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2. Endocrine contribution to the sexual dysfunction in patients with advanced chronic kidney disease and the role of hyperprolactinemia

Author

Elbardisi, H, Majzoub, A, Daniel, C, Al Ali, F, Elesnawi, M, Khalafalla, K, Agarwal, A, Henkel, R, Alattar, A, Al-Emadi, I, and Arafa, M

Abstract

In this study, we investigated the prevalence of sexual dysfunction among males with advanced chronic kidney disease and the effect of treating hyperprolactinemia among these patients. In this prospective study, patients were assessed with history, physical examination, hormonal assessment, and two questionnaires, IIEF and AIPE. Patients with hyperprolactinemia received treatment with cabergoline 0.5 mg once per week for 6 months and were re-evaluated. A total of 102 patients were included in this study, 75 (73.53%) were on hemodialysis, 13 (12.75%) on peritoneal dialysis and 14 (13.73%) on medical treatment alone. Ninety (88.24%) patients had premature ejaculation, 85 (83.33%) had anything from mild-to-moderate-to-severe erectile dysfunction. The incidence of hypogonadism and hyperprolactinemia was 34.4%. Patients treated with cabergoline (n = 26) showed a significant increase in LH levels (p = .003) and a significant decrease in prolactin levels (p = .003). Testosterone levels and the incidence of erectile dysfunction or premature ejaculation did not improve significantly. There is a high incidence of sexual dysfunction among patients. Treatment of hyperprolactinemia is effective in correcting prolactin levels, but does not improve erectile dysfunction or premature ejaculation. Therefore, treating hyperprolactinemia is not an overall effective treatment for erectile dysfunction in these patients.

Published
2021

3. X-linked recessive TLR7 deficiency in similar to 1% of men under 60 years old with life-threatening COVID-19

Author

Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Renkilaraj M, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, Talouarn E, Bigio B, Seeleuthner Y, Bilguvar K, Zhang Y, Neehus A, Ogishi M, Pelham S, Le Voyer T, Rosain J, Philippot Q, Soler-Palacin P, Colobran R, Martin-Nalda A, Riviere J, Tandjaoui-Lambiotte Y, Chaibi K, Shahrooei M, Darazam I, Olyaei N, Mansouri D, Palabiyik F, Ozcelik T, Novelli G, Novelli A, Casari G, Aiuti A, Carrera P, Bondesan S, Barzaghi F, Rovere-Querini P, Tresoldi C, Franco J, Rojas J, Reyes L, Bustos I, Arias A, Morelle G, Kyheng C, Troya J, Planas-Serra L, Schluter A, Gut M, Pujol A, Allende L, Rodriguez-Gallego C, Flores C, Cabrera-Marante O, Pleguezuelo D, de Diego R, Keles S, Aytekin G, Akcan O, Bryceson Y, Bergman P, Brodin P, Smole D, Smith C, Norlin A, Campbell T, Covill L, Hammarstrom L, Pan-Hammarstrom Q, Abolhassani H, Mane S, Marr N, Ata M, Al Ali F, Khan T, Spaan A, Dalgard C, Bonfanti P, Biondi A, Tubiana S, Burdet C, Nussbaum R, Kahn-Kirby A, Snow A, Bustamante J, Puel A, Boisson-Dupuis S, Zhang S, Beziat V, Lifton R, Bastard P, Notarangelo L, Abel L, Su H, Jouanguy E, Amara A, Soumelis V, Cobat A, Zhang Q, Casanova J, COVID Human Genetic Efft, COVID-STORM Cliniciano, COVID Clinicians, Imagine COVID Grp, French COVID Cohort Study Grp, Cov-Contact Cohort, Amsterdam UMC Covid-19 Biobank, and NIAID-USUHS Covid Study Grp

Subjects
virus diseases
Abstract

Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare, biochemically deleterious X-linked TLR7 variants in 16 unrelated male individuals aged 7 to 71 years (mean, 36.7 years) from a cohort of 1202 male patients aged 0.5 to 99 years (mean, 52.9 years) with unexplained critical COVID-19 pneumonia. None of the 331 asymptomatically or mildly infected male individuals aged 1.3 to 102 years (mean, 38.7 years) tested carry such TLR7 variants (P = 3.5 x 10(-5)). The phenotypes of five hemizygous relatives of index cases infected with SARS-CoV-2 include asymptomatic or mild infection (n = 2) or moderate (n = 1), severe (n = 1), or critical (n = 1) pneumonia. Two patients from a cohort of 262 male patients with severe COVID-19 pneumonia (mean, 51.0 years) are hemizygous for a deleterious TLR7 variant. The cumulative allele frequency for deleterious TLR7 variants in the male general population is

Published
2021

4. Assessment of treatment burden and its impact on quality of life in dialysis-dependent and pre-dialysis chronic kidney disease patients

Author

Al-mansouri, A., Al-Ali, F. S., Hamad, A. I., Ibrahim, Mohamed Izham Mohamed, Kheir, N., Ibrahim, R. A., AlBakri, M., and Awaisu, Ahmed

Subjects
Quality of life, Treatment burden, Medication burden, Chronic kidney disease, Dialysis, Patient-reported outcome
Abstract

Background The management of chronic kidney disease (CKD) and its complications places a significant burden on patients, resulting in impairment of their health-related quality of life (HR-QOL). Little is known about treatment-related burden in pre-dialysis and hemodialysis (HD) CKD patients. Objective This study aimed to investigate the magnitude of treatment-related burden and its impact on HR-QOL among patients with CKD. Methods This was a prospective, cross-sectional study to assess treatment-related burden and HR-QOL among patients with CKD in Qatar. Treatment-related burden and HR-QOL were assessed quantitatively using the Treatment Burden Questionnaire (TBQ) and the Kidney Disease Quality of Life (KDQOL™) questionnaire, respectively. The total TBQ score ranges from 0 to 150, with a higher score indicating higher treatment burden, while the range of total possible scores for the KDQOL™ are from 0 to 3600 with higher transformed score indicating better QOL. Pre-dialysis and hemodialysis (HD) CKD patients who had regular follow-up appointments at Fahad Bin Jassim Kidney Center in Qatar were enrolled. Data were analyzed descriptively and inferentially using SPSS version-24. Results Two hundred-eighty CKD patients (HD = 223 and pre-dialysis = 57) were included in the analyses (response rate 60.9%). Approximately 35% of the participants reported moderate to high treatment-related burden (TBQ global score 51–150). HD patients experienced significantly higher treatment burden compared to pre-dialysis patients with a median (IQR) score of 45 (36) versus 25 (33), respectively (p < 0.001). Medication burden and lifestyle changes burden were the highest perceived treatment-related burden. Overall, the perceived median (IQR) HR-QOL measured using the KDQOL-36™ among the participants was 2280.6 (1096.2) compared to the maximum global score of 3600. Similarly, the HD patients demonstrated significantly lower HR-QOL compared to the pre-dialysis patients [median (IQR) score of 2140 (1100) vs. 2930 (995), respectively; p < 0.001). There was a strong negative correlation between TBQ score and KDQOL-36™ score [rs (251) = −0.616, p < 0.001], signifying that HR-QOL decreases as treatment burden increases. Conclusions This study suggests that a considerable proportion of CKD patients suffered from treatment-related burden and deterioration in HR-QOL at a varying degree of seriousness. HD patients experienced significantly higher burden of treatment and lower HR-QOL compared to pre-dialysis patients and that HR-QOL declines as treatment burden increases. Therefore, treatment-related burden should be considered in CKD management and factors that increase it should be considered when designing healthcare interventions directed to CKD patients. This research was funded by Qatar University under Student Grant number QUST-CPH-SPR/2017-19 [Approved amount QAR 20,000.00 (~US$ 5,480)]. The funders had no role in the design, planning, and implementation of the study. The content is the sole responsibility of the authors. Scopus

Published
2021

5. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

Author

Asano, T, Boisson, B, Onodi, F, Matuozzo, D, Moncada-Velez, M, Maglorius Renkilaraj, M, Zhang, P, Meertens, L, Bolze, A, Materna, M, Korniotis, S, Gervais, A, Talouarn, E, Bigio, B, Seeleuthner, Y, Bilguvar, K, Zhang, Y, Neehus, A, Ogishi, M, Pelham, S, Le Voyer, T, Rosain, J, Philippot, Q, Soler-Palacín, P, Colobran, R, Martin-Nalda, A, Rivière, J, Tandjaoui-Lambiotte, Y, Chaïbi, K, Shahrooei, M, Darazam, I, Olyaei, N, Mansouri, D, Hatipoğlu, N, Palabiyik, F, Ozcelik, T, Novelli, G, Novelli, A, Casari, G, Aiuti, A, Carrera, P, Bondesan, S, Barzaghi, F, Rovere-Querini, P, Tresoldi, C, Franco, J, Rojas, J, Reyes, L, Bustos, I, Arias, A, Morelle, G, Christèle, K, Troya, J, Planas-Serra, L, Schlüter, A, Gut, M, Pujol, A, Allende, L, Rodriguez-Gallego, C, Flores, C, Cabrera-Marante, O, Pleguezuelo, D, de Diego, R, Keles, S, Aytekin, G, Akcan, O, Bryceson, Y, Bergman, P, Brodin, P, Smole, D, Smith, C, Norlin, A, Campbell, T, Covill, L, Hammarström, L, Pan-Hammarström, Q, Abolhassani, H, Mane, S, Marr, N, Ata, M, Al Ali, F, Khan, T, Spaan, A, Dalgard, C, Bonfanti, P, Biondi, A, Tubiana, S, Burdet, C, Nussbaum, R, Kahn-Kirby, A, Snow, A, Bustamante, J, Puel, A, Boisson-Dupuis, S, Zhang, S, Béziat, V, Lifton, R, Bastard, P, Notarangelo, L, Abel, L, Su, H, Jouanguy, E, Amara, A, Soumelis, V, Cobat, A, Zhang, Q, Casanova, J, Asano, Takaki, Boisson, Bertrand, Onodi, Fanny, Matuozzo, Daniela, Moncada-Velez, Marcela, Maglorius Renkilaraj, Majistor Raj Luxman, Zhang, Peng, Meertens, Laurent, Bolze, Alexandre, Materna, Marie, Korniotis, Sarantis, Gervais, Adrian, Talouarn, Estelle, Bigio, Benedetta, Seeleuthner, Yoann, Bilguvar, Kaya, Zhang, Yu, Neehus, Anna-Lena, Ogishi, Masato, Pelham, Simon J., Le Voyer, Tom, Rosain, Jérémie, Philippot, Quentin, Soler-Palacín, Pere, Colobran, Roger, Martin-Nalda, Andrea, Rivière, Jacques G., Tandjaoui-Lambiotte, Yacine, Chaïbi, Khalil, Shahrooei, Mohammad, Darazam, Ilad Alavi, Olyaei, Nasrin Alipour, Mansouri, Davood, Hatipoğlu, Nevin, Palabiyik, Figen, Ozcelik, Tayfun, Novelli, Giuseppe, Novelli, Antonio, Casari, Giorgio, Aiuti, Alessandro, Carrera, Paola, Bondesan, Simone, Barzaghi, Federica, Rovere-Querini, Patrizia, Tresoldi, Cristina, Franco, Jose Luis, Rojas, Julian, Reyes, Luis Felipe, Bustos, Ingrid G., Arias, Andres Augusto, Morelle, Guillaume, Christèle, Kyheng, Troya, Jesús, Planas-Serra, Laura, Schlüter, Agatha, Gut, Marta, Pujol, Aurora, Allende, Luis M., Rodriguez-Gallego, Carlos, Flores, Carlos, Cabrera-Marante, Oscar, Pleguezuelo, Daniel E., de Diego, Rebeca Pérez, Keles, Sevgi, Aytekin, Gokhan, Akcan, Ozge Metin, Bryceson, Yenan T., Bergman, Peter, Brodin, Petter, Smole, Daniel, Smith, C. I. Edvard, Norlin, Anna-Carin, Campbell, Tessa M., Covill, Laura E., Hammarström, Lennart, Pan-Hammarström, Qiang, Abolhassani, Hassan, Mane, Shrikant, Marr, Nico, Ata, Manar, Al Ali, Fatima, Khan, Taushif, Spaan, András N., Dalgard, Clifton L., Bonfanti, Paolo, Biondi, Andrea, Tubiana, Sarah, Burdet, Charles, Nussbaum, Robert, Kahn-Kirby, Amanda, Snow, Andrew L., Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Zhang, Shen-Ying, Béziat, Vivien, Lifton, Richard P., Bastard, Paul, Notarangelo, Luigi D., Abel, Laurent, Su, Helen C., Jouanguy, Emmanuelle, Amara, Ali, Soumelis, Vassili, Cobat, Aurélie, Zhang, Qian, Casanova, Jean-Laurent, Asano, T, Boisson, B, Onodi, F, Matuozzo, D, Moncada-Velez, M, Maglorius Renkilaraj, M, Zhang, P, Meertens, L, Bolze, A, Materna, M, Korniotis, S, Gervais, A, Talouarn, E, Bigio, B, Seeleuthner, Y, Bilguvar, K, Zhang, Y, Neehus, A, Ogishi, M, Pelham, S, Le Voyer, T, Rosain, J, Philippot, Q, Soler-Palacín, P, Colobran, R, Martin-Nalda, A, Rivière, J, Tandjaoui-Lambiotte, Y, Chaïbi, K, Shahrooei, M, Darazam, I, Olyaei, N, Mansouri, D, Hatipoğlu, N, Palabiyik, F, Ozcelik, T, Novelli, G, Novelli, A, Casari, G, Aiuti, A, Carrera, P, Bondesan, S, Barzaghi, F, Rovere-Querini, P, Tresoldi, C, Franco, J, Rojas, J, Reyes, L, Bustos, I, Arias, A, Morelle, G, Christèle, K, Troya, J, Planas-Serra, L, Schlüter, A, Gut, M, Pujol, A, Allende, L, Rodriguez-Gallego, C, Flores, C, Cabrera-Marante, O, Pleguezuelo, D, de Diego, R, Keles, S, Aytekin, G, Akcan, O, Bryceson, Y, Bergman, P, Brodin, P, Smole, D, Smith, C, Norlin, A, Campbell, T, Covill, L, Hammarström, L, Pan-Hammarström, Q, Abolhassani, H, Mane, S, Marr, N, Ata, M, Al Ali, F, Khan, T, Spaan, A, Dalgard, C, Bonfanti, P, Biondi, A, Tubiana, S, Burdet, C, Nussbaum, R, Kahn-Kirby, A, Snow, A, Bustamante, J, Puel, A, Boisson-Dupuis, S, Zhang, S, Béziat, V, Lifton, R, Bastard, P, Notarangelo, L, Abel, L, Su, H, Jouanguy, E, Amara, A, Soumelis, V, Cobat, A, Zhang, Q, Casanova, J, Asano, Takaki, Boisson, Bertrand, Onodi, Fanny, Matuozzo, Daniela, Moncada-Velez, Marcela, Maglorius Renkilaraj, Majistor Raj Luxman, Zhang, Peng, Meertens, Laurent, Bolze, Alexandre, Materna, Marie, Korniotis, Sarantis, Gervais, Adrian, Talouarn, Estelle, Bigio, Benedetta, Seeleuthner, Yoann, Bilguvar, Kaya, Zhang, Yu, Neehus, Anna-Lena, Ogishi, Masato, Pelham, Simon J., Le Voyer, Tom, Rosain, Jérémie, Philippot, Quentin, Soler-Palacín, Pere, Colobran, Roger, Martin-Nalda, Andrea, Rivière, Jacques G., Tandjaoui-Lambiotte, Yacine, Chaïbi, Khalil, Shahrooei, Mohammad, Darazam, Ilad Alavi, Olyaei, Nasrin Alipour, Mansouri, Davood, Hatipoğlu, Nevin, Palabiyik, Figen, Ozcelik, Tayfun, Novelli, Giuseppe, Novelli, Antonio, Casari, Giorgio, Aiuti, Alessandro, Carrera, Paola, Bondesan, Simone, Barzaghi, Federica, Rovere-Querini, Patrizia, Tresoldi, Cristina, Franco, Jose Luis, Rojas, Julian, Reyes, Luis Felipe, Bustos, Ingrid G., Arias, Andres Augusto, Morelle, Guillaume, Christèle, Kyheng, Troya, Jesús, Planas-Serra, Laura, Schlüter, Agatha, Gut, Marta, Pujol, Aurora, Allende, Luis M., Rodriguez-Gallego, Carlos, Flores, Carlos, Cabrera-Marante, Oscar, Pleguezuelo, Daniel E., de Diego, Rebeca Pérez, Keles, Sevgi, Aytekin, Gokhan, Akcan, Ozge Metin, Bryceson, Yenan T., Bergman, Peter, Brodin, Petter, Smole, Daniel, Smith, C. I. Edvard, Norlin, Anna-Carin, Campbell, Tessa M., Covill, Laura E., Hammarström, Lennart, Pan-Hammarström, Qiang, Abolhassani, Hassan, Mane, Shrikant, Marr, Nico, Ata, Manar, Al Ali, Fatima, Khan, Taushif, Spaan, András N., Dalgard, Clifton L., Bonfanti, Paolo, Biondi, Andrea, Tubiana, Sarah, Burdet, Charles, Nussbaum, Robert, Kahn-Kirby, Amanda, Snow, Andrew L., Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Zhang, Shen-Ying, Béziat, Vivien, Lifton, Richard P., Bastard, Paul, Notarangelo, Luigi D., Abel, Laurent, Su, Helen C., Jouanguy, Emmanuelle, Amara, Ali, Soumelis, Vassili, Cobat, Aurélie, Zhang, Qian, and Casanova, Jean-Laurent

