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1. Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

Author

Ogishi, Masato, primary, Arias, Andrés Augusto, additional, Yang, Rui, additional, Han, Ji Eun, additional, Zhang, Peng, additional, Rinchai, Darawan, additional, Halpern, Joshua, additional, Mulwa, Jeanette, additional, Keating, Narelle, additional, Chrabieh, Maya, additional, Lainé, Candice, additional, Seeleuthner, Yoann, additional, Ramírez-Alejo, Noé, additional, Nekooie-Marnany, Nioosha, additional, Guennoun, Andrea, additional, Muller-Fleckenstein, Ingrid, additional, Fleckenstein, Bernhard, additional, Kilic, Sara S., additional, Minegishi, Yoshiyuki, additional, Ehl, Stephan, additional, Kaiser-Labusch, Petra, additional, Kendir-Demirkol, Yasemin, additional, Rozenberg, Flore, additional, Errami, Abderrahmane, additional, Zhang, Shen-Ying, additional, Zhang, Qian, additional, Bohlen, Jonathan, additional, Philippot, Quentin, additional, Puel, Anne, additional, Jouanguy, Emmanuelle, additional, Pourmoghaddas, Zahra, additional, Bakhtiar, Shahrzad, additional, Willasch, Andre M., additional, Horneff, Gerd, additional, Llanora, Genevieve, additional, Shek, Lynette P., additional, Chai, Louis Y.A., additional, Tay, Sen Hee, additional, Rahimi, Hamid H., additional, Mahdaviani, Seyed Alireza, additional, Nepesov, Serdar, additional, Bousfiha, Aziz A., additional, Erdeniz, Emine Hafize, additional, Karbuz, Adem, additional, Marr, Nico, additional, Navarrete, Carmen, additional, Adeli, Mehdi, additional, Hammarstrom, Lennart, additional, Abolhassani, Hassan, additional, Parvaneh, Nima, additional, Al Muhsen, Saleh, additional, Alosaimi, Mohammed F., additional, Alsohime, Fahad, additional, Nourizadeh, Maryam, additional, Moin, Mostafa, additional, Arnaout, Rand, additional, Alshareef, Saad, additional, El-Baghdadi, Jamila, additional, Genel, Ferah, additional, Sherkat, Roya, additional, Kiykim, Ayça, additional, Yücel, Esra, additional, Keles, Sevgi, additional, Bustamante, Jacinta, additional, Abel, Laurent, additional, Casanova, Jean-Laurent, additional, and Boisson-Dupuis, Stéphanie, additional

Published
2022
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2. Impaired IL-23-dependent induction of IFN-gamma underlies mycobacterial disease in patients with inherited TYK2 deficiency

