Tangye, S., Tur, J. P., Turvey, S., Vinh, D. C., von Bernuth, H., Wang, X., Zawadzki, P., Zhang, Q., Zhang, S., UKRI Future Leader's Fellowship, and Özçelik, Tayfun

Subjects
Pneumonia, Viral, Disease, Biology, Infections, Virus, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Betacoronavirus, 0302 clinical medicine, Pandemic, Genetic variation, medicine, Humans, Genetic Predisposition to Disease, COVID Human Genetic Effort, Pandemics, 11 Medical and Health Sciences, Genetic Association Studies, 030304 developmental biology, Disease Resistance, 0303 health sciences, Viral Epidemiology, Genome, Human, SARS-CoV-2, Age Factors, Genetic Diseases, Inborn, COVID-19, Genetic Variation, 06 Biological Sciences, biology.organism_classification, medicine.disease, Human genetics, Immunology, Host-Pathogen Interactions, Coronavirus Infections, Pneumonia (non-human), 030217 neurology & neurosurgery, Developmental Biology
Abstract

SARS-CoV-2 infection displays immense inter-individual clinical variability, ranging from silent infection to lethal disease. The role of human genetics in determining clinical response to the virus remains unclear. Studies of outliers—individuals remaining uninfected despite viral exposure and healthy young patients with life-threatening disease—present a unique opportunity to reveal human genetic determinants of infection and disease.

Published
2020
Full Text
View/download PDF

211. Autoantibodies neutralizing type I IFNs are present in

Author

Paul, Bastard, Adrian, Gervais, Tom, Le Voyer, Jérémie, Rosain, Quentin, Philippot, Jérémy, Manry, Eleftherios, Michailidis, Hans-Heinrich, Hoffmann, Shohei, Eto, Marina, Garcia-Prat, Lucy, Bizien, Alba, Parra-Martínez, Rui, Yang, Liis, Haljasmägi, Mélanie, Migaud, Karita, Särekannu, Julia, Maslovskaja, Nicolas, de Prost, Yacine, Tandjaoui-Lambiotte, Charles-Edouard, Luyt, Blanca, Amador-Borrero, Alexandre, Gaudet, Julien, Poissy, Pascal, Morel, Pascale, Richard, Fabrice, Cognasse, Jesus, Troya, Sophie, Trouillet-Assant, Alexandre, Belot, Kahina, Saker, Pierre, Garçon, Jacques G, Rivière, Jean-Christophe, Lagier, Stéphanie, Gentile, Lindsey B, Rosen, Elana, Shaw, Tomohiro, Morio, Junko, Tanaka, David, Dalmau, Pierre-Louis, Tharaux, Damien, Sene, Alain, Stepanian, Bruno, Megarbane, Vasiliki, Triantafyllia, Arnaud, Fekkar, James R, Heath, José Luis, Franco, Juan-Manuel, Anaya, Jordi, Solé-Violán, Luisa, Imberti, Andrea, Biondi, Paolo, Bonfanti, Riccardo, Castagnoli, Ottavia M, Delmonte, Yu, Zhang, Andrew L, Snow, Steven M, Holland, Catherine, Biggs, Marcela, Moncada-Vélez, Andrés Augusto, Arias, Lazaro, Lorenzo, Soraya, Boucherit, Boubacar, Coulibaly, Dany, Anglicheau, Anna M, Planas, Filomeen, Haerynck, Sotirija, Duvlis, Robert L, Nussbaum, Tayfun, Ozcelik, Sevgi, Keles, Ahmed A, Bousfiha, Jalila, El Bakkouri, Carolina, Ramirez-Santana, Stéphane, Paul, Qiang, Pan-Hammarström, Lennart, Hammarström, Annabelle, Dupont, Alina, Kurolap, Christine N, Metz, Alessandro, Aiuti, Giorgio, Casari, Vito, Lampasona, Fabio, Ciceri, Lucila A, Barreiros, Elena, Dominguez-Garrido, Mateus, Vidigal, Mayana, Zatz, Diederik, van de Beek, Sabina, Sahanic, Ivan, Tancevski, Yurii, Stepanovskyy, Oksana, Boyarchuk, Yoko, Nukui, Miyuki, Tsumura, Loreto, Vidaur, Stuart G, Tangye, Sonia, Burrel, Darragh, Duffy, Lluis, Quintana-Murci, Adam, Klocperk, Nelli Y, Kann, Anna, Shcherbina, Yu-Lung, Lau, Daniel, Leung, Matthieu, Coulongeat, Julien, Marlet, Rutger, Koning, Luis Felipe, Reyes, Angélique, Chauvineau-Grenier, Fabienne, Venet, Guillaume, Monneret, Michel C, Nussenzweig, Romain, Arrestier, Idris, Boudhabhay, Hagit, Baris-Feldman, David, Hagin, Joost, Wauters, Isabelle, Meyts, Adam H, Dyer, Sean P, Kennelly, Nollaig M, Bourke, Rabih, Halwani, Narjes Saheb, Sharif-Askari, Karim, Dorgham, Jérome, Sallette, Souad Mehlal, Sedkaoui, Suzan, AlKhater, Raúl, Rigo-Bonnin, Francisco, Morandeira, Lucie, Roussel, Donald C, Vinh, Sisse Rye, Ostrowski, Antonio, Condino-Neto, Carolina, Prando, Anastasiia, Bonradenko, András N, Spaan, Laurent, Gilardin, Jacques, Fellay, Stanislas, Lyonnet, Kaya, Bilguvar, Richard P, Lifton, Shrikant, Mane, Mark S, Anderson, Bertrand, Boisson, Vivien, Béziat, Shen-Ying, Zhang, Evangelos, Vandreakos, Olivier, Hermine, Aurora, Pujol, Pärt, Peterson, Trine H, Mogensen, Lee, Rowen, James, Mond, Stéphanie, Debette, Xavier, de Lamballerie, Xavier, Duval, France, Mentré, Marie, Zins, Pere, Soler-Palacin, Roger, Colobran, Guy, Gorochov, Xavier, Solanich, Sophie, Susen, Javier, Martinez-Picado, Didier, Raoult, Marc, Vasse, Peter K, Gregersen, Lorenzo, Piemonti, Carlos, Rodríguez-Gallego, Luigi D, Notarangelo, Helen C, Su, Kai, Kisand, Satoshi, Okada, Anne, Puel, Emmanuelle, Jouanguy, Charles M, Rice, Pierre, Tiberghien, Qian, Zhang, Aurélie, Cobat, Laurent, Abel, and Hind, Hamzeh-Cognasse

Subjects
Adult, Aged, 80 and over, Adolescent, Critical Illness, Infant, Newborn, COVID-19, Infant, Interferon-alpha, Middle Aged, Antibodies, Neutralizing, Young Adult, Case-Control Studies, Child, Preschool, Immunoglobulin G, Interferon Type I, Humans, Child, Aged, Autoantibodies
Abstract

Circulating autoantibodies (auto-Abs) neutralizing high concentrations (10 ng/mL, in plasma diluted 1 to 10) of IFN-α and/or -ω are found in about 10% of patients with critical COVID-19 pneumonia, but not in subjects with asymptomatic infections. We detect auto-Abs neutralizing 100-fold lower, more physiological, concentrations of IFN-α and/or -ω (100 pg/mL, in 1/10 dilutions of plasma) in 13.6% of 3,595 patients with critical COVID-19, including 21% of 374 patients80 years, and 6.5% of 522 patients with severe COVID-19. These antibodies are also detected in 18% of the 1,124 deceased patients (aged 20 days-99 years; mean: 70 years). Moreover, another 1.3% of patients with critical COVID-19 and 0.9% of the deceased patients have auto-Abs neutralizing high concentrations of IFN-β. We also show, in a sample of 34,159 uninfected subjects from the general population, that auto-Abs neutralizing high concentrations of IFN-α and/or -ω are present in 0.18% of individuals between 18 and 69 years, 1.1% between 70 and 79 years, and 3.4%80 years. Moreover, the proportion of subjects carrying auto-Abs neutralizing lower concentrations is greater in a subsample of 10,778 uninfected individuals: 1% of individuals70 years, 2.3% between 70 and 80 years, and 6.3%80 years. By contrast, auto-Abs neutralizing IFN-β do not become more frequent with age. Auto-Abs neutralizing type I IFNs predate SARS-CoV-2 infection and sharply increase in prevalence after the age of 70 years. They account for about 20% of both critical COVID-19 cases in the over-80s, and total fatal COVID-19 cases.