Abstract

Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare, biochemically deleterious X-linked TLR7 variants in 16 unrelated male individuals aged 7 to 71 years (mean: 36.7 years) from a cohort of 1,202 male patients aged 0.5 to 99 years (mean: 52.9 years) with unexplained critical COVID-19 pneumonia. None of the 331 asymptomatically or mildly infected male individuals aged 1.3 to 102 years (mean: 38.7 years) tested carry such TLR7 variants (p = 3.5 × 10−5). The phenotypes of five hemizygous relatives of index cases infected with SARS-CoV-2 include asymptomatic or mild infection (n=2, 5 and 38 years), or moderate (n=1, 5 years), severe (n=1, 27 years), or critical (n=1, 29 years) pneumonia. Two boys (aged 7 and 12 years) from a cohort of 262 male patients with severe COVID-19 pneumonia (mean: 51.0 years) are hemizygous for a deleterious TLR7 variant. The cumulative allele frequency for deleterious TLR7 variants in the male general population is < 6.5x10−4. We also show that blood B cell lines and myeloid cell subsets from the patients do not respond to TLR7 stimulation, a phenotype rescued by wild-type TLR7. The patients’ blood plasmacytoid dendritic cells (pDCs) produce low levels of type I IFNs in response to SARS-CoV-2. Overall, X-linked recessive TLR7 deficiency is a highly penetrant genetic etiology of critical COVID-19 pneumonia, in about 1.8% of male patients below the age of 60 years. Human TLR7 and pDCs are essential for protective type I IFN immunity against SARS-CoV-2 in the respiratory tract.

Published
2021

8. A multi-domain SDN for dynamic layer-2 path service

Author

Tepsuporn, S., primary, Al-Ali, F., additional, Veeraraghavan, M., additional, Ji, X., additional, Cashman, B., additional, Ragusa, A. J., additional, Fowler, L., additional, Guok, C., additional, Lehman, T., additional, and Yang, X., additional

Published
2015
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10. DIALYSIS BONE DISEASE

Author

Fusaro, M., primary, Giannini, S., additional, Miozzo, D., additional, Noale, M., additional, Tripepi, G., additional, Plebani, M., additional, Zaninotto, M., additional, Piccoli, A., additional, Vilei, M. T., additional, Cristofaro, R., additional, Gallieni, M., additional, Hamamoto, K., additional, Inaba, M., additional, Okuno, S., additional, Imanishi, Y., additional, Ishimura, E., additional, Yamakawa, T., additional, Shoji, S., additional, Rothe, H. M., additional, Eller, P., additional, Mayer, G., additional, Ketteler, M., additional, Kramar, R., additional, Shaheen, F., additional, Al Rukhaimi, M., additional, Alsahow, A., additional, Al-Ali, F., additional, Al Salmi, I., additional, Al Ghareeb, S., additional, Wang, M., additional, Bieber, B., additional, Robinson, B. M., additional, Pisoni, R. L., additional, Waniewski, J., additional, Debowska, M., additional, Wojcik-Zaluska, A., additional, Ksiazek, A., additional, Zaluska, W., additional, De Broe, M. E., additional, Wilson, R. J., additional, Copley, J. B., additional, Hiramtasu, R., additional, Ubara, Y., additional, Hoshino, J., additional, Takaichi, K., additional, Ghalli, F. G., additional, Ibakkanavar, R., additional, Chess, J., additional, Roberts, G., additional, Riley, S., additional, Oliveira, A. S. A., additional, Carvalho, C. J. B., additional, Oliveira, C. B. L., additional, Pessoa, C. T. B. C., additional, Leao, R. A. S., additional, Gueiros, J. E. B., additional, Gueiros, A. P. S., additional, Okano, K., additional, Tsuruta, Y., additional, Hibi, A., additional, Tsukada, M., additional, Miwa, N., additional, Kimata, N., additional, Tsuchiya, K., additional, Akiba, T., additional, Nitta, K., additional, Mizobuchi, M., additional, Ogata, H., additional, Hosaka, N., additional, Sanada, D., additional, Arai, N., additional, Koiwa, F., additional, Kinugasa, E., additional, Shibata, T., additional, Akizawa, T., additional, Delanaye, P., additional, Krzesinski, J.-M., additional, Warling, X., additional, Moonen, M., additional, Smelten, N., additional, Medart, L., additional, Pottel, H., additional, Cavalier, E., additional, Souberbielle, J.-C., additional, Gadisseur, R., additional, Dubois, B. E., additional, Matias, P., additional, Jorge, C., additional, Mendes, M., additional, Azevedo, A., additional, Navarro, D., additional, Ferreira, C., additional, Amaral, T., additional, Aires, I., additional, Gil, C., additional, Ferreira, A., additional, Kikuchi, H., additional, Shimada, H., additional, Karasawa, R., additional, Suzuki, M., additional, An, W. S., additional, Lee, S. M., additional, Oh, Y. J., additional, Son, Y. K., additional, De Paola, L., additional, Lombardi, G., additional, Panzino, M. T., additional, Lombardi, L., additional, Reichel, H., additional, Hahn, K.-M., additional, Kohnle, M., additional, Guggenberger, C., additional, Delanna, F., additional, Sasaki, N., additional, Tsunoda, M., additional, Ikee, R., additional, Hashimoto, N., additional, Sola, L., additional, Leyun, M. N., additional, Diaz, J. C., additional, Sehabiague, C., additional, Gonzalez, S., additional, Alallon, W., additional, Bourbeau, K., additional, Lajoie, C., additional, Macway, F., additional, Fujii, T., additional, Suzuki, S., additional, Shinozaki, M., additional, Tanaka, H., additional, Klingele, M., additional, Seiler, S., additional, Poppleton, A., additional, Lepper, P., additional, Fliser, D., additional, Seidel, R., additional, Lun, L., additional, Liu, D., additional, Li, X., additional, Wei, X., additional, Miao, J., additional, Gao, Z., additional, Hu, R., additional, Gros, B., additional, Galan, A., additional, Gonzalez-Parra, E., additional, Herrero, J. A., additional, Echave, M., additional, Vegter, S., additional, Tolley, K., additional, Oyaguez, I., additional, Gutzwiller, F. S., additional, Braunhofer, P. G., additional, Szucs, T. D., additional, Schwenkglenks, M., additional, Yilmaz, V. T., additional, Ozdem, S., additional, Donmez, L., additional, Kocak, H., additional, Dinckan, A., additional, Cetinkaya, R., additional, Suleymanlar, G., additional, and Ersoy, F. F., additional

Published
2014
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30. Imported malaria in Kuwait (1985-2000).

Author

Iqbal J, Al-Ali F, Sher A, Hira PR, Iqbal, Jamshaid, Hira, Parsotam R, Al-Ali, Faiza, and Sher, Ali

Abstract

Background: The objective of this study was to document the status of malaria infection and effect of preventive measures on the epidemiologic profile of imported malaria cases in Kuwait during 1985-2000.Methods: The study included screening of two groups of individuals for malaria infection by microscopy; (1) all migrant workers from malaria-endemic countries on their first entry to Kuwait; and (2) all suspected malaria cases already residing in the country. The study period was divided into pre-war (1985-1990), postwar (1992-1997) and proactive preventive (1998-2000) periods. During the proactive preventive period, the home countries were also involved in screening for malaria infection in all prospective immigrants to Kuwait.Results: The annual incidence of malaria cases detected during the pre-war, postwar and proactive preventive periods ranged between 465 and 1,229, 654 and 1,379, and 248 and 393, respectively. Plasmodium vivax infection was detected in 71% of the cases and P. falciparum in 27%. The number of malaria cases detected increased to >1,300 after the war during 1992-1993. However, the number of malaria cases dropped significantly to less than 400 during 1998-2000 (p80%) of malaria patients were young male adults between 21 and 40 years of age. The data on drug resistance were not well defined, due to limited testing.Conclusion: This study suggests that the proactive preventive program to screen all prospective immigrants for malaria infection in their home countries significantly reduced the numbers of imported infections to <400 cases/year, a drop of 52.6%. In addition, it also identified a group of settled immigrants, the majority of whom were at high risk for acquisition of malaria infection during their visit to home countries. There is an urgent need to target this group for prevention strategies such as education/information and other preventive measures against malaria infection. [ABSTRACT FROM AUTHOR]

Published
2003

31. Sprouting and Growth of Purple Nutsedge, Cyperus rotundus, in Relation to pH and Aeration.

Author

Al-Ali, F. A., Shamsi, S. R. A., and Hussain, S. M.