Author

Ogishi, Masato, Augusto Arias, Andres, Yang, Rui, Han, Ji Eun, Zhang, Peng, Rinchai, Darawan, Halpern, Joshua, Mulwa, Jeanette, Keating, Narelle, Chrabieh, Maya, Laine, Candice, Seeleuthner, Yoann, Ramirez-Alejo, Noe, Nekooie-Marnany, Nioosha, Guennoun, Andrea, Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Kilic, Sara S., Minegishi, Yoshiyuki, Ehl, Stephan, Kaiser-Labusch, Petra, Kendir-Demirkol, Yasemin, Rozenberg, Flore, Errami, Abderrahmane, Zhang, Shen-Ying, Zhang, Qian, Bohlen, Jonathan, Puel, Anne, Jouanguy, Emmanuelle, Pourmoghaddas, Zahra, Bakhtiar, Shahrzad, Willasch, Andre M., Horneff, Gerd, Llanora, Genevieve, Shek, Lynette P., Chai, Louis Y. A., Tay, Sen Hee, Rahimi, Hamid H., Mahdaviani, Seyed Alireza, Nepesov, Serdar, Bousfiha, Aziz A., Erdeniz, Emine Hafize, Karbuz, Adem, Marr, Nico, Navarrete, Carmen, Adeli, Mehdi, Hammarstrom, Lennart, Abolhassani, Hassan, Parvaneh, Nima, Al Muhsen, Saleh, Alosaimi, Mohammed F., Alsohime, Fahad, Nourizadeh, Maryam, Moin, Mostafa, Arnaout, Rand, Alshareef, Saad, El-Baghdadi, Jamila, Genel, Ferah, Sherkat, Roya, Kiykim, Ayca, Yucel, Esra, Keles, Sevgi, Bustamante, Jacinta, Abel, Laurent, Casanova, Jean-Laurent, Boisson-Dupuis, Stephanie, Ogishi, Masato, Augusto Arias, Andres, Yang, Rui, Han, Ji Eun, Zhang, Peng, Rinchai, Darawan, Halpern, Joshua, Mulwa, Jeanette, Keating, Narelle, Chrabieh, Maya, Laine, Candice, Seeleuthner, Yoann, Ramirez-Alejo, Noe, Nekooie-Marnany, Nioosha, Guennoun, Andrea, Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Kilic, Sara S., Minegishi, Yoshiyuki, Ehl, Stephan, Kaiser-Labusch, Petra, Kendir-Demirkol, Yasemin, Rozenberg, Flore, Errami, Abderrahmane, Zhang, Shen-Ying, Zhang, Qian, Bohlen, Jonathan, Puel, Anne, Jouanguy, Emmanuelle, Pourmoghaddas, Zahra, Bakhtiar, Shahrzad, Willasch, Andre M., Horneff, Gerd, Llanora, Genevieve, Shek, Lynette P., Chai, Louis Y. A., Tay, Sen Hee, Rahimi, Hamid H., Mahdaviani, Seyed Alireza, Nepesov, Serdar, Bousfiha, Aziz A., Erdeniz, Emine Hafize, Karbuz, Adem, Marr, Nico, Navarrete, Carmen, Adeli, Mehdi, Hammarstrom, Lennart, Abolhassani, Hassan, Parvaneh, Nima, Al Muhsen, Saleh, Alosaimi, Mohammed F., Alsohime, Fahad, Nourizadeh, Maryam, Moin, Mostafa, Arnaout, Rand, Alshareef, Saad, El-Baghdadi, Jamila, Genel, Ferah, Sherkat, Roya, Kiykim, Ayca, Yucel, Esra, Keles, Sevgi, Bustamante, Jacinta, Abel, Laurent, Casanova, Jean-Laurent, and Boisson-Dupuis, Stephanie

Abstract

Human cells homozygous for rare loss-of-expression (LOE) TYK2 alleles have impaired, but not abolished, cellular responses to IFN-alpha/beta (underlying viral diseases in the patients) and to IL-12 and IL-23 (underlying mycobacterial diseases). Cells homozygous for the common P1104A TYK2 allele have selectively impaired responses to IL-23 (underlying isolated mycobacterial disease). We report three new forms of TYK2 deficiency in six patients from five families homozygous for rare TYK2 alleles (R864C, G996R, G634E, or G1010D) or compound heterozygous for P1104A and a rare allele (A928V). All these missense alleles encode detectable proteins. The R864C and G1010D alleles are hypomorphic and loss-of-function (LOF), respectively, across signaling pathways. By contrast, hypomorphic G996R, G634E, and A928V mutations selectively impair responses to IL-23, like P1104A. Impairment of the IL-23-dependent induction of IFN-gamma is the only mechanism of mycobacterial disease common to patients with complete TYK2 deficiency with or without TYK2 expression, partial TYK2 deficiency across signaling pathways, or rare or common partial TYK2 deficiency specific for IL-23 signaling.