Published
2021

212. SARS-CoV-2-related MIS-C:A key to the viral and genetic causes of Kawasaki disease?

Author

Sancho-Shimizu, Vanessa, Brodin, Petter, Cobat, Aurélie, Biggs, Catherine M., Toubiana, Julie, Lucas, Carrie L., Henrickson, Sarah E., Belot, Alexandre, Haddad, Elie, Beland, Kathie, Pujol, Aurora, Schlüter, Agatha, Planas-Serra, Laura, Aguilera-Albesa, Sergio, Valencia-Ramos, Juan, Rodríguez-Palmero, Agustí, Gut, Marta, Rivière, Jacques G., Colobran, Roger, Soler-Palacin, Pere, Rodriguez-Gallego, Carlos, Perez De Diego, Rebeca, Flores, Carlos, Alsina, Laia, Blazquez-Gamero, Daniel, Jordan, Iolanda, Keles, Sevgi, Emiroglu, Melike, Akcan, Ozge Metin, Alkan, Gulsum, Aytekin, Selma Erol, Gul, Yahya, Tüter Öz, Şadiye Kübra, Bozdemir, Sefika Elmas, Bayhan, Gulsum Iclal, Yüksek, Saliha Kanık, Parlakay, Aslınur Özkaya, Gülhan, Belgin, Yahşi, Aysun, Kilic, Ahmet Osman, Karbuz, Adem, Erdeniz, Emine Hafize, Özkan, Esra Akyüz, Orbak, Zerrin, Aydemir, Şehnaz, Celik, Jale Bengi, Kandemir, Bahar, Aytekin, Gökhan, Kapakli, Hasan, Yarar, Volkan, Yosunkaya, Alper, Vatansev, Hulya, Aytekin, Caner, Torun, Selda Hancerli, Nepesov, Serdar, Coskuner, Taner, Sözeri, Betül, Demirkol, Yasemin Kendir, Kasapcopur, Ozgur, Yıldız, Mehmet, Sevketoglu, Esra, Hatipoğlu, Nevin, Özçelik, Tayfun, Yesilbas, Osman, Gayretli Aydin, Zeynep Gökçe, Sediva, Anna, Klocperk, Adam, Bloomfield, Marketa, Meyts, Isabelle, Delafontaine, Selket, Haerynck, Filomeen, Hoste, Levi, Shahrooei, Mohammad, Marque, Laura, Neves, João Farela, Novelli, Giuseppe, Novelli, Antonio, Aiuti, Alessandro, Casari, Giorgio, Bousfiha, Amed Aziz, Almuhsen, Saleh Zaid, Sobh, Ali, Gagro, Alenka, Bajolle, Fanny, Bonnet, Damien, Lebon, Pierre, Lei, Weite, Lee, Danyel, Seeleuthner, Yoann, Zhang, Peng, Maglorius, Majistor, Philippot, Quentin, Pelham, Simon, Bastard, Paul, Zhang, Qian, Jouanguy, Emmanuelle, Puel, Anne, Herberg, Jethro, Kuijpers, Taco W, Bellos, Evangelos, Kaforou, Myrsini, Menikou, Stephanie, Pan-Hammarström, Qiang, Hammarström, Lennart, Abolhassani, Hassan, Bryceson, Yenan, Condino-Neto, Antonio, Prando, Carolina, Bando, Silvia Yumi, Cavalcanti, Andre, Fellay, Jacques, Blanchard-Hohner, Giradine, Mansouri, Davood, Mahmoudi, Shima, Boyarchuk, Oksana, Volokha, Alla, Bondarenko, Anastasiia, Stepanovskiy, Yuriy, Mogensen, Trine, van de Beek, Diederik, Andreakos, Evangelos, Papadaki, Maria, Abou Tayoun, Ahmad, Halwani, Rabih, Al-Mulla, Fahd, Franco, José Luis, Lau, Yu-Lung, Kwan, Mike, Imai, Kohsuke, Okada, Satoshi, Bolze, Alexandre, Butte, Manish J., Hsieh, Elena, Drolet, Beth A, Arkin, Lisa, Itan, Yuval, Maniatis, Tom, Arditi, Moshe, Cooper, Megan, Schmitt, Erica, Chakravorty, Samya, Anderson, Mark S., Su, Helen C., Notarangelo, Luigi D., MIS-C@CHGE, [missing], Tangye, Stuart G., Milner, Joshua D., Levin, Michael, Abel, Laurent, Bogunovic, Dusan, Casanova, Jean-Laurent, Zhang, Shen-Ying, Human genetics of infectious diseases: Complex predisposition (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - 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), 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), Biodiversité et Epidémiologie des Bactéries pathogènes - Biodiversity and Epidemiology of Bacterial Pathogens, Institut Pasteur [Paris] (IP), 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), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Service de cardiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Cité (UPCité), Human genetics of infectious diseases : Mendelian predisposition (Equipe Inserm U1163), Funded by the Howard Hughes Medical Institute, the Rockefeller University, the St. Giles Foundation, the National Institutes of Health (R01AI088364 to J.-L. Casanova and S.-Y. Zhang, R01AI148963, R01AI151029, and R01AI150300 to D. Bogunovic, K08AI135091 to S.E. Henrickson, R21AI144315-02S1 to C.L. Lucas), the National Center for Advancing Translational Sciences, National Institutes of Health Clinical and Translational Science Award program (UL1 TR001866), the Yale Center for Mendelian Genomics and the GSP Coordinating Center funded by the National Human Genome Research Institute (UM1HG006504 and U24HG008956), Institut National de la Santé et de la Recherche Médicale and Université de Paris, the French National Research Agency (ANR) Résilience-Covid-19 grant GenMIS-C, the ANR '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 ANR project AABIFNCOV (ANR-20-CO11-0001), the French Foundation for Medical Research (EQU201903007798), the French Foundation for Medical Research and ANR GENCOVID project, the ANRSCOV05 project, the Square Foundation, Grandir - Fonds de solidarité pour l’enfance, the Fondation du Souffle, the SCOR Corporate Foundation for Science, UK Research and Innovation Future Leader’s Fellowship (MR/S032304/1), the NIHR Imperial Biomedical Research Centre at Imperial College Healthcare NHS Trust (70931), the Burroughs Wellcome Fund Career Awards for Medical Scientists, the Clinical Immunology Society, the American Academy of Allergy Asthma and Immunology, the Michael Smith Foundation for Health Research, the National Health and Medical Research Council of Australia, and the University of New South Wales Sydney COVID Rapid Response Initiative (to S.G. Tangye)., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), 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), Imperial College BRC, Imperial College Healthcare NHS Trust- BRC Funding, and UKRI Future Leader's Fellowship

Subjects
0301 basic medicine, viruses, Systemic Inflammatory Response Syndrome/epidemiology, Genome-wide association study, CHILDREN, COVID-19 (Malaltia), Pathogenesis, 0302 clinical medicine, hemic and lymphatic diseases, INFECTION, Medicine and Health Sciences, Immunology and Allergy, 030212 general & internal medicine, skin and connective tissue diseases, Child, 11 Medical and Health Sciences, COVID-19/epidemiology, Pediatria, Malaltia de Kawasaki, Systemic Inflammatory Response Syndrome, Settore MED/03, Inflammation Mediators/blood, Perspective, Cytokines, SHOCK, medicine.symptom, Inflammation Mediators, Lymphohistiocytosis, Hemophagocytic/genetics, congenital, hereditary, and neonatal diseases and abnormalities, HUMAN CORONAVIRUS NL63, SUSCEPTIBILITY LOCI, MULTISYSTEM INFLAMMATORY SYNDROME, Inflammation/etiology, Immunology, Innate Immunity and Inflammation, Inflammation, Biology, Mucocutaneous Lymph Node Syndrome, Cytokines/blood, Models, Biological, Lymphohistiocytosis, Hemophagocytic, SARS-CoV-2/immunology, 03 medical and health sciences, Immune system, Immunity, CORONARY ANEURYSMS, medicine, otorhinolaryngologic diseases, Immunodeficiency, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, Pandemics, SARS-CoV-2, Mucocutaneous Lymph Node Syndrome/epidemiology, COVID-19, biochemical phenomena, metabolism, and nutrition, medicine.disease, Systemic inflammatory response syndrome, 030104 developmental biology, Etiology, Kawasaki disease, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, PIMS-TS, Biomarkers, Human Disease Genetics, Genètica, Biomarkers/blood, Genome-Wide Association Study
Abstract

SARS-CoV-2 is the trigger of MIS-C, which suggests that other viruses may trigger different forms of Kawasaki disease. The discovery of inborn errors of immunity underlying MIS-C would facilitate that of inborn errors of immunity to viruses underlying Kawasaki disease., Multisystem inflammatory syndrome in children (MIS-C) emerged in April 2020 in communities with high COVID-19 rates. This new condition is heterogenous but resembles Kawasaki disease (KD), a well-known but poorly understood and clinically heterogenous pediatric inflammatory condition for which weak associations have been found with a myriad of viral illnesses. Epidemiological data clearly indicate that SARS-CoV-2 is the trigger for MIS-C, which typically occurs about 1 mo after infection. These findings support the hypothesis of viral triggers for the various forms of classic KD. We further suggest that rare inborn errors of immunity (IEIs) altering the immune response to SARS-CoV-2 may underlie the pathogenesis of MIS-C in some children. The discovery of monogenic IEIs underlying MIS-C would shed light on its pathogenesis, paving the way for a new genetic approach to classic KD, revisited as a heterogeneous collection of IEIs to viruses.

Published
2021
Full Text
View/download PDF

213. High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency

Author

Ibtihal Benhsaien, Bernhard Fleckenstein, Carys A. Croft, Stuart G. Tangye, Karim Dorgham, Rui Yang, Aziz Bousfiha, Laurent Abel, Laurie H. Glimcher, Jérémie Rosain, Guy Gorochov, Jing Han, Marc Weisshaar, Jean-Laurent Casanova, Paul Bastard, Federico Mele, James P. Di Santo, Federica Sallusto, Cindy S. Ma, Jacinta Bustamante, Samuele Notarbartolo, and Anne Puel

Subjects
0301 basic medicine, Male, medicine.medical_treatment, Receptors, Antigen, T-Cell, alpha-beta, Immunology, Mutant, Stimulation, Autoimmunity, Th2 cytokines, Article, Epigenesis, Genetic, 03 medical and health sciences, Epitopes, 0302 clinical medicine, Th2 Cells, Antigen, medicine, Respiratory Hypersensitivity, Immunology and Allergy, Eosinophilia, Immunodeficiency, Animals, Humans, Interleukin 5, business.industry, Sequence Analysis, RNA, Pneumonia, respiratory system, Phenotype, 3. Good health, Pedigree, Mice, Inbred C57BL, 030104 developmental biology, Cytokine, 030220 oncology & carcinogenesis, Mutation, Cytokines, Female, medicine.symptom, Single-Cell Analysis, business, T-Box Domain Proteins, Immunologic Memory, Human Disease Genetics
Abstract