Subjects
*NUTGRASS, *SPROUTS, *PLANT growth, *PLANT physiology, *PLANT shoots, *SEEDLINGS
Abstract

The results of experiments on the sprouting and growth of purple nutsedge (Cyperus rotundus L.) in relation to pH and aeration are described. All pH levels between 2.2 to 9.0 allowed high sprouting percentage but the sprouted tubers did not survive at pH below 3 and survival beyond pH 7 was very poor. Post- sprouting growth of nutsedge was optimal at pH 4. Pre-sprouting aeration of tubers stimulated early sprouting and produced vigorous shoots, whereas submersion of the tubers was inhibitory. Continuous aeration of the submerged tubers substantially removed the inhibitory influence on sprouting but the shoots remained weak. Seedlings grown in constantly aerated nutrient solution showed significantly better growth than in a non-aerated one.

Published
1978
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32. Temperature and Light Requirements for the Sprouting of Chilled and Unchilled Tubers of the Purple Nutsedge, Cyperus rotundus.

Author

Shamsi, S. R. A., Al-Ali, F. A., and Hussain, S. M.

Subjects
*TEMPERATURE, *NUTGRASS, *CYPERUS, *TUBERS, *PLANT stems, *ECOLOGY
Abstract

Mature and immature tubers of purple nutsedge (Cyperus rotundus L.) chilled at 0°C in dry and wet conditions, were sprouted along with fresh, unchilled tubers over a range of temperatures (10°C-45°C) in light and darkness. Fresh immature tubers showed a high sprouting percentage at all temperatures between 20°C and 40°C, while the mature ones did so only at 30°C and 35°C. Chilling of dry tubers stimulated early sprouting and increased the maximum sprouting percentage of both the mature and immature tubers. Dry chilling also lowered the limit of favourable temperatures to 15°C in the case of mature tubers. Chilling of wet tubers had a depressing effect and no sprouting occurred below 30° C. At all temperatures, light apparently favoured the sprouting of both the mature and immature tubers (except mature wet-chilled ones at 35°C and 40°C). Immature tubers showed relatively higher sprouting percentage than the mature ones, both in light and darkness. Alteration of temperature requirements due to dry and wet chilling of the tubers is regarded as significant and functional in relation to the ecology of the species. [ABSTRACT FROM AUTHOR]

Published
1978
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34. New Catanionic Amphiphiles Derived from the Associative Systems (α-Hydroxyalkyl)-phosphinic or (α-Hydroxyalkyl)-phosphonic Acid/Cetyltrimethylammonium Hydroxide. Preparation, Characterization, and Self-Organization Properties

Author

Al-Ali, F., Brun, A., Rodrigues, F., Etemad-Moghadam, G., and Rico-Lattes, I.

Abstract

New phosphorous catanionic amphiphiles were easily prepared by an acid−base reaction between (α-hydroxyalkyl)-phosphinic or -phosphonic acid and cethyltrimethylammonium hydroxide. In this way, we obtained, in nearly quantitative yields, bicatenary phosphinates and bicatenary and tricatenary phosphonates. The aggregation properties of these new catanionic amphiphiles were investigated at low concentrations in water (ranging from 1 to 5 mM), focusing in particular on spontaneous formation of different aggregate morphologies (vesicles, ribbons, tubules). Light and electron microscopy was used to identify the aggregate morphology of the catanionic amphiphiles. Moreover, these catanionic amphiphiles were able to organize into ordered lyotropic mesophases in concentrated water solutions, visualized by optical polarizing microscopy. Finally, the phosphorous catanionic amphiphiles, without rigid cores, were unexpectedly found to show thermotropic liquid-crystalline behavior. The various thermotropic mesophases were characterized by the formation of optical textures. Rigidification by ionic interactions could promote the formation of these thermotropic mesophases.

Published
2003

36. Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy

Author

Beziat, V, primary, Rapaport, F, additional, Hu, J, additional, Titeux, M, additional, des Claustres, MB, additional, Bourgey, M, additional, Griffin, H, additional, Bandet, E, additional, Ma, CS, additional, Sherkat, R, additional, Rokni-Zadeh, H, additional, Louis, DM, additional, Changi-Ashtiani, M, additional, Delmonte, OM, additional, Fukushima, T, additional, Habib, T, additional, Guennoun, A, additional, Khan, T, additional, Bender, N, additional, Rahman, M, additional, About, F, additional, Yang, R, additional, Rao, G, additional, Rouzaud, C, additional, Li, J, additional, Shearer, D, additional, Balogh, K, additional, Al Ali, F, additional, Ata, M, additional, Dabiri, S, additional, Momenilandi, M, additional, Nammour, J, additional, Alyanakian, M, additional, Leruez-Ville, M, additional, Guenat, D, additional, Materna, M, additional, Marcot, L, additional, Vladikine, N, additional, Soret, S, additional, Vahidnezhad, H, additional, Youssefian, L, additional, Saeidian, AH, additional, Uitto, J, additional, Catherinot, E, additional, Navabi, SS, additional, Zarhrate, M, additional, Woodley, DT, additional, Jeljeli, M, additional, Abraham, T, additional, Merghoub, T, additional, Belkaya, S, additional, Lorenzo, L, additional, Rosain, J, additional, Bayat, M, additional, Lanternier, F, additional, Lortholary, O, additional, Zakavi, F, additional, Gros, P, additional, Orth, G, additional, Abel, L, additional, Pretet, J, additional, Fraitag, S, additional, Jouanguy, E, additional, Davis, MD, additional, Tangye, SG, additional, Notarangelo, LD, additional, Marr, N, additional, Waterboer, T, additional, Langlais, D, additional, Doorbar, J, additional, Hovanian, A, additional, Christensen, N, additional, Bossuyt, X, additional, Shahrooei, M, additional, and Casanova, J, additional

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37. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