Published
2022

6. Revisiting human IL-12R(beta)1 deficiency: a survey of 141 patients from 30 countries

Author

de Beaucoudrey, Ludovic, Samarina, Arina, Bustamante, Jacinta, Cobat, Aurelie, Boisson-Dupuis, Stephanie, Feinberg, Jacqueline, Al-Muhsen, Saleh, Janniere, Lucile, Rose, Yoann, de Suremain, Maylis, Kong, Xiao-Fei, Filipe-Santos, Orchidee, Chapgier, Ariane, Picard, Capucine, Fischer, Alain, Dogu, Figen, Ikinciogullari, Aydan, Tanir, Gonul, Al-Hajjar, Sami, Al-Jumaah, Suliman, Frayha, Husn H., AlSum, Zobaida, Al-Ajaji, Sulaiman, Alangari, Abdullah, Al-Ghonaium, Abdulaziz, Adimi, Parisa, Mansouri, Davood, Ben-Mustapha, Imen, Yancoski, Judith, Garty, Ben-Zion, Rodriguez-Gallego, Carlos, Caragol, Isabel, Kutukculer, Necil, Kumararatne, Dinakantha S., Patel, Smita, Doffinger, Rainer, Exley, Andrew, Jeppsson, Olle, Reichenbach, Janine, Nadal, David, Boyko, Yaryna, Pietrucha, Barbara, Anderson, Suzanne, Levin, Michael, Schandene, Liliane, Schepers, Kinda, Efira, Andre, Mascart, Francoise, Matsuoka, Masao, Sakai, Tatsunori, Siegrist, Claire-Anne, Frecerova, Klara, Bluetters-Sawatzki, Renate, Bernhoft, Jutta, Freihorst, Joachim, Baumann, Ulrich, Richter, Darko, Haerynck, Filomeen, De Baets, Frans, Novelli, Vas, Lammas, David, Vermylen, Christiane, Tuerlinckx, David, Nieuwhof, Chris, Pac, Malgorzata, Haas, Walther H., Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Levy, Jacob, Raj, Revathi, Cohen, Aileen Cleary, Lewis, David B., Holland, Steven M., Yang, Kuender D., Wang, Xiaochuan, Wang, Xiaohong, Jiang, Liping, Yang, Xiqiang, Zhu, Chaomin, Xie, Yuanyuan, Lee, Pamela Pui Wah, Chan, Koon Wing, Chen, Tong-Xin, Castro, Gabriela, Natera, Ivelisse, Codoceo, Ana, King, Alejandra, Bezrodnik, Liliana, Di Giovani, Daniela, Gaillard, Maria Isabel, de Moraes-Vasconcelos, Dewton, Grumach, Anete Sevciovic, da Silva Duarte, Alberto Jose, Aldana, Ruth, Espinosa-Rosales, Francisco Javier, Bejaoui, Mohammed, Bousfiha, Ahmed Aziz, El Baghdadi, Jamila, Ozbek, Namik, Aksu, Guzide, Keser, Melike, Somer, Ayper, Hatipoglu, Nevin, Aydogmus, Cigdem, Asilsoy, Suna, Camcioglu, Yildiz, Gulle, Saniye, Ozgur, Tuba T., Ozen, Meteran, Oleastro, Matias, Bernasconi, Andrea, Mamishi, Setareh, Parvaneh, Nima, Rosenzweig, Sergio, Barbouche, Ridha, Pedraza, Sigifredo, Lau, Yu Lung, Ehlayel, Mohammad S., Fieschi, Claire, Abel, Laurent, Sanal, Ozden, and Casanova, Jean-Laurent

Subjects
Interleukin-12 -- Physiological aspects, Interleukin-12 -- Abnormalities, Mycobacterial infections -- Risk factors, Mycobacterial infections -- Distribution, Mycobacterial infections -- Surveys, Disease susceptibility -- Surveys, Mendel's law -- Analysis, Company distribution practices
Published
2010

7. Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells

Author

Stephan, Volker, Wahn, Volker, Le Deist, Francoise, Dirksen, Uta, Broker, Barbara, Muller-Fleckenstein, Ingrid, Horneff, Gerd, Schroten, Horst, Fischer, Alain, and De Saint Basile, Genevieve

Subjects
Immunological deficiency syndromes -- Case studies, Gene mutations -- Genetic aspects
Abstract

A case is reported of a boy with X-linked severe combined immunodeficiency whose gene mutation spontaneously reverted to normal. This disease is caused by a gene mutation on the X chromosome that interferes with the development of T cells and B cells. He developed pneumonia at 6 months of age and was diagnosed with X-linked severe combined immunodeficiency at the age of 1 year. The diagnosis was made because his B cells contained the gene mutation. However, his T cells contained the normal gene, indicating that the mutation had reverted to normal during the early stages of T cell formation.