This study describes the multiple facets and molecular basis of excessive Th2 cytokine production by CD4+ αβ T lymphocytes as a possible mechanism underlying persistent upper airway inflammation and blood eosinophilia in a patient with inherited complete T-bet deficiency., We have described a child suffering from Mendelian susceptibility to mycobacterial disease (MSMD) due to autosomal recessive, complete T-bet deficiency, which impairs IFN-γ production by innate and innate-like adaptive, but not mycobacterial-reactive purely adaptive, lymphocytes. Here, we explore the persistent upper airway inflammation (UAI) and blood eosinophilia of this patient. Unlike wild-type (WT) T-bet, the mutant form of T-bet from this patient did not inhibit the production of Th2 cytokines, including IL-4, IL-5, IL-9, and IL-13, when overexpressed in T helper 2 (Th2) cells. Moreover, Herpesvirus saimiri–immortalized T cells from the patient produced abnormally large amounts of Th2 cytokines, and the patient had markedly high plasma IL-5 and IL-13 concentrations. Finally, the patient’s CD4+ αβ T cells produced most of the Th2 cytokines in response to chronic stimulation, regardless of their antigen specificities, a phenotype reversed by the expression of WT T-bet. T-bet deficiency thus underlies the excessive production of Th2 cytokines, particularly IL-5 and IL-13, by CD4+ αβ T cells, causing blood eosinophilia and UAI. The MSMD of this patient results from defective IFN-γ production by innate and innate-like adaptive lymphocytes, whereas the UAI and eosinophilia result from excessive Th2 cytokine production by adaptive CD4+ αβ T lymphocytes., Graphical Abstract

Published
2021

214. Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

Author

Capucine Picard, Joëlle Khourieh, Jane Peake, Antoine Guérin, Bertrand Boisson, Aziz Bousfiha, Jamila El Baghdadi, David Hum, Takaki Asano, Jean-Laurent Casanova, Andrew Williams, Simon J. Pelham, Stéphanie Boisson-Dupuis, Peng Zhang, Maya Chrabieh, Luke Droney, Wei-Te Lei, Ilham Fadil, Ji Eun Han, András N Spaan, Qian Zhang, Nevin Hatipoğlu, Franck Rapaport, Anne Puel, Tanwir Habib, Nico Marr, Fatih Celmeli, Vivien Béziat, Joseph Mackie, Biman Saikia, Stuart G. Tangye, Laurent Abel, Tayfun Ozcelik, Juan Li, Sudhir Gupta, Luckshman Ganeshanandan, and Özçelik, Tayfun

Subjects
Male, Infectious disease and host defense, Dominant negative, Innate immunity and inflammation, 0302 clinical medicine, Immunology and Allergy, 10. No inequality, STAT3, Child, Frameshift Mutation, Dominance (genetics), Genes, Dominant, Translation reinitiation, Genetics, 0303 health sciences, education.field_of_study, Middle Aged, 3. Good health, Pedigree, Codon, Nonsense, 030220 oncology & carcinogenesis, Child, Preschool, Autosomal dominant hyper-IgE syndrome, Female, Haploinsufficiency, Job Syndrome, Gene isoform, Adult, STAT3 Transcription Factor, Adolescent, Immunology, Population, Innate Immunity and Inflammation, Biology, Article, Infectious Disease and Host Defense, Evolution, Molecular, 03 medical and health sciences, Immunodeficiency, Humans, Family, RNA, Messenger, education, Alleles, 030304 developmental biology, Human disease genetics, Infant, Newborn, Infant, Alternative Splicing, Genetics, Population, HEK293 Cells, Protein Biosynthesis, Mutation, biology.protein, Human Disease Genetics
Abstract

Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) are heterozygous for rare STAT3 variants. The mechanism of dominance was recently questioned. The authors show that both in-frame and out-of-frame STAT3 variants underlie AD-HIES by negative dominance and not haploinsufficiency., Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare heterozygous STAT3 variants. Only six of the 135 in-frame variants reported have been experimentally shown to be dominant negative (DN), and it has been recently suggested that eight out-of-frame variants operate by haploinsufficiency. We experimentally tested these 143 variants, 7 novel out-of-frame variants found in HIES patients, and other STAT3 variants from the general population. Strikingly, all 15 out-of-frame variants were DN via their encoded (1) truncated proteins, (2) neoproteins generated from a translation reinitiation codon, and (3) isoforms from alternative transcripts or a combination thereof. Moreover, 128 of the 135 in-frame variants (95%) were also DN. The patients carrying the seven non-DN STAT3 in-frame variants have not been studied for other genetic etiologies. Finally, none of the variants from the general population tested, including an out-of-frame variant, were DN. Overall, our findings show that heterozygous STAT3 variants, whether in or out of frame, underlie AD-HIES through negative dominance rather than haploinsufficiency., Graphical Abstract

Published
2021

216. Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents

Author

Lévy, Romain, primary, Langlais, David, additional, Béziat, Vivien, additional, Rapaport, Franck, additional, Rao, Geetha, additional, Lazarov, Tomi, additional, Bourgey, Mathieu, additional, Zhou, Yu J., additional, Briand, Coralie, additional, Moriya, Kunihiko, additional, Ailal, Fatima, additional, Avery, Danielle T., additional, Markle, Janet, additional, Lim, Ai Ing, additional, Ogishi, Masato, additional, Yang, Rui, additional, Pelham, Simon, additional, Emam, Mehdi, additional, Migaud, Mélanie, additional, Deswarte, Caroline, additional, Habib, Tanwir, additional, Saraiva, Luis R., additional, Moussa, Eman A., additional, Guennoun, Andrea, additional, Boisson, Bertrand, additional, Belkaya, Serkan, additional, Martinez-Barricarte, Ruben, additional, Rosain, Jérémie, additional, Belkadi, Aziz, additional, Breton, Sylvain, additional, Payne, Kathryn, additional, Benhsaien, Ibtihal, additional, Plebani, Alessandro, additional, Lougaris, Vassilios, additional, Di Santo, James P., additional, Neven, Bénédicte, additional, Abel, Laurent, additional, Ma, Cindy S., additional, Bousfiha, Ahmed Aziz, additional, Marr, Nico, additional, Bustamante, Jacinta, additional, Liu, Kang, additional, Gros, Philippe, additional, Geissmann, Frédéric, additional, Tangye, Stuart G., additional, Casanova, Jean-Laurent, additional, and Puel, Anne, additional

Published
2021
Full Text
View/download PDF

217. Pemphigoïde bulleuse post-vaccinale du nourrisson

Author

A. Bousfiha, S. Chiheb, H. Dahbi Skalli, Farida Marnissi, F.Z. Elfetoiki, Fouzia Hali, and I. Benslimane Kamal

Subjects
medicine.medical_specialty, business.industry, Post vaccination, medicine, Dermatology, Bullous pemphigoid, medicine.disease, business
Published
2020
Full Text
View/download PDF

220. Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families

Author

Yu-Lung Lau, Najla Mekki, Lamia Gargouri, Imen Ben-Mustapha, Rachida Boukari, Abdelhamid Barakat, Mohamed Bejaoui, Zahra Aadam, Jouda Gamara, Koon Wing Chan, Nabil BelHadj-Hmida, Aziz Bousfiha, Beya Larguèche, Houcine Ben Ameur, Jing Yang, Fethi Mellouli, Amel Nedri, Nadia Kechout, Mohamed-Ridha Barbouche, and Meriem Ben-Ali

Subjects
Male, 0301 basic medicine, Candidate gene, Immunology, Nonsense mutation, Consanguinity, Biology, Gene mutation, medicine.disease_cause, Polymorphism, Single Nucleotide, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Agammaglobulinemia, Exome Sequencing, medicine, Humans, Immunology and Allergy, Exome, Exome sequencing, Sanger sequencing, Genetics, Mutation, Homozygote, Infant, Newborn, Infant, Sequence Analysis, DNA, CD79B, Pedigree, Phenotype, 030104 developmental biology, Codon, Nonsense, Child, Preschool, North America, symbols, Female, 030215 immunology
Abstract

Autosomal recessive agammaglobulinemia (ARA) is a primary immunodeficiency characterized by absent peripheral B cells, severe hypogammaglobulinemia, and absent BTK gene mutations. In ARA, mutations occur in genes encoding the pre-B cell receptor (pre-BCR) or downstream signaling proteins. In this work, we used candidate gene and whole-exome sequencing to investigate the molecular basis of ARA in 6 patients from 4 consanguineous North-African families. Sanger sequencing of candidate genes encoding the pre-BCR components (ΙGΗΜ, CD79A, CD79B, IGLL1, and VPREB1) was initially performed and determined the genetic defect in five patients. Two novel mutations in IGHM (p.Val378Alafs*1 and p.Ile184Serfs*21) were identified in three patients from two unrelated kindred and a novel nonsense mutation was identified in CD79A (p.Trp66*) in two siblings from a third kindred. Whole-exome sequencing (WES) was performed on the sixth patient who harbored a homozygous stop mutation at position 407 in the RAG2 gene (p.Glu407*). We concluded that conventional gene sequencing, especially when multiple genes are involved in the defect as is the case in ARA, is costly and time-consuming, resulting in delayed diagnosis that contributes to increased morbidity and mortality. In addition, it fails to identify the involvement of novel and unsuspected gene defects when the phenotype of the patients is atypical. WES has the potential to provide a rapid and more accurate genetic diagnosis in ARA, which is crucial for the treatment of the patients.

Published
2019
Full Text
View/download PDF

222. An electrochemical process to prepare and recycle biobased ionic liquids

Author

Antoine Fournier, Mahado Said Ahmed, Jihane Bousfiha, Guillaume de Robillard, Jacques Andrieu, and Charles H. Devillers

Subjects
Materials science, 010405 organic chemistry, Oxalic acid, Ionic bonding, Disproportionation, 010402 general chemistry, Electrosynthesis, Electrochemistry, 01 natural sciences, Pollution, 0104 chemical sciences, chemistry.chemical_compound, chemistry, Chemical engineering, Scientific method, Ionic liquid, Environmental Chemistry, Glyoxal
Abstract

This manuscript describes the first electrosynthesis of biobased ionic liquids from L-valine, oxalic acid and glyoxal, which is energy-efficient, does not emit toxic waste and avoids the formation of inorganic waste. These ionic liquids were then used in the development of our electro-recycling process. While their recycling yields are still moderated due to recombination and disproportionation reactions, this unprecedented recycling technology is very promising in terms of environmental and economic gains. Indeed, it has a high energy efficiency, requires low cost equipment, allows a strong decrease of the price of such ionic solvents, limits the use of non-renewable resources and solves the end-of-life problem of dirty biobased ionic liquids.