Author

Asano, Takaki, Boisson, Bertrand, Onodi, Fanny, Matuozzo, Daniela, Moncada-Velez, Marcela, Maglorius Renkilaraj, Majistor Raj Luxman, Zhang, Peng, Meertens, Laurent, Bolze, Alexandre, Materna, Marie, Korniotis, Sarantis, Gervais, Adrian, Talouarn, Estelle, Bigio, Benedetta, Seeleuthner, Yoann, Bilguvar, Kaya, Zhang, Yu, Neehus, Anna-Lena, Ogishi, Masato, Pelham, Simon J., Le Voyer, Tom, Rosain, Jérémie, Philippot, Quentin, Soler-Palacín, Pere, Colobran, Roger, Martin-Nalda, Andrea, Rivière, Jacques G., Tandjaoui-Lambiotte, Yacine, Chaïbi, Khalil, Shahrooei, Mohammad, Darazam, Ilad Alavi, Olyaei, Nasrin Alipour, Mansouri, Davood, Hatipoğlu, Nevin, Palabiyik, Figen, Ozcelik, Tayfun, Novelli, Giuseppe, Novelli, Antonio, Casari, Giorgio, Aiuti, Alessandro, Carrera, Paola, Bondesan, Simone, Barzaghi, Federica, Rovere-Querini, Patrizia, Tresoldi, Cristina, Franco, Jose Luis, Rojas, Julian, Reyes, Luis Felipe, Bustos, Ingrid G., Arias, Andres Augusto, Morelle, Guillaume, Kyheng, Christèle, Troya, Jesús, Planas-Serra, Laura, Schlüter, Agatha, Gut, Marta, Pujol, Aurora, Allende, Luis M., Rodriguez-Gallego, Carlos, Flores, Carlos, Cabrera-Marante, Oscar, Pleguezuelo, Daniel E., Pérez de Diego, Rebeca, Keles, Sevgi, Aytekin, Gokhan, Metin Akcan, Ozge, Bryceson, Yenan T., Bergman, Peter, Brodin, Petter, Smole, Daniel, Smith, C. I. Edvard, Norlin, Anna-Carin, Campbell, Tessa M., Covill, Laura E., Hammarström, Lennart, Pan-Hammarström, Qiang, Abolhassani, Hassan, Mane, Shrikant, Marr, Nico, Ata, Manar, Al Ali, Fatima, Khan, Taushif, Spaan, András N., Dalgard, Clifton L., Bonfanti, Paolo, Biondi, Andrea, Tubiana, Sarah, Burdet, Charles, Nussbaum, Robert, Kahn-Kirby, Amanda, Snow, Andrew L., Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Zhang, Shen-Ying, Béziat, Vivien, Lifton, Richard P., Bastard, Paul, Notarangelo, Luigi D., Abel, Laurent, Su, Helen C., Jouanguy, Emmanuelle, Amara, Ali, Soumelis, Vassili, Cobat, Aurélie, Zhang, Qian, Casanova, Jean-Laurent, Al-Muhsen, Saleh, Al-Mulla, Fahd, Anderson, Mark S., Andreakos, Evangelos, Arias, Andrés A., Feldman, Hagit Baris, Belot, Alexandre, Biggs, Catherine M., Bogunovic, Dusan, Bondarenko, Anastasiia, Bousfiha, Ahmed A., Bryceson, Yenan, Bustamante, Carlos D., Butte, Manish J., Chakravorty, Samya, Christodoulou, John, Condino-Neto, Antonio, Constantinescu, Stefan N., Cooper, Megan A., Desai, Murkesh, Drolet, Beth A., El Baghdadi, Jamila, Espinosa-Padilla, Sara, Fellay, Jacques, Franco, José Luis, Froidure, Antoine, Gregersen, Peter K., Haerynck, Filomeen, Hagin, David, Halwani, Rabih, Heath, James R., Henrickson, Sarah E., Hsieh, Elena W.Y., Husebye, Eystein, Imai, Kohsuke, Itan, Yuval, Jarvis, Erich D., Karamitros, Timokratis, Kisand, Kai, Ku, Cheng-Lung, Lau, Yu-Lung, Ling, Yun, Lucas, Carrie L., Maniatis, Tom, Maródi, László, Meyts, Isabelle, Milner, Joshua D., Mironska, Kristina, Mogensen, Trine H., Morio, Tomohiro, Ng, Lisa F.P., O'Farrelly, Cliona, Okada, Satoshi, de Diego, Rebeca Perez, Planas, Anna M., Prando, Carolina, Quintana-Murci, Lluis, Renia, Laurent, Resnick, Igor, Rodríguez-Gallego, Carlos, Sancho-Shimizu, Vanessa, Sediva, Anna, Seppänen, Mikko R.J., Shahrooei, Mohammed, Shcherbina, Anna, Slaby, Ondrej, Tancevski, Ivan, Tangye, Stuart G., Abou Tayoun, Ahmad, Ramaswamy, Sathishkumar, Turvey, Stuart E, Uddin, K M Furkan, Uddin, Mohammed J., van de Beek, Diederik, Vinh, Donald C., von Bernuth, Horst, Zatz, Mayana, Zawadzki, Pawel, Foti, Giuseppe, Bellani, Giacomo, Citerio, Giuseppe, Contro, Ernesto, Pesci, Alberto, Valsecchi, Maria Grazia, Cazzaniga, Marina, Abad, Jorge, Accordino, Giulia, Achille, Cristian, Aguilera-Albesa, Sergio, Aguiló-Cucurull, Aina, Özkan, Esra Akyüz, Roblero Albisures, Jonathan Antonio, Aldave, Juan C, Ramos, Miquel Alfonso, Khan, Taj Ali, Aliberti, Anna, Nadji, Seyed Alireza, Alkan, Gulsum, AlKhater, Suzan A., Allardet-Servent, Jerome, Allende, Luis M, Alonso-Arias, Rebeca, Alshahrani, Mohammed S, Alsina, Laia, Alyanakian, Marie-Alexandra, Borrero, Blanca Amador, Amoura, Zahir, Antolí, Arnau, Arrestier, Romain, Aubart, Mélodie, Auguet, Teresa, Avramenko, Iryna, Aytekin, Gökhan, Azot, Axelle, Bahram, Seiamak, Bajolle, Fanny, Baldanti, Fausto, Baldolli, Aurélie, Ballester, Maite, Barrou, Benoit, Barzagh, Federica, Basso, Sabrina, Bayhan, Gulsum Iclal, Bezrodnik, Liliana, Bilbao, Agurtzane, Blanchard-Rohner, Geraldine, Blanco, Ignacio, Blandinières, Adeline, Blázquez-Gamero, Daniel, Bleibtreu, Alexandre, Bloomfield, Marketa, Bolivar-Prados, Mireia, Borghesi, Alessandro, Borie, Raphael, Botdhlo-Nevers, Elisabeth, Bousfiha, Ahmed A, Bousquet, Aurore, Boutolleau, David, Bouvattier, Claire, Boyarchuk, Oksana, Bravais, Juliette, Briones, M. Luisa, Brunner, Marie-Eve, Bruno, Raffaele, Bueno, Maria Rita P, Bukhari, Huda, Cáceres Agra, Juan José, Capra, Ruggero, Carapito, Raphael, Carrabba, Maria, Casasnovas, Carlos, Caseris, Marion, Cassaniti, Irene, Castelle, Martin, Castelli, Francesco, de Vera, Martín Castillo, Castro, Mateus V, Catherinot, Emilie, Celik, Jale Bengi, Ceschi, Alessandro, Chalumeau, Martin, Charbit, Bruno, Cheng, Matthew P., Clavé, Père, Clotet, Bonaventura, Codina, Anna, Cohen, Yves, Comarmond, Cloé, Combes, Alain, Comoli, Patrizia, Corsico, Angelo G, Coşkuner, Taner, Cvetkovski, Aleksandar, Cyrus, Cyril, Dalmau, David, Danion, François, Darley, David Ross, Das, Vincent, Dauby, Nicolas, Dauger, Stéphane, De Munter, Paul, de Pontual, Loic, Dehban, Amin, Delplancq, Geoffroy, Demoule, Alexandre, Desguerre, Isabelle, Di Sabatino, Antonio, Diehl, Jean-Luc, Dobbelaere, Stephanie, Domínguez-Garrido, Elena, Dubost, Clément, Ekwall, Olov, Bozdemir, Şefika Elmas, Elnagdy, Marwa H, Emiroglu, Melike, Endo, Akifumi, Erdeniz, Emine Hafize, Aytekin, Selma Erol, Lasa, Maria Pilar Etxart, Euvrard, Romain, Fabio, Giovanna, Faivre, Laurence, Falck, Antonin, Fartoukh, Muriel, Faure, Morgane, Arquero, Miguel Fernandez, Ferrer, Ricard, Ferreres, Jose, Francois, Bruno, Fumadó, Victoria, Fung, Kitty S C, Fusco, Francesca, Gagro, Alenka, Solis, Blanca Garcia, Gaussem, Pascale, Gayretli, Zeynep, Gil-Herrera, Juana, Gilardin, Laurent, Gatineau, Audrey Giraud, Girona-Alarcón, Mònica, Cifuentes Godínez, Karen Alejandra, Goffard, Jean-Christophe, Gonzales, Nacho, Gonzalez-Granado, Luis I, González-Montelongo, Rafaela, Guerder, Antoine, Gülhan, Belgin, Gumucio, Victor Daniel, Hanitsch, Leif Gunnar, Gunst, Jan, Hadjadj, Jérôme, Hancerli, Selda, Hariyan, Tetyana, Hatipoglu, Nevin, Heppekcan, Deniz, Hernandez-Brito, Elisa, Ho, Po-ki, Holanda-Peña, María Soledad, Horcajada, Juan P, Hraiech, Sami, Humbert, Linda, Hung, Ivan F N, Iglesias, Alejandro D., Íñigo-Campos, Antonio, Jamme, Matthieu, Arranz, María Jesús, Jimeno, Marie-Thérèse, Jordan, Iolanda, Yüksek, Saliha Kanık, Kara, Yalcin Burak, Karahan, Aydın, Karbuz, Adem, Yasar, Kadriye Kart, Kasapcopur, Ozgur, Kashimada, Kenichi, Demirkol, Yasemin Kendir, Kido, Yasutoshi, Kizil, Can, Kılıç, Ahmet Osman, Klocperk, Adam, Koutsoukou, Antonia, Król, Zbigniew J., Ksouri, Hatem, Kuentz, Paul, Kwan, Arthur M C, Kwan, Yat Wah M, Kwok, Janette S Y, Lagier, Jean-Christophe, Lam, David S Y, Lampropoulou, Vicky, Lanternier, Fanny, LAU, Yu-Lung, Le Bourgeois, Fleur, Leo, Yee-Sin, Lopez, Rafael Leon, Leung, Daniel, Levin, Michael, Levy, Michael, Lévy, Romain, Li, Zhi, Lilleri, Daniele, Bolanos Lima, Edson Jose Adrian, Linglart, Agnes, López-Collazo, Eduardo, Lorenzo-Salazar, José M., Louapre, Céline, Lubetzki, Catherine, Lung, Kwok-Cheung, Luyt, Charles-Edouard, Lye, David C, Magnone, Cinthia, Marchioni, Enrico, Marioli, Carola, Marjani, Majid, Marques, Laura, Pereira, Jesus Marquez, Martín-Nalda, Andrea, Pueyo, David Martínez, Martinez-Picado, Javier, Marzana, Iciar, Mata-Martínez, Carmen, Mathian, Alexis, Matos, Larissa RB, Matthews, Gail V, Mayaux, Julien, McLaughlin-Garcia, Raquel, Meersseman, Philippe, Mège, Jean-Louis, Mekontso-Dessap, Armand, Melki, Isabelle, Meloni, Federica, Meritet, Jean-François, Merlani, Paolo, Akcan, Özge Metin, Mezidi, Mehdi, Migeotte, Isabelle, Millereux, Maude, Million, Matthieu, Mirault, Tristan, Mircher, Clotilde, Mirsaeidi, Mehdi, Mizoguchi, Yoko, Modi, Bhavi P, Mojoli, Francesco, Moncomble, Elsa, Melián, Abián Montesdeoca, Martinez, Antonio Morales, Morandeira, Francisco, Morange, Pierre-Emmanuel, Mordacq, Cléemence, Mouly, Stéphane J, Muñoz-Barrera, Adrián, Nafati, Cyril, Nagashima, Shintaro, Nakagama, Yu, Neven, Bénédicte, Neves, João Farela, Ng, Lisa FP, Ng, Yuk-Yung, Nielly, Hubert, Medina, Yeray Novoa, Cuadros, Esmeralda Nuñez, Ocejo-Vinyals, J. Gonzalo, Okamoto, Keisuke, Oualha, Mehdi, Ouedrani, Amani, Özçelik, Tayfun, Ozkaya-Parlakay, Aslinur, Pagani, Michele, Papadaki, Maria, Parizot, Christophe, Parola, Philippe, Pascreau, Tiffany, Paul, Stéphane, Paz-Artal, Estela, Pedraza, Sigifredo, González Pellecer, Nancy Carolina, Pellegrini, Silvia, de Diego, Rebeca Pérez, Pérez-Fernández, Xosé Luis, Philippe, Aurélien, Picod, Adrien, de Chambrun, Marc Pineton, Piralla, Antonio, Ploin, Dominique, Poissy, Julien, Poncelet, Géraldine, Poulakou, Garyphallia, Pouletty, Marie S, Pourshahnazari, Persia, Qiu-Chen, Jia Li, Quentric, Paul, Rambaud, Thomas, Raoult, Didier, Raoult, Violette, Rebillat, Anne-Sophie, Redin, Claire, Resmini, Léa, Ricart, Pilar, Richard, Jean-Christophe, Rigo-Bonnin, Raúl, Rivet, Nadia, Rivière, Jacques G, Rocamora-Blanch, Gemma, Rodero, Mathieu P, Rodrigo, Carlos, Rodriguez, Luis Antonio, Rodriguez-Palmero, Agustí, Romero, Carolina Soledad, Rothenbuhler, Anya, Roux, Damien, Rovina, Nikoletta, Rozenberg, Flore, Ruch, Yvon, Ruiz, Montse, Ruiz del Prado, Maria Yolanda, Ruiz-Rodriguez, Juan Carlos, Sabater-Riera, Joan, Saks, Kai, Salagianni, Maria, Sanchez, Oliver, Sánchez-Montalvá, Adrián, Sánchez-Ramón, Silvia, Schidlowski, Laire, Schluter, Agatha, Schmidt, Julien, Schmidt, Matthieu, Schuetz, Catharina, Schweitzer, Cyril E, Scolari, Francesco, Seijo, Luis, Seminario, Analia Gisela, Sene, Damien, Seng, Piseth, Senoglu, Sevtap, Seppänen, Mikko, Llovich, Alex Serra, Siguret, Virginie, Siouti, Eleni, Smadja, David M, Smith, Nikaia, Sobh, Ali, Solanich, Xavier, Solé-Violán, Jordi, Soler, Catherine, Sözeri, Betül, Stella, Giulia Maria, Stepanovskiy, Yuriy, Stoclin, Annabelle, Taccone, Fabio, Taupin, Jean-Luc, Tavernier, Simon J, Tello, Loreto Vidaur, Terrier, Benjamin, Thiery, Guillaume, Thorball, Christian, Thorn, Karolina, Thumerelle, Caroline, Tipu, Imran, Tolstrup, Martin, Tomasoni, Gabriele, Toubiana, Julie, Alvarez, Josep Trenado, Triantafyllia, Vasiliki, Trouillet-Assant, Sophie, Tsang, Owen T Y, Tserel, Liina, Tso, Eugene Y K, Tucci, Alessandra, Tüter Öz, Şadiye Kübra, Ursini, Matilde Valeria, Utsumi, Takanori, Uzunhan, Yurdagul, Vabres, Pierre, Valencia-Ramos, Juan, Van Den Rym, Ana Maria, Vandernoot, Isabelle, Velez-Santamaria, Valentina, Zuniga Veliz, Silvia Patricia, Vidigal, Mateus C, Viel, Sébastien, Vilain, Cédric, Vilaire-Meunier, Marie E, Villar-García, Judit, Vincent, Audrey, Vogt, Guillaume, Voiriot, Guillaume, Volokha, Alla, Vuotto, Fanny, Wauters, Els, Wauters, Joost, Wu, Alan K L, Wu, Tak-Chiu, Yahşi, Aysun, Yesilbas, Osman, Yildiz, Mehmet, Young, Barnaby E, Yükselmiş, Ufuk, Zecca, Marco, Zuccaro, Valentina, Jens, Van Praet, Lambrecht, Bart N., Eva, Van Braeckel, Cédric, Bosteels, Levi, Hoste, Eric, Hoste, Bauters, Fré, De Clercq, Jozefien, Cathérine, Heijmans, Hans, Slabbynck, Leslie, Naesens, Florkin, Benoit, Boulanger, Cécile, Vanderlinden, Dimitri, Annereau, Jean-Philippe, Briseño-Roa, Luis, Gribouval, Olivier, Pelet, Anna, Andrejak, Claire, Angoulvant, François, Bachelet, Delphine, Bartoli, Marie, Basmaci, Romain, Behilill, Sylvie, Beluze, Marine, Benkerrou, Dehbia, Bhavsar, Krishna, Bouadma, Lila, Bouchez, Sabelline, Bouscambert, Maude, Cervantes-Gonzalez, Minerva, Chair, Anissa, Chirouze, Catherine, Coelho, Alexandra, Couffignal, Camille, Couffin-Cadiergues, Sandrine, d’Ortenzio, Eric, Debray, Marie-Pierre, Deconinck, Lauren, Deplanque, Dominique, Descamps, Diane, Desvallée, Mathilde, Diallo, Alpha, Diouf, Alphonsine, Dorival, Céline, Dubos, François, Duval, Xavier, Elharrar, Brigitte, Eloy, Philippine, Enouf, Vincent, Esperou, Hélène, Esposito-Farese, Marina, Etienne, Manuel, Devouge, Eglantine Ferrand, Gault, Nathalie, Gaymard, Alexandre, Ghosn, Jade, Gigante, Tristan, Gilg, Morgane, Guedj, Jérémie, Hoctin, Alexandre, Hoffmann, Isabelle, Houas, Ikram, Hulot, Jean-Sébastien, Jaafoura, Salma, Kafif, Ouifiya, Kaguelidou, Florentia, Kali, Sabrina, Khalil, Antoine, Khan, Coralie, Laouénan, Cédric, Laribi, Samira, Le, Minh, Le Hingrat, Quentin, Le Mestre, Soizic, Le Nagard, Hervé, Lescure, François-Xavier, Letrou, Sophie, Levy, Yves, Lina, Bruno, Lingas, Guillaume, Lucet, Jean Christophe, Malvy, Denis, Mambert, Marina, Mentré, France, Meziane, Amina, Mouquet, Hugo, Mullaert, Jimmy, Neant, Nadège, Nguyen, Duc, Noret, Marion, Nseir, Saad, Papadopoulos, Aurélie, Paul, Christelle, Peiffer-Smadja, Nathan, Perpoint, Thomas, Petrov-Sanchez, Ventzislava, Peytavin, Gilles, Pham, Huong, Picone, Olivier, Piquard, Valentine, Puéchal, Oriane, Rabaud, Christian, Rosa-Calatrava, Manuel, Rossignol, Bénédicte, Rossignol, Patrick, Roy, Carine, Schneider, Marion, Su, Richa, Tardivon, Coralie, Tellier, Marie-Capucine, Téoulé, François, Terrier, Olivier, Timsit, Jean-François, Tual, Christelle, Van Der Werf, Sylvie, Vanel, Noémie, Veislinger, Aurélie, Visseaux, Benoit, Wiedemann, Aurélie, Yazdanpanah, Yazdan, Alavoine, Loubna, Behillil, Sylvie, Charpentier, Charlotte, Dechanet, Aline, Ecobichon, Jean-Luc, Frezouls, Wahiba, Houhou, 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Marry, Stijnis, Cornelis S., Stilma, Willemke, Teunissen, Charlotte, Thoral, Patrick, Tsonas, Anissa M, Tuinman, Pieter R., van der Valk, Marc, Veelo, Denise, Volleman, Carolien, de Vries, Heder, Vught, Lonneke A., van Vugt, Michèle, Wouters, Dorien, Zwinderman, A. H (Koos), Brouwer, Matthijs C., Wiersinga, W. Joost, Vlaar, Alexander P.J., Tompkins, Miranda F., Alba, Camille, Hupalo, Daniel N., Rosenberger, John, Sukumar, Gauthaman, Wilkerson, Matthew D., Zhang, Xijun, Lack, Justin, Oler, Andrew J., Dobbs, Kerry, Delmonte, Ottavia M., Danielson, Jeffrey J., Bettini, Laura Rachele, D’Angio, Mariella, Beretta, Ilaria, Imberti, Luisa, Sottini, Alessandra, Quaresima, Virginia, Quiros-Roldan, Eugenia, Rossi, Camillo, Children's Hospital, HUS Children and Adolescents, Clinicum, Department of Medicine, UCL - SSS/IREC/PNEU - Pôle de Pneumologie, ORL et Dermatologie, AII - Infectious diseases, ANS - Neuroinfection & -inflammation, Neurology, Infectious diseases, Center of Experimental and Molecular Medicine, APH - Aging & Later Life, APH - Global Health, APH - Quality of Care, AII - Amsterdam institute for Infection and Immunity, APH - Health Behaviors & Chronic Diseases, Global Health, APH - Methodology, Graduate School, ACS - Heart failure & arrhythmias, Anesthesiology, ACS - Diabetes & metabolism, APH - Digital Health, APH - Personalized Medicine, ACS - Microcirculation, Laboratoire de Chimie et de Biochimie Pharmacologiques et Toxicologiques (LCBPT - UMR 8601), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Laboratory of Human Genetics of Infectious Diseases (Necker Branch - INSERM U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Rockefeller University [New York], Génomes, biologie cellulaire et thérapeutiques (GenCellDi (UMR_S_944)), Collège de France (CdF (institution))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Helix [San Mateo, CA], Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Özçelik, Tayfun, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pathology, Asano, T., Boisson, B., Onodi, F., Matuozzo, D., Moncada-Velez, M., Renkilaraj, M. R. L. M., Zhang, P., Meertens, L., Bolze, A., Materna, M., Korniotis, S., Gervais, A., Talouarn, E., Bigio, B., Seeleuthner, Y., Bilguvar, K., Zhang, Y., Neehus, A. -L., Ogishi, M., Pelham, S. J., Le Voyer, T., Rosain, J., Philippot, Q., Soler-Palacin, P., Colobran, R., Martin-Nalda, A., Riviere, J. G., Tandjaoui-Lambiotte, Y., Chaibi, K., Shahrooei, M., Darazam, I. A., Olyaei, N. A., Mansouri, D., Hatipoglu, N., Palabiyik, F., Ozcelik, T., Novelli, G., Novelli, A., Casari, G., Aiuti, A., Carrera, P., Bondesan, S., Barzaghi, F., Rovere-Querini, P., Tresoldi, C., Franco, J. L., Rojas, J., Reyes, L. F., Bustos, I. G., Arias, A. A., Morelle, G., Kyheng, C., Troya, J., Planas-Serra, L., Schluter, A., Gut, M., Pujol, A., Allende, L. M., Rodriguez-Gallego, C., Flores, C., Cabrera-Marante, O., Pleguezuelo, D. E., Diego, R. P. D., Keles, S., Aytekin, G., Akcan, O. M., Bryceson, Y. T., Bergman, P., Brodin, P., Smole, D., Smith, C. I. E., Norlin, A. -C., Campbell, T. M., Covill, L. E., Hammarstrom, L., Pan-Hammarstrom, Q., Abolhassani, H., Mane, S., Marr, N., Ata, M., Ali, F. A., Khan, T., Spaan, A. N., Dalgard, C. L., Bonfanti, P., Biondi, A., Tubiana, S., Burdet, C., Nussbaum, R., Kahn-Kirby, A., Snow, A. L., Bustamante, J., Puel, A., Boisson-Dupuis, S., Zhang, S. -Y., Beziat, V., Lifton, R. P., Bastard, P., Notarangelo, L. D., Abel, L., Su, H. C., Jouanguy, E., Amara, A., Soumelis, V., Cobat, A., Zhang, Q., Casanova, J. -L., Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Génomes, biologie cellulaire et thérapeutiques (GenCellDi (U944 / UMR7212)), Collège de France (CdF (institution))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut Pasteur [Paris] (IP), Génétique Moléculaire des Virus à ARN - Molecular Genetics of RNA Viruses (GMV-ARN (UMR_3569 / U-Pasteur_2)), Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Agents infectieux, résistance et chimiothérapie - UR UPJV 4294 (AGIR ), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie, CHU Amiens-Picardie, French COVID cohort study group, The Laboratory of Human Genetics of Infectious Diseases is supported by the Howard Hughes Medical Institute, Rockefeller University, the St. Giles Foundation, the NIH (R01AI088364), the National Center for Advancing Translational Sciences (NCATS), NIH Clinical and Translational Science Award (CTSA) program (UL1TR001866), a Fast Grant from Emergent Ventures, Mercatus Center at the George Mason University, the Yale Center for Mendelian Genomics and the GSP Coordinating Center funded by the National Human Genome Research Institute (NHGRI) (UM1HG006504 and U24HG008956), the Fisher Center for Alzheimer’s Research Foundation, the Meyer Foundation, the JPB Foundation, the French National Research Agency (ANR) under the 'Investments for the Future' program (ANR-10-IAHU-01) and the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID), the French Foundation for Medical Research (FRM) (EQU201903007798), the FRM and ANR GENCOVID project, the ANRS-COV05, ANR GENVIR (ANR-20-CE93-003), and ANR AABIFNCOV (ANR-20-CO11-0001) projects, the European Union’s Horizon 2020 Research and Innovation Program under grant agreement no. 824110 (EASI-genomics), the Square Foundation, Grandir–Fonds de solidarité pour l’enfance, the SCOR Corporate Foundation for Science, Fondation du Souffle, Institut National de la Santé et de la Recherche Médicale (INSERM), REACTing-INSERM, and the University of Paris. The French COVID Cohort study group was sponsored by INSERM and supported by the REACTing consortium and by a grant from the French Ministry of Health (PHRC 20-0424). The Cov-Contact Cohort was supported by the REACTing consortium, the French Ministry of Health, and the European Commission (RECOVER WP 6). The Neurometabolic Diseases Laboratory received funding from the European Union’s Horizon 2020 Research and Innovation Program (EasiGenomics grant no. 824110 COVID-19/PID12342). A.P., R.P.d.D., C.R.-G., and C.F. were funded by 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 DISA (OA18/017), and Cabildo Insular de Tenerife (CGIEU0000219140 and 'Apuestas científicas del ITER para colaborar en la lucha contra la COVID-19'). The laboratories of G.N. and A.N. were supported by a grant awarded to Regione Lazio (PROGETTI DI GRUPPI DI RICERCA 2020) no. A0375-2020-36663, GecoBiomark. A. Amara’s laboratory was supported by 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 FRM (EQU202003010193), ANR (ANR-20-COVI-000 project IDISCOVR and ANR-20-CO11-0004 project FISHBP), and the University of Paris (Plan de Soutien Covid-19: RACPL20FIR01-COVID-SOUL). This work was supported, in part, by the Division of Intramural Research, NIAID, NIH (grants 1ZIAAI001265 to H.C.S. and ZIA AI001270 to L.D.N.). The G.C. laboratory was supported by the Italian Ministry of Health (grant COVID-2020-12371617) and the intramural COVID Host Genetics program. The J.L.F. laboratory was supported, in part, by the Coopération Scientifique France-Colciencias (ECOS-Nord/COLCIENCIAS/MEN/ICETEX, 806-2018) and Colciencias contract 713-2016 (no. 111574455633). The V.S. laboratory was supported by ANR DENDRISEPSIS (ANR-17-CE15-0003) and ANR APCOD (ANR-17-CE15-0003-01), a Fast Grant from the Mercatus Center, FRM, University of Paris PLAN D’URGENCE COVID19. The N.M. laboratory was supported by Sidra Medicine (SDR400048) and the Qatar National Research Fund (grant No. NPRP9-251-3-045). A.-L.N. was supported by the Bettencourt Schueller Foundation and the International PhD program of the Imagine Institute. P. Bergman and C.I.E.S received support from the Center for Medical Innovation (CIMED), the Swedish Medical Research Council and the Stockholm County Council (ALF-project). Part of this work was generated within the European Reference Network for rare primary immunodeficiency, autoinflammatory and autoimmune diseases (RITA)., Members of French COVID Cohort Study Group: Laurent Abel1, Claire Andrejak2, François Angoulvant3, Delphine Bachelet4, Marie Bartoli5, Romain Basmaci6, Sylvie Behilill7, Marine Beluze8, Dehbia Benkerrou9, Krishna Bhavsar4, Lila Bouadma4, Sabelline Bouchez10, Maude Bouscambert11, Minerva Cervantes-Gonzalez4, Anissa Chair4, Catherine Chirouze12, Alexandra Coelho13, Camille Couffignal4, Sandrine Couffin-Cadiergues14, Eric d’Ortenzio5, Marie-Pierre Debray4, Lauren Deconinck4, Dominique Deplanque15, Diane Descamps4, Mathilde Desvallée16, Alpha Diallo5, Alphonsine Diouf13, Céline Dorival9, François Dubos17, Xavier Duval4, Brigitte Elharrar18, Philippine Eloy4, Vincent Enouf7, Hélène Esperou14, Marina Esposito-Farese4, Manuel Etienne19, Eglantine Ferrand Devouge19, Nathalie Gault4, Alexandre Gaymard11, Jade Ghosn4, Tristan Gigante20, Morgane Gilg20, Jérémie Guedj21, Alexandre Hoctin13, Isabelle Hoffmann4, Ikram Houas14, Jean-Sébastien Hulot22, Salma Jaafoura14, Ouifiya Kafif4, Florentia Kaguelidou23, Sabrina Kali4, Antoine Khalil4, Coralie Khan16, Cédric Laouénan4, Samira Laribi4, Minh Le4, Quentin Le Hingrat4, Soizic Le Mestre5, Hervé Le Nagard24, François-Xavier Lescure4, Sophie Letrou4, Yves Levy25, Bruno Lina11, Guillaume Lingas24, Jean Christophe Lucet4, Denis Malvy26, Marina Mambert13, France Mentré4, Amina Meziane9, Hugo Mouquet7, Jimmy Mullaert4, Nadège Neant24, Duc Nguyen26, Marion Noret27, Saad Nseir17, Aurélie Papadopoulos14, Christelle Paul5, Nathan Peiffer-Smadja4, Thomas Perpoint28, Ventzislava Petrov-Sanchez5, Gilles Peytavin4, Huong Pham4, Olivier Picone6, Valentine Piquard4, Oriane Puéchal29, Christian Rabaud30, Manuel Rosa-Calatrava11, Bénédicte Rossignol20, Patrick Rossignol30, Carine Roy4, Marion Schneider4, Richa Su4, Coralie Tardivon4, Marie-Capucine Tellier4, François Téoulé9, Olivier Terrier11, Jean-François Timsit4, Christelle Tual31, Sarah Tubiana4, Sylvie Van Der Werf7, Noémie Vanel32, Aurélie Veislinger31, Benoit Visseaux4, Aurélie Wiedemann25, Yazdan Yazdanpanah4, ANR-17-CE15-0003,DENDRISEPSIS,Analyse systémique des cellules présentatrices d'antigène dans le sepsis humain(2017), 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), Asano, T, Boisson, B, Onodi, F, Matuozzo, D, Moncada-Velez, M, Maglorius Renkilaraj, M, Zhang, P, Meertens, L, Bolze, A, Materna, M, Korniotis, S, Gervais, A, Talouarn, E, Bigio, B, Seeleuthner, Y, Bilguvar, K, Zhang, Y, Neehus, A, Ogishi, M, Pelham, S, Le Voyer, T, Rosain, J, Philippot, Q, Soler-Palacín, P, Colobran, R, Martin-Nalda, A, Rivière, J, Tandjaoui-Lambiotte, Y, Chaïbi, K, Shahrooei, M, Darazam, I, Olyaei, N, Mansouri, D, Hatipoğlu, N, Palabiyik, F, Ozcelik, T, Novelli, G, Novelli, A, Casari, G, Aiuti, A, Carrera, P, Bondesan, S, Barzaghi, F, Rovere-Querini, P, Tresoldi, C, Franco, J, Rojas, J, Reyes, L, Bustos, I, Arias, A, Morelle, G, Christèle, K, Troya, J, Planas-Serra, L, Schlüter, A, Gut, M, Pujol, A, Allende, L, Rodriguez-Gallego, C, Flores, C, Cabrera-Marante, O, Pleguezuelo, D, de Diego, R, Keles, S, Aytekin, G, Akcan, O, Bryceson, Y, Bergman, P, Brodin, P, Smole, D, Smith, C, Norlin, A, Campbell, T, Covill, L, Hammarström, L, Pan-Hammarström, Q, Abolhassani, H, Mane, S, Marr, N, Ata, M, Al Ali, F, Khan, T, Spaan, A, Dalgard, C, Bonfanti, P, Biondi, A, Tubiana, S, Burdet, C, Nussbaum, R, Kahn-Kirby, A, Snow, A, Bustamante, J, Puel, A, Boisson-Dupuis, S, Zhang, S, Béziat, V, Lifton, R, Bastard, P, Notarangelo, L, Abel, L, Su, H, Jouanguy, E, Amara, A, Soumelis, V, Cobat, A, Zhang, Q, and Casanova, J