Published
1996

8. Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant

Author

Boisson-Dupuis, Stéphanie, primary, Ramirez-Alejo, Noe, additional, Li, Zhi, additional, Patin, Etienne, additional, Rao, Geetha, additional, Kerner, Gaspard, additional, Lim, Che Kang, additional, Krementsov, Dimitry N., additional, Hernandez, Nicholas, additional, Ma, Cindy S., additional, Zhang, Qian, additional, Markle, Janet, additional, Martinez-Barricarte, Ruben, additional, Payne, Kathryn, additional, Fisch, Robert, additional, Deswarte, Caroline, additional, Halpern, Joshua, additional, Bouaziz, Matthieu, additional, Mulwa, Jeanette, additional, Sivanesan, Durga, additional, Lazarov, Tomi, additional, Naves, Rodrigo, additional, Garcia, Patricia, additional, Itan, Yuval, additional, Boisson, Bertrand, additional, Checchi, Alix, additional, Jabot-Hanin, Fabienne, additional, Cobat, Aurélie, additional, Guennoun, Andrea, additional, Jackson, Carolyn C., additional, Pekcan, Sevgi, additional, Caliskaner, Zafer, additional, Inostroza, Jaime, additional, Costa-Carvalho, Beatriz Tavares, additional, de Albuquerque, Jose Antonio Tavares, additional, Garcia-Ortiz, Humberto, additional, Orozco, Lorena, additional, Ozcelik, Tayfun, additional, Abid, Ahmed, additional, Rhorfi, Ismail Abderahmani, additional, Souhi, Hicham, additional, Amrani, Hicham Naji, additional, Zegmout, Adil, additional, Geissmann, Frédéric, additional, Michnick, Stephen W., additional, Muller-Fleckenstein, Ingrid, additional, Fleckenstein, Bernhard, additional, Puel, Anne, additional, Ciancanelli, Michael J., additional, Marr, Nico, additional, Abolhassani, Hassan, additional, Balcells, María Elvira, additional, Condino-Neto, Antonio, additional, Strickler, Alexis, additional, Abarca, Katia, additional, Teuscher, Cory, additional, Ochs, Hans D., additional, Reisli, Ismail, additional, Sayar, Esra H., additional, El-Baghdadi, Jamila, additional, Bustamante, Jacinta, additional, Hammarström, Lennart, additional, Tangye, Stuart G., additional, Pellegrini, Sandra, additional, Quintana-Murci, Lluis, additional, Abel, Laurent, additional, and Casanova, Jean-Laurent, additional

Published
2018
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9. Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Author

Kreins, Alexandra Y., primary, Ciancanelli, Michael J., additional, Okada, Satoshi, additional, Kong, Xiao-Fei, additional, Ramírez-Alejo, Noé, additional, Kilic, Sara Sebnem, additional, El Baghdadi, Jamila, additional, Nonoyama, Shigeaki, additional, Mahdaviani, Seyed Alireza, additional, Ailal, Fatima, additional, Bousfiha, Aziz, additional, Mansouri, Davood, additional, Nievas, Elma, additional, Ma, Cindy S., additional, Rao, Geetha, additional, Bernasconi, Andrea, additional, Sun Kuehn, Hye, additional, Niemela, Julie, additional, Stoddard, Jennifer, additional, Deveau, Paul, additional, Cobat, Aurelie, additional, El Azbaoui, Safa, additional, Sabri, Ayoub, additional, Lim, Che Kang, additional, Sundin, Mikael, additional, Avery, Danielle T., additional, Halwani, Rabih, additional, Grant, Audrey V., additional, Boisson, Bertrand, additional, Bogunovic, Dusan, additional, Itan, Yuval, additional, Moncada-Velez, Marcela, additional, Martinez-Barricarte, Ruben, additional, Migaud, Melanie, additional, Deswarte, Caroline, additional, Alsina, Laia, additional, Kotlarz, Daniel, additional, Klein, Christoph, additional, Muller-Fleckenstein, Ingrid, additional, Fleckenstein, Bernhard, additional, Cormier-Daire, Valerie, additional, Rose-John, Stefan, additional, Picard, Capucine, additional, Hammarstrom, Lennart, additional, Puel, Anne, additional, Al-Muhsen, Saleh, additional, Abel, Laurent, additional, Chaussabel, Damien, additional, Rosenzweig, Sergio D., additional, Minegishi, Yoshiyuki, additional, Tangye, Stuart G., additional, Bustamante, Jacinta, additional, Casanova, Jean-Laurent, additional, and Boisson-Dupuis, Stéphanie, additional

Published
2015
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