Published
2019
Full Text
View/download PDF

223. Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness

Author

Amina Bakhchane, Khalid Snoussi, Crystel Bonnet, Christine Petit, Amale Bousfiha, Hicham Charoute, Zied Riahi, Abdelhamid Barakat, and Lamiae Elkhattabi

Subjects
Genetics, 0303 health sciences, Daughter, Hearing loss, Sema domain, media_common.quotation_subject, 030305 genetics & heredity, Mutant, Biology, 3. Good health, 03 medical and health sciences, Mutation (genetic algorithm), otorhinolaryngologic diseases, medicine, Mesenchymal–epithelial transition, Missense mutation, medicine.symptom, Gene, Genetics (clinical), 030304 developmental biology, media_common
Abstract

Mutations in the mesenchymal epithelial transition factor (MET) gene are frequently associated with multiple human cancers but can also lead to human non-syndromic autosomal recessive deafness (DFNB97). In the present study, we identified a novel homozygous missense mutation in the METgene causing a non-syndromic hearing impairment DFNB97 form. Whole-exome sequencing was performed to determine the genetic causes of hearing loss in a Moroccan consanguineous family with an affected daughter. The structural analysis of native and mutant in the SEMA domain of the MET receptor was investigated using a molecular dynamics simulation (MDS) approach. We identified a novel pathogenic homozygous c.948A>G (p.Ile316Met) mutation in the MET gene in one deaf Moroccan young girl carrying a total bilateral non-syndromic hearing impairment. The results of the MDS approach show that an Ile316Met mutation in the SEMA domain leads to protein flexibility loss. This may produce a major impact on the structural conformation of the MET receptor, which also affects the function and binding site of the receptor. This is the first time that a mutation in the MET gene is described in a Moroccan family. Moreover, this study reports the second family in the world associating deafness and mutation in the MET gene.

Published
2019
Full Text
View/download PDF

224. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

Author

Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, El-Baghdadi, Jamila, Camcioglu, Yildiz, Parvaneh, Nima, El Azbaoui, Safaa, Agader, Aomar, Hassani, Amal, El Hafidi, Naima, Mrani, Nidal Alaoui, Jouhadi, Zineb, Ailal, Fatima, Najib, Jilali, Reisli, Ismail, Zamani, Adil, Yosunkaya, Sebnem, Gulle-Girit, Saniye, Yildiran, Alisan, Cipe, Funda Erol, Torun, Selda Hancerli, Metin, Ayse, Atikan, Basak Yildiz, Hatipoglu, Nevin, Aydogmus, Cigdem, Kilic, Sara Sebnem, Dogu, Figen, Karaca, Neslihan, Aksu, Guzide, Kutukculer, Necil, Keser-Emiroglu, Melike, Somer, Ayper, Tanir, Gonul, Aytekin, Caner, Adimi, Parisa, Mahdaviani, Seyed Alireza, Mamishi, Setareh, Bousfiha, Aziz, Sanal, Ozden, Mansouri, Davood, Casanova, Jean-Laurent, and Abel, Laurent

Published
2015
Full Text
View/download PDF

225. Érythrodermie néonatale: ne pas méconnaitre un déficit immunitaire

Author

Aziza El Ouali, Yousra El Boussaadni, Fatima Ailal, Ahmed Aziz Bousfiha, Siham Dikhaye, and Noufissa Benajiba

Subjects
erythrodermie, nouveau né, syndrome d´omenn, Medicine
Abstract

Les érythrodermies du nouveau-né sont des tableaux rares, d'évolutions chroniques et potentiellement mortelles. Leurs étiologies sont diverses et variées dominées par les ichtyoses, le déficit immunitaire primaire, ou plus exceptionnellement le psoriasis sévère, les maladies métaboliques, la dermatite atopique ou une cause infectieuse. La détermination rapide de la cause sous-jacente est cruciale pour une meilleure prise en charge. Cependant, le diagnostic constitue un défi pour le clinicien et est souvent retardé en raison de la nature non spécifique des signes cliniques et histopathologiques. L'objectif de notre travail est de rappeler aux praticiens une étiologie grave de l'érythrodermie néonatale: le déficit immunitaire ceci à travers l'observation d'un nourrisson suivi pour une érythrodermie évoluant depuis la naissance, hospitalisé pour une fièvre prolongée, et chez qui un interrogatoire minutieux, un examen clinique soigneux, ainsi que l'évolution ont pu redresser le diagnostic vers un déficit immunitaire.

Published
2014
Full Text
View/download PDF

226. Le déficit immunitaire humoral: mieux le connaître pour mieux le prendre en charge

Author

Jalila El Bakkouri, Zahra Aadam, Fatima Ailal, Hanane Salih Alj, and Ahmed Aziz Bousfiha

Subjects
déficit immunitaire humoral, agammaglobulinémie, déficit immunitaire commun variable, déficit en iga, Medicine
Abstract

Les déficits immunitaires humoraux (DIH) sont des maladies hétérogènes allant des formes asymptomatiques rencontrés lors des déficits sélectifs en immunoglobulines A (IgA) et en sous-classes d'IgG aux formes graves des agammaglobulinémies congénitales.Les patients atteints de DIH présentent souvent des infections ORL ou des voies respiratoires récidivantes ou sévères. Ces patients peuvent présenter un certain nombre de complications non infectieuses, telles que des manifestations auto-immunes et des entéropathies, qui pourraient être le seul symptôme clinique révélateur. Les formes sévères des DIH sont facilement diagnostiquées grâce au dosage des IgG totaux, des IgA et des IgM. La thérapie substitutive par les immunoglobulines reste le traitement de choix chez ces patients.

Published
2014
Full Text
View/download PDF

227. The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Author

Troy R. Torgerson, Tomohiro Morio, Kathleen E. Sullivan, Christoph Klein, Waleed Al-Herz, Helen C. Su, Eric Oksenhendler, Isabelle Meyts, Stuart G. Tangye, Capucine Picard, José Luis Franco, Steven M. Holland, Jennifer M. Puck, Mikko Seppänen, Charlotte Cunningham-Rundles, Raz Somech, Anne Puel, Aziz Bousfiha, Children's Hospital, HUS Children and Adolescents, Clinicum, University of Helsinki, and Helsinki University Hospital Area

Subjects
medicine.medical_specialty, Genotype, Primary Immunodeficiency Diseases, Immunology, Inheritance Patterns, Expert committee, Diagnosis, Differential, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Immunity, Risk Factors, immune dysregulation, Interim, Diagnosis, Genetics, medicine, 2.1 Biological and endogenous factors, Immunology and Allergy, Humans, Medical physics, Genetic Predisposition to Disease, Public Health Surveillance, Aetiology, Alleles, Genetic Association Studies, 030304 developmental biology, Pediatric, 0303 health sciences, business.industry, Prevention, Inflammatory and immune system, Genetic variants, COVID-19, Disease Management, Inborn errors of immunity, 3. Good health, Orphan Drug, Phenotype, 3121 General medicine, internal medicine and other clinical medicine, Differential, Original Article, autoinflammatory disorders, business, Autoinflammatory Disorders, 030215 immunology, primary immunodeficiencies
Abstract

The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects. ispartof: JOURNAL OF CLINICAL IMMUNOLOGY vol:41 issue:3 pages:666-679 ispartof: location:Netherlands status: published

Published
2021

230. Syndrome lymphoprolifératif avec autoimmunité: à propos d'un cas.

Author

Ben Youssif, Houda, Ailal, Fatima, Benhsaien, Ibtihal, El Bakkouri, Jalila, Jeddane, Laila, El Maani, Khadija, and Bousfiha, Ahmed Aziz

Subjects
T cells, LYMPHOPROLIFERATIVE disorders, GENETIC disorders, PHYSICIANS, LYMPHOCYTES, LYMPHADENITIS, PANCYTOPENIA
Abstract

Copyright of Pan African Medical Journal is the property of Pan African Medical Journal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2022
Full Text
View/download PDF

234. Effect of Heat and Enzymatic Treatments on Human IgE and Rabbit IgG Sensitivity to White Bean Allergens

Author

Amal Bousfiha and Aarab Lotfi

Subjects
Beans, Food allergy, Food processing, Immunoglobulin E, Pepsin., Medicine
Abstract

The aim of this study was to evaluate the sensitivity of the population of Fez and Casablanca in Morocco to dry white beans (Phaseolus Vulgaris) and to investigate the effect of food processing (heat and/or enzymatic hydrolysis by pepsin) on this sensitivity. Work was based on a bank consisting of 146 sera from patients with atopic hypersensitivity in order to evaluate specific immunoglobulin E (IgE) levels to native and processed white bean proteins by ELISA. Under the same conditions, we assessed the immunoreactivity of rabbit IgG obtained by immunization with native white bean proteins. Evaluation of specific IgE to the white bean proteins showed that 51% of children and 39% of adults had positive values. The heat treatment and pepsin hydrolysis of dry bean proteins showed a reduction of 68% of IgE binding recognition in more than 65% ofall patients. After heating, all patients indicated a reduction greater than 36%. With rabbit IgG, we observed a decrease by 25% of binding under heat treatment while enzymatic digestion reduced IgG recognition by 46.6%. These findings suggest that epitopes recognized by IgE in the studied population were conformational sites whereas those recognized by rabbit IgG were probably sequential. In conclusion, these results demonstrate that the Moroccan population was very sensitive to white beans and this sensitivity could be reduced after heat treatment or enzymatic hydrolysis.