Subjects
Male, SUBSETS, [SDV]Life Sciences [q-bio], Penetrance, REDUNDANT, COVID-19 (Malaltia), 0302 clinical medicine, Resposta immunitària, 80 and over, Medicine and Health Sciences, Medicine, Young adult, Child, X-linked recessive inheritance, ComputingMilieux_MISCELLANEOUS, Aged, 80 and over, 0303 health sciences, education.field_of_study, PYOGENIC BACTERIAL-INFECTIONS, virus diseases, Genetic Diseases, X-Linked, HUMANS, General Medicine, Middle Aged, PROTECTIVE IMMUNITY, 3. Good health, Pedigree, Settore MED/03, Immune System Diseases, Genetic Diseases, Child, Preschool, Cohort, medicine.symptom, SINGLE-STRANDED RNA, Adult, Adolescent, Aged, Alleles, COVID-19, Humans, Infant, Toll-Like Receptor 7, Young Adult, Immunology, Population, Asymptomatic, Article, 03 medical and health sciences, HOST-DEFENSE, Immune response, Allele, Preschool, education, 030304 developmental biology, TOLL-LIKE RECEPTORS, business.industry, RECOGNITION, Proteins, X-Linked, medicine.disease, Pneumonia, 3121 General medicine, internal medicine and other clinical medicine, PLASMACYTOID DENDRITIC CELLS, business, Proteïnes, 030215 immunology
Abstract

Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare, biochemically deleterious X-linked TLR7 variants in 16 unrelated male individuals aged 7 to 71 years (mean: 36.7 years) from a cohort of 1,202 male patients aged 0.5 to 99 years (mean: 52.9 years) with unexplained critical COVID-19 pneumonia. None of the 331 asymptomatically or mildly infected male individuals aged 1.3 to 102 years (mean: 38.7 years) tested carry such TLR7 variants (p = 3.5 × 10-5). The phenotypes of five hemizygous relatives of index cases infected with SARS-CoV-2 include asymptomatic or mild infection (n=2, 5 and 38 years), or moderate (n=1, 5 years), severe (n=1, 27 years), or critical (n=1, 29 years) pneumonia. Two boys (aged 7 and 12 years) from a cohort of 262 male patients with severe COVID-19 pneumonia (mean: 51.0 years) are hemizygous for a deleterious TLR7 variant. The cumulative allele frequency for deleterious TLR7 variants in the male general population is < 6.5x10-4 We also show that blood B cell lines and myeloid cell subsets from the patients do not respond to TLR7 stimulation, a phenotype rescued by wild-type TLR7 The patients' blood plasmacytoid dendritic cells (pDCs) produce low levels of type I IFNs in response to SARS-CoV-2. Overall, X-linked recessive TLR7 deficiency is a highly penetrant genetic etiology of critical COVID-19 pneumonia, in about 1.8% of male patients below the age of 60 years. Human TLR7 and pDCs are essential for protective type I IFN immunity against SARS-CoV-2 in the respiratory tract. Funding: The Laboratory of Human Genetics of Infectious Diseases is supported by the Howard Hughes Medical Institute, Rockefeller University; the St. Giles Foundation; the NIH (R01AI088364), the National Center for Advancing Translational Sciences (NCATS); NIH Clinical and Translational Science Award (CTSA) program (UL1TR001866); a Fast Grant from Emergent Ventures; Mercatus Center at the George Mason University; the Yale Center for Mendelian Genomics and the GSP Coordinating Center funded by the National Human Genome Research Institute (NHGRI) (UM1HG006504 and U24HG008956); the Meyer Foundation; the JPB Foundation; the French National Research Agency (ANR) under the “Investments for the Future” program (ANR-10-IAHU-01) and the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID); the French Foundation for Medical Research (FRM) (EQU201903007798); the FRM and ANR GENCOVID project, the ANRS-COV05, ANR GENVIR (ANR-20-CE93-003), and ANR AABIFNCOV (ANR-20-CO11-0001) projects; the European Union’s Horizon 2020 Research and Innovation Program under grant agreement no. 824110 (EASI-genomics). The French COVID Cohort study group was sponsored by INSERM and supported by the REACTing consortium and by a grant from the French Ministry of Health (PHRC 20-0424). The Cov-Contact Cohort was supported by the REACTing consortium, the French Ministry of Health, and the European Commission (RECOVER WP 6). The Neurometabolic Diseases Laboratory received funding from the European Union’s Horizon 2020 Research and Innovation Program (EasiGenomics grant no. 824110 COVID-19/PID12342). A.P., R.P.d.D., C.R.-G., and C.F. were funded by 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 DISA (OA18/017), and Cabildo Insular de Tenerife (CGIEU0000219140 and “Apuestas científicas del ITER para colaborar en la lucha contra la COVID-19”). The laboratories of G.N. and A.N. were supported by a grant awarded to Regione Lazio (PROGETTI DI GRUPPI DI RICERCA 2020) no. A0375-2020-36663, GecoBiomark. A. Amara’s laboratory was supported by 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 FRM (EQU202003010193), ANR (ANR-20-COVI-000 project IDISCOVR and ANR-20-CO11-0004 project FISHBP), and the University of Paris (Plan de Soutien Covid-19: RACPL20FIR01-COVID-SOUL). This work was supported, in part, by the Division of Intramural Research, NIAID, NIH (grants 1ZIAAI001265 to H.C.S. and ZIA AI001270 to L.D.N.). The G.C. laboratory was supported by the Italian Ministry of Health (grant COVID-2020-12371617) and the intramural COVID Host Genetics program. The J.L.F. laboratory was supported, in part, by the Coopération Scientifique France-Colciencias (ECOS-Nord/COLCIENCIAS/MEN/ICETEX; 806-2018) and Colciencias contract 713-2016 (no. 111574455633). The V.S. laboratory was supported by ANR DENDRISEPSIS (ANR-17-CE15-0003) and ANR APCOD (ANR-17-CE15-0003-01), a Fast Grant from the Mercatus Center, FRM, University of Paris PLAN D’URGENCE COVID19. The N.M. laboratory was supported by Sidra Medicine (SDR400048) and the Qatar National Research Fund (grant No. NPRP9-251-3-045)

Published
2021

38. Lactate is associated with mortality in very old intensive care patients suffering from COVID-19 : results from an international observational study of 2860 patients

Author

Raphael Romano Bruno, Bernhard Wernly, Hans Flaatten, Jesper Fjølner, Antonio Artigas, Bernardo Bollen Pinto, Joerg C. Schefold, Stephan Binnebössel, Philipp Heinrich Baldia, Malte Kelm, Michael Beil, Sivri Sigal, Peter Vernon van Heerden, Wojciech Szczeklik, Muhammed Elhadi, Michael Joannidis, Sandra Oeyen, Tilemachos Zafeiridis, Jakob Wollborn, Maria José Arche Banzo, Kristina Fuest, Brian Marsh, Finn H. Andersen, Rui Moreno, Susannah Leaver, Ariane Boumendil, Dylan W. De Lange, Bertrand Guidet, Christian Jung, the COVIP Study Group, COVIP Study Group, Eller, P., Joannidis, M., Mesotten, D., Reper, P., Oeyen, S., Swinnen, W., Serck, N., Dewaele, E., Chapeta, E., Brix, H., Brushoej, J., Kumar, P., Nedergaard, H.K., Johnsen, T.K., Bundesen, C., Hansen, M.A., Uhrenholt, S., Bundgaard, H., Fjølner, J., Innes, R., Gooch, J., Cagova, L., Potter, E., Reay, M., Davey, M., Abusayed, M.A., Humphreys, S., Collins, A., Aujayeb, A., Leaver, S., Khaliq, W., Habib, A.A., Azab, M.A., Wassim, K., Elgazzar, Y.A., Salah, R., Abosheaishaa, H.M., Hussein Mohamed, AAR, Azzam, A.Y., Tharwat, S., Ali, YKNM, Elmandouh, O., Galal, I., Abu-Elfatth, A., Motawea, K., Elbahnasawy, M., Shehata, M., Tayeb, M., Osman, N., Abdel-Elsalam, W., Hussein, A.M., Aldhalia, A., Galbois, A., Guidet, B., Charron, C., Berlemont, C.H., Besch, G., Rigaud, J.P., Maizel, J., Djibré, M., Burtin, P., Garcon, P., Nseir, S., Valette, X., Alexandru, N., Marin, N., Vaissiere, M., Plantefeve, G., Mentec, H., Vanderlinden, T., Jurcisin, I., Megarbane, B., Chousterman, B.G., Dépret, F., Garnier, M., Besset, S., Oziel, J., Ferre, A., Dauger, S., Dumas, G., Goncalves, B., Vettoretti, L., Thevenin, D., Schaller, S., Kurt, M., Faltlhauser, A., Meyer, C., Milovanovic, M., Lutz, M., Shala, G., Haake, H., Randerath, W., Kunstein, A., Meybohm, P., Steiner, S., Barth, E., Poerner, T., Simon, P., Lorenz, M., Dindane, Z., Kuhn, K.F., Welte, M., Voigt, I., Kabitz, H.J., Wollborn, J., Goebel, U., Stoll, S.E., Kindgen-Milles, D., Dubler, S., Jung, C., Fuest, K., Schuster, M., Papadogoulas, A., Mulita, F., Rovina, N., Aidoni, Z., Chrisanthopoulou, E., Kondili, E., Andrianopoulos, I., Gurjar, M., Mahmoodpoor, A., Hussein, R., Al-Juaifari, M.A., Karantenachy, AKA, Sviri, S., Elsaka, A., Marsh, B., Comellini, V., Al-Ali, F., Almani, S., Khamees, A.A., Al-Shami, K., El Din, I.S., Abubaker, T., Ahmed, H., Rabha, A., Alhadi, A., Emhamed, M., Abdeewi, S., Abusalama, A., Huwaysh, M., Alghati, E.A., Ghannam, A., Namendys-Sylva, S.A., Groenendijk, M., Evers, M., Van Lelyveld-Haas, L., Meynaar, I., Cornet, A.D., Zegers, M., Dieperink, W., De Lange, D., Dormans, T., Hahn, M., Sjøbøe, B., Strietzel, H.F., Olasveengen, T., Romundstad, L., Andersen, F.H., Massoud, JGG, Khan, A.G., Al-Qasrawi, S., Amro, S., Kluzik, A., Zatorski, P., Drygalski, T., Szczeklik, W., Klimkiewicz, J., Solek-Pastuszka, J., Onichimowski, D., Czuczwar, M., Gawda, R., Stefaniak, J., Stefanska-Wronka, K., Zabul, E., Oliveira, AIP, Assis, R., De Lurdes Campos Santos, M., Santos, H., Cardoso, F.S., Gordinho, A., Grintescu, I.M., Tomescu, D., Badawy, M.R., José Arche Banzo, M., Zalba-Etayo, B., Cubero, P.J., Priego, J., Gomà, G., Tomasa-Irriguible, T.M., Sancho, S., Ferreira, A.F., Vázquez, E.M., Mira, Á.P., Ibarz, M., Iglesias, D., Arias-Rivera, S., Frutos-Vivar, F., Lopez-Cuenca, S., Aldecoa, C., Perez-Torres, D., Canas-Perez, I., Tamayo-Lomas, L., Diaz-Rodriguez, C., De Gopegui, P.R., Saleh, M., Hilles, MMY, Abualqumboz, EMY, Ben-Hamouda, N., Roberti, A., Fleury, Y., Abidi, N., Schefold, J.C., Chau, I., Dullenkopf, A., Chaaban, M.K., Shebani, M.M., Hmaideh, A., Shaher, A., Sahin, A.S., Saracoglu, K.T., Al-Sadawi, M., Pugh, R., Smuts, S., and Al-Saban, RAM