Published
2013

236. Contributors

Author

Belohradsky, Bernd H., primary, Berger, Melvin, additional, Bousfiha, Aziz A., additional, Casanova, Jean-Laurent, additional, Cavazzana-Calvo, Marina, additional, Chapel, Helen M., additional, Condino-Neto, Antonio, additional, Cooper, Max D., additional, Cunningham-Rundles, Charlotte, additional, Currier, Robert, additional, de Saint Basile, Geneviève, additional, Demaret, Carol Ann, additional, Durandy, Anne, additional, Engelhardt, Karin R., additional, Etzioni, Amos, additional, Fischer, Alain, additional, Fleisher, Thomas A., additional, Frank, Michael M., additional, Gatti, Richard A., additional, Geha, Raif S., additional, Grimbacher, Bodo, additional, Hacein-Bey-Abina, Salima, additional, Hershfield, Michael S., additional, Hirschhorn, Rochelle, additional, Holland, Steven M., additional, Jeddane, Leila, additional, Kracker, Sven, additional, Leonard, Warren J., additional, McCurdy, Deborah, additional, McDonald-McGinn, Donna M., additional, Meuwissen, Hilaire J., additional, Modell, Fred M., additional, Modell, Vicki M., additional, Notarangelo, Luigi Daniele, additional, Ochs, Hans D., additional, Picard, Capucine, additional, Puck, Jennifer M., additional, Shearer, William T., additional, Smith, C.I. Edvard, additional, Stiehm, E. Richard, additional, Storb, Rainer, additional, Sullivan, Kathleen E., additional, Welte, Karl, additional, and Winkelstein, Jerry A., additional

Published
2014
Full Text
View/download PDF

237. High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency

Author

Yang, Rui, primary, Weisshaar, Marc, additional, Mele, Federico, additional, Benhsaien, Ibtihal, additional, Dorgham, Karim, additional, Han, Jing, additional, Croft, Carys A., additional, Notarbartolo, Samuele, additional, Rosain, Jérémie, additional, Bastard, Paul, additional, Puel, Anne, additional, Fleckenstein, Bernhard, additional, Glimcher, Laurie H., additional, Di Santo, James P., additional, Ma, Cindy S., additional, Gorochov, Guy, additional, Bousfiha, Aziz, additional, Abel, Laurent, additional, Tangye, Stuart G., additional, Casanova, Jean-Laurent, additional, Bustamante, Jacinta, additional, and Sallusto, Federica, additional

Published
2021
Full Text
View/download PDF

238. HumanSTAT3variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

Author

Asano, Takaki, primary, Khourieh, Joëlle, additional, Zhang, Peng, additional, Rapaport, Franck, additional, Spaan, András N., additional, Li, Juan, additional, Lei, Wei-Te, additional, Pelham, Simon J., additional, Hum, David, additional, Chrabieh, Maya, additional, Han, Ji Eun, additional, Guérin, Antoine, additional, Mackie, Joseph, additional, Gupta, Sudhir, additional, Saikia, Biman, additional, Baghdadi, Jamila E.I., additional, Fadil, Ilham, additional, Bousfiha, Aziz, additional, Habib, Tanwir, additional, Marr, Nico, additional, Ganeshanandan, Luckshman, additional, Peake, Jane, additional, Droney, Luke, additional, Williams, Andrew, additional, Celmeli, Fatih, additional, Hatipoglu, Nevin, additional, Ozcelik, Tayfun, additional, Picard, Capucine, additional, Abel, Laurent, additional, Tangye, Stuart G., additional, Boisson-Dupuis, Stéphanie, additional, Zhang, Qian, additional, Puel, Anne, additional, Béziat, Vivien, additional, Casanova, Jean-Laurent, additional, and Boisson, Bertrand, additional

Published
2021
Full Text
View/download PDF

240. Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases

Author

Benhsaien, Ibtihal, Ailal, Fatima, Elazhary, Khadija, El bakkouri, Jalila, Badou, Abdallah, and Bousfiha, Ahmed Aziz

Subjects
Article Subject
Abstract

Severe combined immunodeficiency (SCID) comprises a heterogeneous group of inherited immunologic disorders with profound defects in cellular and humoral immunity. SCID is the most severe PID and constitutes a pediatric emergency. Affected children are highly susceptible to bacterial, viral, fungal, and opportunistic infections with life-threatening in the absence of hematopoietic stem cell transplantation. We report here two cases of SCID. The first case is a girl diagnosed with SCID at birth based on her family history and lymphocyte subpopulation typing. The second case is a 4-month-old boy with a history of recurrent opportunistic infections, BCGitis, and failure to thrive, and the immunology workup confirms a SCID phenotype. The genetic study in the two cases revealed a novel mutation in the RAG2 gene, c.826G > A (p.Gly276Ser), in a homozygous state. The novel mutation in the RAG2 gene identified in our study may help the early diagnosis of SCID.

Published
2021
Full Text
View/download PDF

241. Autoantibodies neutralizing type I IFNs are present in similar to 4\% of uninfected individuals over 70 years old and account for similar to 20\% of COVID-19 deaths

Author

Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann H, Eto S, Garcia-Prat M, Bizien L, Parra-Martinez A, Yang R, Haljasmagi L, Migaud M, Sarekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt C, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garcon P, Riviere J, Lagier J, Gentile S, Rosen L, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux P, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath J, Franco J, Anaya J, Sole-Violan J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte O, Zhang Y, Snow A, Holland S, Biggs C, Moncada-Velez M, Arias A, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas A, Haerynck F, Duvlis S, Nussbaum R, Ozcelik T, Keles S, Bousfiha A, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarstrom Q, Hammarstrom L, Dupont A, Kurolap A, Metz C, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros L, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye S, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann N, Shcherbina A, Lau Y, Leung D, Coulongeat M, Marlet J, Koning R, Reyes L, Chauvineau-Grenier A, Venet F, Monneret G, Nussenzweig M, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer A, Kennelly S, Bourke N, Halwani R, Sharif-Askari N, Dorgham K, Sallette J, Sedkaoui S, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh D, Ostrowski S, Condino-Neto A, Prando C, Bondarenko A, Spaan A, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton R, Mane S, Anderson M, Boisson B, Beziat V, Zhang S, Andreakos E, Hermine O, Pujol A, Peterson P, Mogensen T, Rowen L, Mond J, Debette S, de Lamballerie X, Duval X, Mentre F, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen P, Piemonti L, Rodriguez-Gallego C, Notarangelo L, Su H, Kisand K, Okada S, Puel A, Jouanguy E, Rice C, Tiberghien P, Zhang Q, Cobat A, Abel L, Casanova J, HGID Lab, COVID Clinicians, COVID-STORM Clinicians, NIAID Immune Response Covid Grp, NH-COVAIR Study Grp, Danish CHGE, Danish Blood Donor Study, St Jamess Hosp Sars CoV2 Interest, French COVID Cohort Study Grp, Imagine COVID-Grp, Milieu Interieur Consortium, CoV-Contact Cohort, Amsterdam Umc Covid-19 Biobank Inv, COVID Human Genetic Efft, CONSTANCES Cohort, 3C-Dijon Study, Cerba HealthCare, Etab Sang Study Grp, and Acibadem University Dspace

Abstract

Circulating autoantibodies (auto-Abs) neutralizing high concentrations (10 ng/ml; in plasma diluted 1:10) of IFN-alpha and/or IFN-omega are found in about 10% of patients with critical COVID-19 (coronavirus disease 2019) pneumonia but not in individuals with asymptomatic infections. We detect auto-Abs neutralizing 100-fold lower, more physiological, concentrations of IFN-alpha and/or IFN-omega (100 pg/ml; in 1:10 dilutions of plasma) in 13.6% of 3595 patients with critical COVID-19, including 21% of 374 patients >80 years, and 6.5% of 522 patients with severe COVID-19. These antibodies are also detected in 18% of the 1124 deceased patients (aged 20 days to 99 years; mean: 70 years). Moreover, another 1.3% of patients with critical COVID-19 and 0.9% of the deceased patients have auto-Abs neutralizing high concentrations of IFN-beta. We also show, in a sample of 34,159 uninfected individuals from the general population, that auto-Abs neutralizing high concentrations of IFN-alpha and/or IFN-omega are present in 0.18% of individuals between 18 and 69 years, 1.1% between 70 and 79 years, and 3.4% >80 years. Moreover, the proportion of individuals carrying auto-Abs neutralizing lower concentrations is greater in a subsample of 10,778 uninfected individuals: 1% of individuals 80 years. By contrast, auto-Abs neutralizing IFN-beta do not become more frequent with age. Auto-Abs neutralizing type I IFNs predate SARS-CoV-2 infection and sharply increase in prevalence after the age of 70 years. They account for about 20% of both critical COVID-19 cases in the over 80s and total fatal COVID-19 cases.

Published
2021
Full Text
View/download PDF

242. A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family

Author

Zied Riahi, Majida Charif, Christine Petit, Amale Bousfiha, Ghita Amalou, Aymane Bouzidi, Crystel Bonnet, Guy Lenaers, Soukaina Elrharchi, Abdelhamid Barakat, Mostafa Kandil, Institut Pasteur du Maroc, Réseau International des Instituts Pasteur (RIIP), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Chouaib Doukkali (UCD), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), ED 515 - Complexité du vivant, Sorbonne Université (SU), Faculté des Sciences Ben M'sik [Casablanca], Université Hassan II [Casablanca] (UH2MC), Université Mohamed 1 Oujda MAROC, Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Collège de France (CdF (institution)), This work was supported by Pasteur Institute of Morocco (IPM). This project was financially supported by CAMPUS FRANCE (PHC TOUBKAL 2019 (French-Morocco bilateral program) Grant Number: 39005ZL)., The authors are indebted to the family that contributed to this study and to the CAMPUS FRANCE French-Morocco PHC TOUBKAL 2019 bilateral program (Grant Number: 39005ZL)., Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), and Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Hearing loss, MPZL2, [SDV]Life Sciences [q-bio], Deafness, 03 medical and health sciences, Consanguinity, 0302 clinical medicine, Tandem repeat, 030225 pediatrics, medicine, otorhinolaryngologic diseases, Humans, Allele, 030223 otorhinolaryngology, Hearing Loss, Genotyping, Gene, Exome sequencing, Genetics, business.industry, Haplotype, Homozygote, Non syndromic hearing loss, General Medicine, 3. Good health, Pedigree, Morocco, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, medicine.symptom, business, Cell Adhesion Molecules
Abstract

International audience; Adhesion glycoproteins are implicated in the pathophysiology of hearing loss, the most frequent inherited sensory disorder, affecting 1 in 1000 new-borns. Exome sequencing of a consanguineous Moroccan patient with mild hearing loss identified for the first time in a North African family a single homozygous mutation c.72delA in MPZL2 gene, encoding the Myelin Protein Zero-Like 2, reported as causing deafness in two other populations. Variable tandem repeat genotyping of this family revealed that the c.72delA MPZL2 allele shared a common haplotype with Turkish and Dutch families. These results confirm the pathogenicity of this MPZL2 mutation in recessive mild to moderate non-syndromic deafness.

Published
2021
Full Text
View/download PDF

243. Defects in intrinsic and innate immunity

Author

Mohamed-Ridha Barbouche, Hassan Abolhassani, Morteza Fallahpour, Aziz Bousfiha, Peter Olbrich, Farhad Seif, Soheila Alyasin, and Alireza Mahdaviani

Subjects
Respiratory Mucosa, Innate immune system, business.industry, Immunology, Pattern recognition receptor, Medicine, Disease, Acquired immune system, business, Receptor, medicine.disease, Immunodeficiency, Complement system
Abstract

Innate immunity consists of phagocytic cells such as neutrophils, macrophages, dendritic cells, or intermediate cells (penumbra between innate and adaptive immunity) such as natural killer (NK) cells, and NK-T cells accompanied by natural barriers (skin epithelial layers and antimicrobial secretions and gastrointestinal and respiratory mucosa), and cytokines. Innate Immunity receptors that are called pattern recognition receptors (PRRs) are either cell-associated (e.g., Toll-like Receptor) or soluble (e.g., complement proteins) that can recognize numerous pathogen-associated molecular patterns or damage-associated molecular patterns. Some defects in each part of this integrated system involved in bacterial defense may result in pyogenic infections. We have provided in this chapter an appropriate or timely diagnosis and management guideline of innate immunodeficiency which can enhance the outcome of the disease treatment and provide more insight into introducing cost-effective and accurate predictive, diagnostic, and prognostic approaches to lessen the burden of the disease for patients, their families, and healthcare systems in the future.

Published
2021
Full Text
View/download PDF

244. Contributors

Author

Hassan Abolhassani, Asghar Aghamohammadi, Pilar Llobet Agulló, Hamid Ahanchian, Soheila Alyasin, Saba Arshi, Gholamreza Azizi, Mohamed-Ridha Barbouche, Mohammad Hassan Bemanian, Aziz Bousfiha, Zahra Chavoshzadeh, Taher Cheraghi, Romina Dieli Crimi, Charlotte Cunningham-Rundles, Abbas Dabbaghzadeh, Sepideh Darougar, Rainer Doffinger, Anne Durandy, Mohammad Ehlayel, Hermann Eibel, Mohammad Hossein Eslamian, Hossein Esmaeilzadeh, Teresa Espanol, Morteza Fallahpour, Saba Fekrvand, Andrew R Gennery, Javad Ghaffari, Negar Ghaffari, Sudhir Gupta, Lennart Hammarström, Marzieh Heydrzadeh, Arash Kalantari, Rasoul Nasiri Kalmarzi, Hirokazu Kanegane, Negar Khalighi, Abbas Khalili, Martin Lavin, Alireza Mahdaviani, Tooba Momen, Mohammad Nabavi, Tim Niehues, Hans D. Ochs, Peter Olbrich, Alessandro Plebani, Nima Rezaei, Farhad Seif, Mikko Seppänen, Mahnaz Sadeghi Shabestari, Alireza Shafiei, Mansoureh Shariat, Deepti Suri, Marzieh Tavakol, Mirjam van der Burg, Menno van Zelm, Ahmad Vosoughi Motlagh, and Reza Yazdani