Subjects
SEPSIS, RC86-88.9, IMPACT, Research, SEPTIC SHOCK, LEVEL, Medicine and Health Sciences, Medical emergencies. Critical care. Intensive care. First aid, 610 Medicine & health, ELDERLY-PATIENTS, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18]
Abstract

Purpose Lactate is an established prognosticator in critical care. However, there still is insufficient evidence about its role in predicting outcome in COVID-19. This is of particular concern in older patients who have been mostly affected during the initial surge in 2020. Methods This prospective international observation study (The COVIP study) recruited patients aged 70 years or older (ClinicalTrials.gov ID: NCT04321265) admitted to an intensive care unit (ICU) with COVID-19 disease from March 2020 to February 2021. In addition to serial lactate values (arterial blood gas analysis), we recorded several parameters, including SOFA score, ICU procedures, limitation of care, ICU- and 3-month mortality. A lactate concentration ≥ 2.0 mmol/L on the day of ICU admission (baseline) was defined as abnormal. The primary outcome was ICU-mortality. The secondary outcomes 30-day and 3-month mortality. Results In total, data from 2860 patients were analyzed. In most patients (68%), serum lactate was lower than 2 mmol/L. Elevated baseline serum lactate was associated with significantly higher ICU- and 3-month mortality (53% vs. 43%, and 71% vs. 57%, respectively, p

Published
2021

39. Efficacy and Feasibility of Intradialytic Plantar Electrical Stimulation in Patients With Diabetes: A Randomized Double-Blind Controlled Trial.

Author

Lee M, Hamad A, Azarian M, Beom J, Ouattas A, Dehghan Rouzi M, Rodriguez N, Quach N, Ibrahim R, Mathew M, Talal T, Al-Ali F, and Najafi B

Abstract

Objective: This study investigates the efficacy and feasibility of electrical stimulation (E-Stim) on sensory fibers of the plantar region during hemodialysis sessions, aiming to improve mobility in patients with diabetes by providing a connection between E-Stim and enhanced mobility with minimal patient effort required., Research Design and Methods: Participants age ≥18 years with diabetes undergoing hemodialysis and able to walk at least 10 m with or without aid were recruited and divided into an intervention group receiving 1-h intradialytic E-Stim three times a week and a control group using an identical nonfunctional device for 12 weeks. Gait, physical activity, patient-reported outcomes, and the technology acceptance model were assessed to evaluate the intervention's effectiveness and acceptance., Results: Out of 117 initial participants, 97 completed the study. Significant improvements were observed in the intervention group compared with the control group in gait performance (stride time at dual-task and fast walking), physical activity (stand to walk and sit to stand), quality of life, plantar numbness, and cognitive function after 12 weeks. The intervention group showed that magnitudes of improvement on gait performance and physical activity metrics were associated with enhancements in quality of life and cognitive function, respectively. The intervention group also reported higher usefulness and usage satisfaction, with a greater willingness to continue using E-Stim at home., Conclusions: The 12-week intradialytic E-Stim intervention is a feasible and effective method to enhance gait performance, physical activity level, cognitive function, and other patient-reported outcomes in patients undergoing hemodialysis, representing a practical, low-risk therapy option for those unable to engage in traditional exercise programs., (© 2024 by the American Diabetes Association.)

Published
2024
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40. Joint position statement from the Middle East and North Africa and sub-Saharan Africa on continuing to endorse the MAFLD definition.

Author

Fouad Y, Ghazinyan H, Alboraie M, Al Khatry M, Desalegn H, Al-Ali F, El-Shabrawi MHF, Ocama P, Derbala M, Barakat S, Awuku YA, Ndububa DA, Sabbah M, Hamoudi W, Ng'wanasayi M, Elwakil R, Ally R, Al-Busafi SA, Hashim A, Esmat G, and Shiha G

Subjects
Africa South of the Sahara, Africa, Northern, Middle East, Fatty Liver diagnosis
Published
2024
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41. The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.

Author

Materna M, Delmonte OM, Bosticardo M, Momenilandi M, Conrey PE, Charmeteau-De Muylder B, Bravetti C, Bellworthy R, Cederholm A, Staels F, Ganoza CA, Darko S, Sayed S, Le Floc'h C, Ogishi M, Rinchai D, Guenoun A, Bolze A, Khan T, Gervais A, Krüger R, Völler M, Palterer B, Sadeghi-Shabestari M, Langlois de Septenville A, Schramm CA, Shah S, Tello-Cajiao JJ, Pala F, Amini K, Campos JS, Lima NS, Eriksson D, Lévy R, Seeleuthner Y, Jyonouchi S, Ata M, Al Ali F, Stittrich A, Deswarte C, Pereira A, Mégret J, Le Voyer T, Bastard P, Berteloot L, Dussiot M, Vladikine N, Cardenas PP, Jouanguy E, Alqahtani M, Hasan A, Thanaraj TA, Rosain J, Al Qureshah F, Sabato V, Alyanakian MA, Leruez-Ville M, Rozenberg F, Haddad E, Regueiro JR, Toribio ML, Kelsen JR, Salehi M, Nasiri S, Torabizadeh M, Rokni-Zadeh H, Changi-Ashtiani M, Vatandoost N, Moravej H, Akrami SM, Mazloomrezaei M, Cobat A, Meyts I, Toyofuku E, Nishimura M, Moriya K, Mizukami T, Imai K, Abel L, Malissen B, Al-Mulla F, Alkuraya FS, Parvaneh N, von Bernuth H, Beetz C, Davi F, Douek DC, Cheynier R, Langlais D, Landegren N, Marr N, Morio T, Shahrooei M, Schrijvers R, Henrickson SE, Luche H, Notarangelo LD, Casanova JL, and Béziat V

Subjects
Humans, Cell Differentiation, Homozygote, Loss of Function Mutation, Lymphocyte Count, Alleles, Infections immunology, Lymphoproliferative Disorders immunology, Pedigree, Male, Female, Middle Aged, Aged, Aged, 80 and over, Autoimmunity genetics, Intraepithelial Lymphocytes immunology, Receptors, Antigen, T-Cell, alpha-beta genetics, Membrane Glycoproteins genetics
Abstract

We describe humans with rare biallelic loss-of-function PTCRA variants impairing pre-α T cell receptor (pre-TCRα) expression. Low circulating naive αβ T cell counts at birth persisted over time, with normal memory αβ and high γδ T cell counts. Their TCRα repertoire was biased, which suggests that noncanonical thymic differentiation pathways can rescue αβ T cell development. Only a minority of these individuals were sick, with infection, lymphoproliferation, and/or autoimmunity. We also report that 1 in 4000 individuals from the Middle East and South Asia are homozygous for a common hypomorphic PTCRA variant. They had normal circulating naive αβ T cell counts but high γδ T cell counts. Although residual pre-TCRα expression drove the differentiation of more αβ T cells, autoimmune conditions were more frequent in these patients compared with the general population.

Published
2024
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42. Transcatheter aortic valve implantation for aortic regurgitation in HeartMate II supported patient using Myval THV: a case report.

Author

Hamieh M, Nassereddine Z, Moussa M, Al Ali F, Dbouk M, and Saab M

Abstract

De novo aortic regurgitation (AR) presents a great challenge following left ventricular assist device (LVAD) implantation and requires valve replacement in some cases. Patients with LVAD are frequently those who underwent multiple previous sternotomies or suffer from multiple comorbidities. Thus, they are at high surgical risk for further sternotomy. Transcatheter aortic valve implantation (TAVI) previously approved for treatment of severe aortic stenosis is also used for this category of patients. Here, we report the case of a young female patient supported with heart mate II LVAD who presented with severe de novo AR. The patient was successfully treated with TAVI using Myval trancatheter heart valve (THV) in our center. To our knowledge, our patient is the first to be treated with such type of valve using TAVI procedure in LVAD supported patients., Competing Interests: No conflict of interest to declare., (© The Author(s) 2023. Published by Oxford University Press.)

Published
2023
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43. Game-based intradialytic non-weight-bearing exercise training on gait speed and balance in older adults with diabetes: a single-blind randomized controlled trial.

Author

Finco MG, Najafi B, Zhou H, Hamad A, Ibrahim R, and Al-Ali F

Subjects
Humans, Aged, Middle Aged, Single-Blind Method, Exercise, Gait, Walking Speed, Diabetes Mellitus
Abstract

Older adults with diabetes receiving hemodialysis have impaired gait speed and balance compared to the general population, which have been associated with increased risks of falls and mortality. This study evaluated the effectiveness of a game-based intradialytic exercise training program (iExergame) on improving gait speed and balance. This was a single-blind randomized controlled trial. The intervention group (IG) received iExergame training using real-time audiovisual feedback with wearable inertial sensors. The control group (CG) received conventional training without any technology. Both trainings were intradialytic, non-weight-bearing, and used ankle range of motion. Gait and balance parameters were collected at baseline and 4-week follow-up. Data from 70 adults (age 64.2 ± 9.0 years) were analyzed. Compared to the CG, the IG showed greater changes between baseline and 4-week follow-up in several parameters. Gait parameters included faster speeds and longer stride lengths, particularly during dual task walking (p < 0.050). Balance parameters included reductions in center of mass (p = 0.004), ankle (p < 0.001), and hip (p = 0.010) sways during semi-tandem stance, particularly in users of assistive devices. iExergame training could improve gait speed and balance in this population and might be an option to increase intradialytic exercise adherence while reducing burdens of exercise administration., (© 2023. Springer Nature Limited.)

Published
2023
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44. Intradialytic plantar electrical nerve stimulation to improve mobility and plantar sensation among adults with diabetes undergoing hemodialysis: a randomized double-blind trial.

Author

Mishra RK, Najafi B, Hamad A, Bara R, Lee M, Ibrahim R, Mathew M, Talal T, and Al-Ali F

Subjects
Humans, Adult, Middle Aged, Renal Dialysis adverse effects, Exercise, Sensation, Hypesthesia, Diabetes Mellitus
Abstract

Background: Impaired mobility is a debilitating consequence of hemodialysis. We examined the efficacy of intradialytic-plantar-electrical-nerve-stimulation (iPENS) to promote mobility among diabetes patients undergoing hemodialysis.., Methods: Adults with diabetes undergoing hemodialysis received either 1-h active iPENS, (Intervention-Group) or non-functional iPENS (Control-Group) during routine hemodialysis for 12 weeks (3 sessions/week). Participants and care-providers were blinded. Mobility (assessed using a validated pendant-sensor) and neuropathy (quantified by vibration-perception-threshold test) outcomes were assessed at baseline and 12 weeks., Results: Among 77 enrolled subjects (56.2 ± 2.6 years old), 39 were randomly assigned to the intervention group, while 38 were assigned to the control group. No study-related adverse events and dropouts were reported in the intervention group. Compared to the control group, significant improvements with medium to large effect sizes were observed in the intervention group at 12 weeks for mobility-performance metrics, including active-behavior, sedentary-behavior, daily step counts, and sit-to-stand duration variability (p < 0.05), Cohen's d effect size (d = 0.63-0.84). The magnitude of improvement in active-behavior was correlated with improvement in the vibration-perception-threshold test in the intervention group (r = - 0.33, p = 0.048). A subgroup with severe-neuropathy (vibration-perception-threshold > 25 V) showed a significant reduction in plantar numbness at 12 weeks compared to baseline (p = 0.03, d = 1.1)., Conclusions: This study supports feasibility, acceptability, and effectiveness of iPENS to improve mobility and potentially reduce plantar numbness in people with diabetes undergoing hemodialysis. Considering that exercise programs are not widely used in hemodialysis clinical practice, iPENS may serve as a practical, alternative solution to reduce hemodialysis-acquired weakness and promote mobility., (© 2023. The Author(s) under exclusive licence to Italian Society of Nephrology.)

Published
2023
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45. Objective assessment of mobility among adults with diabetes and end-stage renal disease using walking aid: A cross-sectional cohort study.

Author

Mishra RK, Hamad A, Ibrahim R, Mathew M, Talal T, Al-Ali F, Park C, Davuluri V, Fernando ME, and Najafi B

Subjects
Aged, Female, Humans, Male, Cohort Studies, Cross-Sectional Studies, Fear psychology, Hypesthesia, Walking, Diabetes Mellitus, Kidney Failure, Chronic
Abstract

Background: This cross-sectional study aimed to compare physical activity levels, plantar sensation, and fear of falling between individuals with diabetes undergoing hemodialysis, with or without walking aids., Methods: Sixty-four participants were recruited, with 37 not using walking aids (age = 65.8 ± 0.7 years, 46% female) and 27 using walking aids (age = 69.2 ± 1.2 years, 63% female). Physical activity was measured using validated pendant sensors over two consecutive days. Concern for falling and plantar numbness were assessed using the Falls Efficacy Scale-International and vibration perception threshold test, respectively., Findings: Participants using walking aids exhibited a greater fear of falling (84% vs. 38%, p < 0.01) and fewer walking bouts (p < 0.01, d = 0.67) and stand-to-walk transitions (p < 0.01, d = 0.72) compared to those not using walking aids. The number of walking bouts was negatively correlated with concern for falling scores (ρ = -0.35, p = 0.034) and vibration perception threshold (R = -0.411, p = 0.012) among individuals not using walking aids. However, these correlations were not significant among those using the walking aid. There was no significant group difference in active behavior (walking + standing %) and sedentary behavior (sitting + lying %)., Interpretation: Those undergoing hemodialysis often lead sedentary lives, with mobility affected by fear of falling and plantar numbness. Using walking aids can help, but it doesn't guarantee more walking. A combined psychosocial and physical therapy approach is key for managing fall concerns and improving mobility., Competing Interests: Declaration of Competing Interest None of the authors declared conflict of interest relevant to the scope of this study., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Published
2023
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46. Associations between HLA class II alleles and IgE sensitization to allergens in the Qatar Biobank cohort.

Author

Khan T, Ledoux IM, Aziz F, Al Ali F, Chin-Smith E, Ata M, Karim MY, and Marr N

Abstract

Background: Allergic disorders are the consequence of IgE sensitization to allergens. Population studies have shown that certain human leukocyte antigen (HLA) alleles are associated with increased or decreased risk of developing allergy., Objective: We aimed to characterize the relationship between HLA class II allelic diversity and IgE sensitization in an understudied Arab population., Methods: We explored associations between IgE sensitization to 7 allergen mixes and mesquite (comprising 41 food or aeroallergens) and 45 common classical HLA class II alleles in a well-defined cohort of 797 individuals representing the general adult population of Qatari nationals and long-term residents. To do so, we performed HLA calling from whole genome sequencing data at 2-field resolution using 2 independent algorithms. We then applied 3 different regression models to assess either each allergen mix independently, in the context of IgE sensitization to other allergens tested, or polysensitization., Results: More than half (n = 447) of the study participants showed IgE sensitization to at least 1 allergen, most of them (n = 400) to aeroallergens (Phadiatop). We identified statistically significant negative and positive associations with 24 HLA class II alleles. These have been reported to confer risk or protection from variety of diseases; however, only a few have previously been associated with allergy in other populations., Conclusions: Our study reveals several new risk and protective genetic markers for allergen-specific IgE sensitization. This is a first and essential step toward a better understanding of the origins of allergic diseases in this understudied population., (© 2023 The Author(s).)

Published
2023
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47. Organizing training workshops on gene literature retrieval, profiling, and visualization for early career researchers.

Author

Al Ali F, Marr AK, Tatari-Calderone Z, Alfaki M, Toufiq M, Roelands J, Syed Ahamed Kabeer B, Bedognetti D, Marr N, Garand M, Rinchai D, and Chaussabel D

Subjects
Humans, PubMed, Software, Learning, Curriculum, Biomedical Research
Abstract

Early-career researchers must acquire the skills necessary to effectively search and extract information from biomedical literature. This ability is for instance crucial for evaluating the novelty of experimental results, and assessing potential publishing opportunities. Given the rapidly growing volume of publications in the field of biomedical research, new systematic approaches need to be devised and adopted for the retrieval and curation of literature relevant to a specific theme. In this context, we present a hands-on training curriculum aimed at retrieval, profiling, and visualization of literature associated with a given topic. The curriculum was implemented in a workshop in January 2021. Here we provide supporting material and step-by-step implementation guidelines with the ISG15 gene literature serving as an illustrative use case. Workshop participants can learn several skills, including: 1) building and troubleshoot PubMed queries in order to retrieve the literature associated with a gene of interest; 2) identifying key concepts relevant to given themes (such as cell types, diseases, and biological processes); 3) measuring the prevalence of these concepts in the gene literature; 4) extracting key information from relevant articles, and 5) developing a background section or summary on the basis of this information. Finally, trainees can learn to consolidate the structured information captured through this process for presentation via an interactive web application., Competing Interests: No competing interests were disclosed., (Copyright: © 2023 Al Ali F et al.)

Published
2023
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48. The Effect of High-Dose Methyl Vitamin B12 Therapy on Epileptogenesis in Rats: An In Vivo Study.

Author

Fakhroo A, Al-Hammadi M, Fakhroo L, Al-Ali F, Snobar R, Al-Beltagi M, and Kamal A

Abstract

Introduction Epileptogenesis has been considered one of the most prevalent diseases affecting significant numbers of individuals worldwide. Since vitamin B12 has been reported to possess antiepileptic effects, this supports that vitamin B12 deficiency is correlated to seizure occurrence. Hence, this study aimed to evaluate the neuroprotective effects of vitamin B12 injection on pentylenetetrazole (PTZ)-induced rats. Methods The study was performed using 40 adult female Sprague-Dawley rats (~250 g). A 45 mg/kg PTZ was intraperitoneally injected into rat models to induce seizure effects. Different groups of rat models received methyl vitamin B12 therapy at different dosages, a low dosage of 45 µg/kg and a high dosage of 85 µg/kg, at different pre-treatment periods, one day and two weeks prior to PTZ injection. A control group, which received only PTZ injection, served as a reference. The seizure latency, seizure intensity, and differences in the quality of seizures and their characteristics, from simple twitches to complete seizures, were observed after 30 minutes of PTZ injection. Results In general, the latency to convulsion significantly increased when vitamin B12 pre-treatment was employed. The longest latency time (LT) of 520.63±73.83 seconds was observed when a high dosage of vitamin B12 at 85 µg/kg was injected one day prior to PTZ inoculation, which was significantly higher than that of the control group at 176.88±62.67 seconds (P<0.001). Moreover, the duration of convulsion significantly decreased in which the lowest duration time (DT) of 7.00±4.68 seconds was observed when a high dosage of vitamin B12 at 85 µg/kg was injected two weeks prior to PTZ inoculation, which was significantly lower than that of the control group at 257.75±41.93 seconds (P<0.001). Lastly, the percentage of the population with PTZ-induced convulsion generally decreased after vitamin B12 pre-treatment in which majority showed more of simple less aggressive twitches rather than tonic-clonic seizures. Conclusion The results showed that vitamin B12 pre-treatment alleviates the seizure occurrence among PTZ-kindled rat models. These findings then suggest that vitamin B12 is a potential strategy and treatment for epilepsy and other related epileptogenesis activities., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Fakhroo et al.)

Published
2023
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49. Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.

Author

Philippot Q, Ogishi M, Bohlen J, Puchan J, Arias AA, Nguyen T, Martin-Fernandez M, Conil C, Rinchai D, Momenilandi M, Mahdaviani SA, Keramatipour M, Rosain J, Yang R, Khan T, Neehus AL, Materna M, Han JE, Peel J, Mele F, Weisshaar M, Jovic S, Bastard P, Lévy R, Le Voyer T, Zhang P, Maglorius Renkilaraj MRL, Arango-Franco CA, Pelham S, Seeleuthner Y, Pochon M, Ata MMA, Al Ali F, Migaud M, Soudée C, Kochetkov T, Molitor A, Carapito R, Bahram S, Boisson B, Fieschi C, Mansouri D, Marr N, Okada S, Shahrooei M, Parvaneh N, Chavoshzadeh Z, Cobat A, Bogunovic D, Abel L, Tangye SG, Ma CS, Béziat V, Sallusto F, Boisson-Dupuis S, Bustamante J, Casanova JL, and Puel A

Subjects
Humans, Genetic Predisposition to Disease, Interleukin-17 genetics, Interferon-gamma, Interleukin-23 genetics, Mycobacterium, Mycobacterium Infections immunology
Abstract

Patients with autosomal recessive (AR) IL-12p40 or IL-12Rβ1 deficiency display Mendelian susceptibility to mycobacterial disease (MSMD) due to impaired IFN-γ production and, less commonly, chronic mucocutaneous candidiasis (CMC) due to impaired IL-17A/F production. We report six patients from four kindreds with AR IL-23R deficiency. These patients are homozygous for one of four different loss-of-function IL23R variants. All six patients have a history of MSMD, but only two suffered from CMC. We show that IL-23 induces IL-17A only in MAIT cells, possibly contributing to the incomplete penetrance of CMC in patients unresponsive to IL-23. By contrast, IL-23 is required for both baseline and Mycobacterium -inducible IFN-γ immunity in both Vδ2 + γδ T and MAIT cells, probably contributing to the higher penetrance of MSMD in these patients. Human IL-23 appears to contribute to IL-17A/F-dependent immunity to Candida in a single lymphocyte subset but is required for IFN-γ-dependent immunity to Mycobacterium in at least two lymphocyte subsets.

Published
2023
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50. Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.

Author

Rosain J, Neehus AL, Manry J, Yang R, Le Pen J, Daher W, Liu Z, Chan YH, Tahuil N, Türel Ö, Bourgey M, Ogishi M, Doisne JM, Izquierdo HM, Shirasaki T, Le Voyer T, Guérin A, Bastard P, Moncada-Vélez M, Han JE, Khan T, Rapaport F, Hong SH, Cheung A, Haake K, Mindt BC, Pérez L, Philippot Q, Lee D, Zhang P, Rinchai D, Al Ali F, Ahmad Ata MM, Rahman M, Peel JN, Heissel S, Molina H, Kendir-Demirkol Y, Bailey R, Zhao S, Bohlen J, Mancini M, Seeleuthner Y, Roelens M, Lorenzo L, Soudée C, Paz MEJ, González ML, Jeljeli M, Soulier J, Romana S, L'Honneur AS, Materna M, Martínez-Barricarte R, Pochon M, Oleaga-Quintas C, Michev A, Migaud M, Lévy R, Alyanakian MA, Rozenberg F, Croft CA, Vogt G, Emile JF, Kremer L, Ma CS, Fritz JH, Lemon SM, Spaan AN, Manel N, Abel L, MacDonald MR, Boisson-Dupuis S, Marr N, Tangye SG, Di Santo JP, Zhang Q, Zhang SY, Rice CM, Béziat V, Lachmann N, Langlais D, Casanova JL, Gros P, and Bustamante J

Subjects
Child, Humans, Interferon-gamma, SARS-CoV-2, Interferon-alpha, Interferon Regulatory Factor-1, COVID-19, Mycobacterium
Abstract

Inborn errors of human IFN-γ-dependent macrophagic immunity underlie mycobacterial diseases, whereas inborn errors of IFN-α/β-dependent intrinsic immunity underlie viral diseases. Both types of IFNs induce the transcription factor IRF1. We describe unrelated children with inherited complete IRF1 deficiency and early-onset, multiple, life-threatening diseases caused by weakly virulent mycobacteria and related intramacrophagic pathogens. These children have no history of severe viral disease, despite exposure to many viruses, including SARS-CoV-2, which is life-threatening in individuals with impaired IFN-α/β immunity. In leukocytes or fibroblasts stimulated in vitro, IRF1-dependent responses to IFN-γ are, both quantitatively and qualitatively, much stronger than those to IFN-α/β. Moreover, IRF1-deficient mononuclear phagocytes do not control mycobacteria and related pathogens normally when stimulated with IFN-γ. By contrast, IFN-α/β-dependent intrinsic immunity to nine viruses, including SARS-CoV-2, is almost normal in IRF1-deficient fibroblasts. Human IRF1 is essential for IFN-γ-dependent macrophagic immunity to mycobacteria, but largely redundant for IFN-α/β-dependent antiviral immunity., Competing Interests: Declaration of interests J.-L.C. serves on the scientific advisory boards of ADMA Biologics Inc., Kymera Therapeutics, and Elixiron Immunotherapeutics., (Crown Copyright © 2022. Published by Elsevier Inc. All rights reserved.)

Published
2023
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