Published
2021
Full Text
View/download PDF

245. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Author

Bastard, P. Gervais, A. Voyer, T.L. Rosain, J. Philippot, Q. Manry, J. Michailidis, E. Hoffmann, H.-H. Eto, S. Garcia-Prat, M. Bizien, L. Parra-Martínez, A. Yang, R. Haljasmägi, L. Migaud, M. Särekannu, K. Maslovskaja, J. De Prost, N. Tandjaoui-Lambiotte, Y. Luyt, C.-E. Amador-Borrero, B. Gaudet, A. Poissy, J. Morel, P. Richard, P. Cognasse, F. Troya, J. Trouillet-Assant, S. Belot, A. Saker, K. Garçon, P. Rivière, J.G. Lagier, J.-C. Gentile, S. Rosen, L.B. Shaw, E. Morio, T. Tanaka, J. Dalmau, D. Tharaux, P.-L. Sene, D. Stepanian, A. Megarbane, B. Triantafyllia, V. Fekkar, A. Heath, J.R. Franco, J.L. Anaya, J.-M. Solé-Violán, J. Imberti, L. Biondi, A. Bonfanti, P. Castagnoli, R. Delmonte, O.M. Zhang, Y. Snow, A.L. Holland, S.M. Biggs, C.M. Moncada-Vélez, M. Arias, A.A. Lorenzo, L. Boucherit, S. Coulibaly, B. Anglicheau, D. Planas, A.M. Haerynck, F. Duvlis, S. Nussbaum, R.L. Ozcelik, T. Keles, S. Bousfiha, A.A. El Bakkouri, J. Ramirez-Santana, C. Paul, S. Pan-Hammarström, Q. Hammarström, L. Dupont, A. Kurolap, A. Metz, C.N. Aiuti, A. Casari, G. Lampasona, V. Ciceri, F. Barreiros, L.A. Dominguez-Garrido, E. Vidigal, M. Zatz, M. Van De Beek, D. Sahanic, S. Tancevski, I. Stepanovskyy, Y. Boyarchuk, O. Nukui, Y. Tsumura, M. Vidaur, L. Tangye, S.G. Burrel, S. Duffy, D. Quintana-Murci, L. Klocperk, A. Kann, N.Y. Shcherbina, A. Lau, Y.-L. Leung, D. Coulongeat, M. Marlet, J. Koning, R. Reyes, L.F. Chauvineau-Grenier, A. Venet, F. Monneret, G. Nussenzweig, M.C. Arrestier, R. Boudhabhay, I. Baris-Feldman, H. Hagin, D. Wauters, J. Meyts, I. Dyer, A.H. Kennelly, S.P. Bourke, N.M. Halwani, R. Sharif-Askari, N.S. Dorgham, K. Sallette, J. Sedkaoui, S.M. AlKhater, S. Rigo-Bonnin, R. Morandeira, F. Roussel, L. Vinh, D.C. Ostrowski, S.R. Condino-Neto, A. Prando, C. Bondarenko, A. Spaan, A.N. Gilardin, L. Fellay, J. Lyonnet, S. Bilguvar, K. Lifton, R.P. Mane, S. Anderson, M.S. Boisson, B. Béziat, V. Zhang, S.-Y. Andreakos, E. Hermine, O. Pujol, A. Peterson, P. Mogensen, T.H. Rowen, L. Mond, J. Debette, S. De Lamballerie, X. Duval, X. Mentré, F. Zins, M. Soler-Palacin, P. Colobran, R. Gorochov, G. Solanich, X. Susen, S. Martinez-Picado, J. Raoult, D. Vasse, M. Gregersen, P.K. Piemonti, L. Rodríguez-Gallego, C. Notarangelo, L.D. Su, H.C. Kisand, K. Okada, S. Puel, A. Jouanguy, E. Rice, C.M. Tiberghien, P. Zhang, Q. Cobat, A. Abel, L. Casanova, J.-L. Alavoine, L. Behillil, S. Burdet, C. Charpentier, C. Dechanet, A. Descamps, D. Ecobichon, J.-L. Enouf, V. Frezouls, W. Houhou, N. Kafif, O. Lehacaut, J. Letrou, S. Lina, B. Lucet, J.-C. Manchon, P. Nouroudine, M. Piquard, V. Quintin, C. Thy, M. Tubiana, S. Van Der Werf, S. Vignali, V. Visseaux, B. Yazdanpanah, Y. Chahine, A. Waucquier, N. Migaud, M.-C. Deplanque, D. Djossou, F. Mergeay-Fabre, M. Lucarelli, A. Demar, M. Bruneau, L. Gerardin, P. Maillot, A. Payet, C. Laviolle, B. Laine, F. Paris, C. Desille-Dugast, M. Fouchard, J. Malvy, D. Nguyen, D. Pistone, T. Perreau, P. Gissot, V. Le Goas, C. Montagne, S. Richard, L. Chirouze, C. Bouiller, K. Desmarets, M. Meunier, A. Lefevre, B. Jeulin, H. Legrand, K. Lomazzi, S. Tardy, B. Gagneux-Brunon, A. Bertholon, F. Botelho-Nevers, E. Christelle, K. Nicolas, L. Roufai, L. Amat, K. Couffin-Cadiergues, S. Esperou, H. Hendou, S. Townsend, L. Cheallaigh, C.N. Bergin, C. Martin-Loeches, I. Dunne, J. Conlon, N. O'Farrelly, C. Abad, J. Accordino, G. Achille, C. Aguilera-Albesa, S. Aguilo-Cucurull, A. Ozkan, E.A. Darazam, I.A. Albisures, J.A.R. Aldave, J.C. Ramos, M.A. Khan, T.A. Aliberti, A. Nadji, S.A. Alkan, G. AlKhater, S.A. Allardet-Servent, J. Allende, L.M. Alonso-Arias, R. Alshahrani, M.S. Alsina, L. Alyanakian, M.-A. Borrero, B.A. Amoura, Z. Antoli, A. Aubart, M. Auguet, T. Avramenko, I. Aytekin, G. Azot, A. Bahram, S. Bajolle, F. Baldanti, F. Baldolli, A. Ballester, M. Feldman, H.B. Barrou, B. Barzaghi, F. Basso, S. Bayhan, G.I. Bezrodnik, L. Bilbao, A. Blanchard-Rohner, G. Blanco, I. Blandinieres, A. Blazquez-Gamero, D. Bleibtreu, A. Bloomfield, M. Bolivar-Prados, M. Borghesi, A. Borie, R. Botdhlo-Nevers, E. Bousquet, A. Boutolleau, D. Bouvattier, C. Bravais, J. Briones, M.L. Brunner, M.-E. Bruno, R. Bueno, M.R.P. Bukhari, H. Bustamante, J. Agra, J.J.C. Capra, R. Carapito, R. Carrabba, M. Casasnovas, C. Caseris, M. Cassaniti, I. Castelle, M. Castelli, F. De Vera, M.C. Castro, M.V. Catherinot, E. Celik, J.B. Ceschi, A. Chalumeau, M. Charbit, B. Cheng, M.P. Clave, P. Clotet, B. Codina, A. Cohen, Y. Comarmond, C. Combes, A. Comoli, P. Corsico, A.G. Coşkuner, T. Cvetkovski, A. Cyrus, C. Danion, F. Darley, D.R. Das, V. Dauby, N. Dauger, S. De Munter, P. De Pontual, L. Dehban, A. Delplancq, G. Demoule, A. Desguerre, I. Di Sabatino, A. Diehl, J.-L. Dobbelaere, S. Dubost, C. Ekwall, O. Bozdemir, Ş.E. Elnagdy, M.H. Emiroglu, M. Endo, A. Erdeniz, E.H. Aytekin, S.E. Lasa, M.P.E. Euvrard, R. Fabio, G. Faivre, L. Falck, A. Fartoukh, M. Faure, M. Arquero, M.F. Ferrer, R. Ferreres, J. Flores, C. Francois, B. Fumado, V. Fung, K.S.C. Fusco, F. Gagro, A. Solis, B.G. Gaussem, P. Gayretli, Z. Gil-Herrera, J. Gatineau, A.G. Girona-Alarcon, M. Godinez, K.A.C. Goffard, J.-C. Gonzales, N. Gonzalez-Granado, L.I. Gonzalez-Montelongo, R. Guerder, A. Gulhan, B. Gumucio, V.D. Hanitsch, L.G. Gunst, J. Gut, M. Hadjadj, J. Hancerli, S. Hariyan, T. Hatipoglu, N. Heppekcan, D. Hernandez-Brito, E. Ho, P.-K. Holanda-Pena, M.S. Horcajada, J.P. Hraiech, S. Humbert, L. Hung, I.F.N. Iglesias, A.D. Inigo-Campos, A. Jamme, M. Arranz, M.J. Jimeno, M.-T. Jordan, I. Kanik-Yuksek, S. Kara, Y.B. Karahan, A. Karbuz, A. Yasar, K.K. Kasapcopur, O. Kashimada, K. Demirkol, Y.K. Kido, Y. Kizil, C. Kilic, A.O. Koutsoukou, A. Krol, Z.J. Ksouri, H. Kuentz, P. Kwan, A.M.C. Kwan, Y.W.M. Kwok, J.S.Y. Lam, D.S.Y. Lampropoulou, V. Lanternier, F. Le Bourgeois, F. Leo, Y.-S. Lopez, R.L. Levin, M. Levy, M. Levy, R. Li, Z. Lilleri, D. Lima, E.J.A.B. Linglart, A. Lopez-Collazo, E. Lorenzo-Salazar, J.M. Louapre, C. Lubetzki, C. Lung, K.-C. Lye, D.C. Magnone, C. Mansouri, D. Marchioni, E. Marioli, C. Marjani, M. Marques, L. Pereira, J.M. Martin-Nalda, A. Pueyo, D.M. Marzana, I. Mata-Martinez, C. Mathian, A. Matos, L.R.B. Matthews, G.V. Mayaux, J. McLaughlin-Garcia, R. Meersseman, P. Mege, J.-L. Mekontso-Dessap, A. Melki, I. Meloni, F. Meritet, J.-F. Merlani, P. Akcan, O.M. Mezidi, M. Migeotte, I. Millereux, M. Million, M. Mirault, T. Mircher, C. Mirsaeidi, M. Mizoguchi, Y. Modi, B.P. Mojoli, F. Moncomble, E. Melian, A.M. Martinez, A.M. Morange, P.-E. Mordacq, C. Morelle, G. Mouly, S.J. Munoz-Barrera, A. Nafati, C. Nagashima, S. Nakagama, Y. Neven, B. Neves, J.F. Ng, L.F.P. Ng, Y.-Y. Nielly, H. Medina, Y.N. Cuadros, E.N. Ocejo-Vinyals, J.G. Okamoto, K. Oualha, M. Ouedrani, A. Ozkaya-Parlakay, A. Pagani, M. Papadaki, M. Parizot, C. Parola, P. Pascreau, T. Paz-Artal, E. Pedraza, S. Pellecer, N.C.G. Pellegrini, S. De Diego, R.P. Perez-Fernandez, X.L. Philippe, A. Picod, A. De Chambrun, M.P. Piralla, A. Planas-Serra, L. Ploin, D. Poncelet, G. Poulakou, G. Pouletty, M.S. Pourshahnazari, P. Qiu-Chen, J.L. Quentric, P. Rambaud, T. Raoult, V. Rebillat, A.-S. Redin, C. Resmini, L. Ricart, P. Richard, J.-C. Rivet, N. Rocamora-Blanch, G. Rodero, M.P. Rodrigo, C. Rodriguez, L.A. Rodriguez-Palmero, A. Romero, C.S. Rothenbuhler, A. Roux, D. Rovina, N. Rozenberg, F. Ruch, Y. Ruiz, M. Del Prado, M.Y.R. Ruiz-Rodriguez, J.C. Sabater-Riera, J. Saks, K. Salagianni, M. Sanchez, O. Sanchez-Montalva, A. Sanchez-Ramon, S. Schidlowski, L. Schluter, A. Schmidt, J. Schmidt, M. Schuetz, C. Schweitzer, C.E. Scolari, F. Sediva, A. Seijo, L. Seminario, A.G. Seng, P. Senoglu, S. Seppanen, M. Llovich, A.S. Shahrooei, M. Siguret, V. Siouti, E. Smadja, D.M. Smith, N. Sobh, A. Soler, C. Sozeri, B. Stella, G.M. Stepanovskiy, Y. Stoclin, A. Taccone, F. Taupin, J.-L. Tavernier, S.J. Terrier, B. Thiery, G. Thorball, C. Thorn, K. Thumerelle, C. Tipu, I. Tolstrup, M. Tomasoni, G. Toubiana, J. Alvarez, J.T. Tsang, O.T.Y. Tserel, L. Tso, E.Y.K. Tucci, A. Oz, Ş.K.T. Ursini, M.V. Utsumi, T. Uzunhan, Y. Vabres, P. Valencia-Ramos, J. Van Den Rym, A.M. Vandernoot, I. Velez-Santamaria, V. Veliz, S.P.Z. Vidigal, M.C. Viel, S. Vilain, C. Vilaire-Meunier, M.E. Villar-Garcia, J. Vincent, A. Vogt, G. Voiriot, G. Volokha, A. Vuotto, F. Wauters, E. Wu, A.K.L. Wu, T.-C. Yahşi, A. Yesilbas, O. Yildiz, M. Young, B.E. Yukselmiş, U. Zecca, M. Zuccaro, V. Van Praet, J. Lambrecht, B.N. Van Braeckel, E. Bosteels, C. Hoste, L. Hoste, E. Bauters, F. De Clercq, J. Heijmans, C. Slabbynck, H. Naesens, L. Florkin, B. Boulanger, C. Vanderlinden, D. Allavena, C. Andrejak, C. Angoulvant, F. Azoulay, C. Bachelet, D. Bartoli, M. Basmaci, R. Behillill, S. Beluze, M. Benech, N. Benkerrou, D. Bhavsar, K. Bitker, L. Bouadma, L. Bouscambert-Duchamp, M. Paz, P.C. Cervantes-Gonzalez, M. Chair, A. Coelho, A. Cordel, H. Couffignal, C. D'Ortenzio, E. De Montmollin, E. Debard, A. Debray, M.-P. Desvallee, M. Diallo, A. Diouf, A. Dorival, C. Dubos, F. Eloy, P. Epaulard, O. Esposito-Farase, M. Etienne, M. Garot, D. Gault, N. Gaymard, A. Ghosn, J. Gigante, T. Gilg, M. Goehringer, F. Guedj, J. Hoctin, A. Hoffmann, I. Houas, I. Hulot, J.-S. Jaafoura, S. Kaguelidou, F. Kali, S. Kerroumi, Y. Khalil, A. Khan, C. Kimmoun, A. Laouenan, C. Laribi, S. Le, M. Le Bris, C. Le Gac, S. Le Hingrat, Q. Le Mestre, S. Le Nagard, H. Lemaignen, A. Lemee, V. Lescure, F.-X. Levy, Y. Lingas, G. Lucet, J.C. MacHado, M. Mambert, M. Manuel, A. Meziane, A. Mouquet, H. Mullaert, J. Neant, N. Noret, M. Papadopoulos, A. Paul, C. Peiffer-Smadja, N. Peigne, V. Petrov-Sanchez, V. Peytavin, G. Pham, H. Picone, O. Puechal, O. Rosa-Calatrava, M. Rossignol, B. Rossignol, P. Roy, C. Schneider, M. Su, R. Tardivon, C. Tellier, M.-C. Teoule, F. Terrier, O. Timsit, J.F. Tual, C. Vanel, N. Veislinger, A. Wiedemann, A. Danielson, J.J. Dobbs, K. Kashyap, A. Ding, L. Dalgard, C.L. Sottini, A. Quaresima, V. Quiros-Roldan, E. Rossi, C. Bettini, L.R. D'Angio, M. Beretta, I. Montagna, D. Licari, A. Marseglia, G.L. Storgaard, M. Jorgensen, S. Al-Muhsen, S. Al-Mulla, F. Arias, A.A. Bogunovic, D. Bolze, A. Brodin, P. Bryceson, Y. Bustamante, C.D. Butte, M.J. Chakravorty, S. Christodoulou, J. Constantinescu, S.N. Cooper, M.A. Desai, M. Drolet, B.A. El Baghdadi, J. Espinosa-Padilla, S. Froidure, A. Henrickson, S.E. Hsieh, E.W.Y. Husebye, E.S. Imai, K. Itan, Y. Jarvis, E.D. Karamitros, T. Ku, C.-L. Ling, Y. Lucas, C.L. Maniatis, T. Marodi, L. Milner, J.D. Mironska, K. Novelli, A. Novelli, G. Renia, L. Resnick, I. Sancho-Shimizu, V. Seppanen, M.R.J. Shahrooei, M. Slaby, O. Tayoun, A.A. Ramaswamy, S. Turvey, S.E. Furkan Uddin, K.M. Uddin, M.J. Von Bernuth, H. Zawadzki, P. Bigio, B. De La Chapelle, A. Chen, J. Chrabieh, M. Liu, D. Nemirowskaya, Y. Cruz, I.M. Materna, M. Pelet, S. Seeleuthner, Y. Thibault, C. Liu, Z. Foti, G. Bellani, G. Citerio, G. Contro, E. Pesci, A. Valsecchi, M.G. Cazzaniga, M. Batten, I. Reddy, C. McElheron, M. Noonan, C. Connolly, E. Fallon, A. Erikstrup, C. Pedersen, O.B. Sorensen, E. Mikkelsen, S. Dinh, K.M. Larsen, M.A.H. Paulsen, I.W. Von Stemann, J.H. Hansen, M.B. Annereau, J.-P. Briseno-Roa, L. Gribouval, O. Pelet, A. Alcover, A. Aschard, H. Bousso, P. Bruhns, P. Cerf-Bensussan, N. Cumano, A. D'Enfert, C. Deriano, L. Dillies, M.-A. Di Santo, J. Dromer, F. Eberl, G. Enninga, J. Gomperts-Boneca, I. Hasan, M. Hedestam, G.K. Hercberg, S. Ingersoll, M.A. Lantz, O. Kenny, R.A. Menager, M. Michel, F. Patin, E. Pellegrini, S. Rausell, A. Rieux-Laucat, F. Rogge, L. Fontes, M. Sakuntabhai, A. Schwartz, O. Schwikowski, B. Shorte, S. Tangy, F. Toubert, A. Touvier, M. Ungeheuer, M.-N. Zimmer, C. Albert, M.L. Van Agtmael, M. Algera, A.G. Appelman, B. Van Baarle, F. Bax, D. Beudel, M. Bogaard, H.J. Bomers, M. Bonta, P. Bos, L. Botta, M. De Brabander, J. De Bree, G. De Bruin, S. Buis, D.T.P. Bugiani, M. Bulle, E. Chouchane, O. Cloherty, A. Dijkstra, M. Dongelmans, D.A. Dujardin, R.W.G. Elbers, P. Fleuren, L. Geerlings, S. Geijtenbeek, T. Girbes, A. Goorhuis, B. Grobusch, M.P. Hafkamp, F. Hagens, L. Hamann, J. Harris, V. Hemke, R. Hermans, S.M. Heunks, L. Hollmann, M. Horn, J. Hovius, J.W. De Jong, M.D. Lim, E.H.T. Van Mourik, N. Nellen, J. Nossent, E.J. Paulus, F. Peters, E. Pina-Fuentes, D.A.I. Van Der Poll, T. Preckel, B. Prins, J.M. Raasveld, J. Reijnders, T. De Rotte, M.C.F.J. Schinkel, M. Schultz, M.J. Schrauwen, F.A.P. Schuurman, A. Schuurmans, J. Sigaloff, K. Slim, M.A. Smeele, P. Smit, M. Stijnis, C.S. Stilma, W. Teunissen, C. Thoral, P. Tsonas, A.M. Tuinman, P.R. Van Der Valk, M. Veelo, D. Volleman, C. De Vries, H. Vught, L.A. Van Vugt, M. Wouters, D. Zwinderman, A.H. Brouwer, M.C. Joost Wiersinga, W. Vlaar, A.P.J. Nadif, R. Goldberg, M. Ozguler, A. Henny, J. Lemonnier, S. Coeuret-Pellicer, M. Le Got, S. Tzourio, C. Dufouil, C. Soumare, A. Lachaize, M. Fievet, N. Flaig, A. Martin, F. Bonneaudeau, B. Cannet, D. Gallian, P. Jeanne, M. Perroquin, M. Hamzeh-Cognasse, H. CoV-Contact Cohort St James's Hospital, SARS CoV2 Interest group COVID Clinicians French COVID Cohort Study Group NIAID Immune Response to COVID Group Danish CHGE COVID Human Genetic Effort HGID Lab COVID-STORM Clinicians NH-COVAIR Study Group The Danish Blood Donor Study (DBDS) Imagine COVID-Group The Milieu Interieur Consortium Amsterdam UMC Covid-19 Biobank CONSTANCES cohort 3C-Dijon Study Cerba HealthCare Etablissement du Sang study group

Abstract

Circulating autoantibodies (auto-Abs) neutralizing high concentrations (10 ng/ml; in plasma diluted 1:10) of IFN-α and/or IFN-ω are found in about 10% of patients with critical COVID-19 (coronavirus disease 2019) pneumonia but not in individuals with asymptomatic infections. We detect auto-Abs neutralizing 100-fold lower, more physiological, concentrations of IFN-α and/or IFN-ω (100 pg/ml; in 1:10 dilutions of plasma) in 13.6% of 3595 patients with critical COVID-19, including 21% of 374 patients >80 years, and 6.5% of 522 patients with severe COVID-19. These antibodies are also detected in 18% of the 1124 deceased patients (aged 20 days to 99 years; mean: 70 years). Moreover, another 1.3% of patients with critical COVID-19 and 0.9% of the deceased patients have auto-Abs neutralizing high concentrations of IFN-β. We also show, in a sample of 34,159 uninfected individuals from the general population, that auto-Abs neutralizing high concentrations of IFN-α and/or IFN-ω are present in 0.18% of individuals between 18 and 69 years, 1.1% between 70 and 79 years, and 3.4% >80 years. Moreover, the proportion of individuals carrying auto-Abs neutralizing lower concentrations is greater in a subsample of 10,778 uninfected individuals: 1% of individuals 80 years. By contrast, auto-Abs neutralizing IFN-β do not become more frequent with age. Auto-Abs neutralizing type I IFNs predate SARS-CoV-2 infection and sharply increase in prevalence after the age of 70 years. They account for about 20% of both critical COVID-19 cases in the over 80s and total fatal COVID-19 cases. © 2021 The Authors, some rights reserved.

Published
2021

246. Sepsis chez l’enfant: protocole d’orientation rapide vers la réanimation pédiatrique

Author

Ouissal Aissaoui, Meryem El-bouz, Abdelaziz Chlilek, Ahmed Aziz Bousfiha, and Widad Gueddari

Subjects
medicine.medical_specialty, Pediatric sepsis, Sepsis, enfant, réanimation pédiatrique, business.industry, Public health, High mortality, Global health, medicine, Developing country, General Medicine, Intensive care medicine, business, Open access journal
Abstract

Pediatric sepsis is associated with high mortality rates. The mortality is even higher in low income countries, therefor, implementation of simplified protocols of recognition, evaluation and management is crucial. These protocols must be tailored to local resources. We suggest in this letter a practical protocol allowing rapid transfer of pediatric sepsis patients to the PICU.

Published
2021
Full Text
View/download PDF

247. A Study on the Influencing Factors of International Investments between China and Europe

Author

bousfiha, Houda, ping, Zhang, bousfiha, Houda, and ping, Zhang

Abstract

China and Europe are two big economies in the world, and there is much investment between them. As we know China has been investing almost in all around the world, Chinese investments in Europe have begun in recent years, and have become a symbol of Europe-China relations. According to data by the Rhodium Group, the amount of Chinese FDI in the EU has increased approximately 37 billion Euros in the first half of 2016, comparing with only 1.6 billion Euros in 2010.A big part of Chinese direct investment is mainly concentrated in the major economies in southern Europe or we can call it the BIG 3, as the UK, France and Germany all together. DOI: 10.7176/EJBM/13-6-04 Publication date:March 31st 2021

Published
2021

249. The Seven STAT3-Related Hyper-IgE Syndromes

Author

Ilham, Fadil, Meriem, Ben-Ali, Leila, Jeddane, Mohamed-Ridha, Barbouche, and Ahmed Aziz, Bousfiha

Subjects
Mutation, Humans, Immunoglobulin E, Job Syndrome, Signal Transduction
Published
2020

250. Recent advances in electrochemical meso- and β-functionalization of porphyrins and electrografting of diazonium porphyrins

Author

Asmae Bousfiha, Abdou K. D. Dime, Charles H. Devillers, Institut de Chimie Moléculaire de l'Université de Bourgogne [Dijon] (ICMUB), and Centre National de la Recherche Scientifique (CNRS)-Université de Bourgogne (UB)-Institut de Chimie du CNRS (INC)

Subjects
Anodic nucleophilic substitution, 02 engineering and technology, 010402 general chemistry, Photochemistry, Electrochemistry, 01 natural sciences, Diazonium-porphyrin electrografting, Analytical Chemistry, Porphyrin, chemistry.chemical_compound, Organic electrosynthesis, [CHIM.ANAL]Chemical Sciences/Analytical chemistry, [CHIM.COOR]Chemical Sciences/Coordination chemistry, [CHIM.ORGA]Chemical Sciences/Organic chemistry, Intermolecular force, Electropolymerization, [CHIM.MATE]Chemical Sciences/Material chemistry, 021001 nanoscience & nanotechnology, 0104 chemical sciences, Coupling (electronics), chemistry, Intramolecular force, Surface modification, 0210 nano-technology
Abstract

Recent studies on electrochemical meso- and β-functionalization of porphyrins and electrografting of diazonium porphyrin are presented. First, the electrochemical oxidative C–C coupling between porphyrins will be presented, followed by the intermolecular and intramolecular meso- and β-substitutions of porphyrins. Then, the latest results on diazonium porphyrin electrografting will be reviewed.

Published
2020
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results