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1. Abstracts from the 10th C1-inhibitor deficiency workshop

Author

Alvin H. Schmaier, Marco Cicardi, Avner Reshef, Dumitru Moldovan, Attila Mócsai, Margarita López-Trascasa, Alberto López Lera, Nancy J. Brown, Anastasios E. Germenis, Rafael Filippelli-Silva, Diego A. Duarte, Renan P. Martin, Camila L. Veronez, Michel Bouvier, Michael Bader, Claudio M. Costa-Neto, João Bosco Pesquero, Xavier Charest-Morin, François Marceau, Georges-É. Rivard, Arnaud Bonnefoy, Éric Wagner, Márta L. Debreczeni, Zsuzsanna Németh, Erika Kajdácsi, Endre Schwaner, László Cervenak, Gábor Oroszlán, András Szilágyi, Ráhel Dani, Péter Závodszky, Péter Gál, József Dobó, Jacques Hébert, Matthieu Vincent, Jean-Nicolas Boursiquot, Hugo Chapdeleine, Marylin Desjardins, Benoit Laramée, Rémi Gagnon, Nancy Payette, Oleksandra Lepeshkina, Delphine Charignon, Arije Ghannam, Denise Ponard, Christian Drouet, Kusumam Joseph, Baby G. Tholanikunnel, Daniel J. Sexton, Allen P. Kaplan, Stefania Loffredo, Maria Bova, Anne Lise Ferrara, Angelica Petraroli, Chiara Suffritti, Nóra Veszeli, Andrea Zanichelli, Henriette Farkas, Gianni Marone, Samuel Luyasu, Bertrand Favier, Ludovic Martin, Kinga Viktória Kőhalmi, György Temesszentandrási, Katalin Várnai, Lilian Varga, Bruce L. Zuraw, Annette Feussner, Michael A. Tortorici, Dipti Pawaskar, Huamin Henry Li, John Anderson, Jonathan A. Bernstein, Ying Zhang, Ingo Pragst, on behalf of COMPACT investigators, Emel Aygören-Pürsün, Kraig Jacobson, Jim Christensen, Arthur Van Leerberghe, Yi Wang, Jennifer Schranz, Inmaculada Martinez-Saguer, Daniel Soteres, Urs Steiner, Vesna Grivcheva Panovska, William Rae, Werner Aberer, Aarnoud Huissoon, Anette Bygum, Markus Magerl, Jochen Graff, Hilary Longhurst, Ramón Lleonart, Lei Fang, Melanie Cornpropst, Desiree Clemons, Amanda Mathis, Phil Collis, Sylvia Dobo, William P. Sheridan, Marcus Maurer, Marc A. Riedl, Timothy Craig, Aleena Banerji, Mustafa Shennak, William Yang, Jovanna Baptista, Paula Busse, Ira Kalfus, Andrew McDonald, Shawn Qian, Anthony Roberts, Con Panousis, Tim Green, Andreas Gille, Maria Zamanakou, Gedeon Loules, Dorottya Csuka, Fotis Psarros, Faidra Parsopoulou, Matthaios Speletas, Davide Firinu, Tiziana Maria Angela De Pasquale, Alessandra Zoli, Anna Radice, Stefano Pizzimenti, Emmanouil Manoussakis, George N. Konstantinou, Valeria Bafunno, Vincenzo Montinaro, Mauro Cancian, Maurizio Margaglione, Konrad Bork, Karin Wulff, Guenther Witzke, Jochen Hardt, Laurence Bouillet, Teresa Caballero, Anete S. Grumach, Christelle Pommie, Irmgard Andresen, Carmen Escuriola Ettingshausen, Zeynep Gutowski, Karin Andritschke, Richard Linde, Noémi Andrási, Tamás Szilágyi, Iris Leibovich-Nassi, Christine Symons, John Dempster, Isabelle Boccon-Gibod, Anne Pagnier, Audrey Lehmann, Kristian B. Kreiberg, Sandra A. Nieto, Raquel Martins, Renata Martins, Alejandra Menendez, Solange O. R. Valle, Margarita Olivares, Maria E. Hernandez-Landeros, Elma Nievas, Natalia Fili, Olga M. Barrera, René Bailleau, Ana Maria Gallardo-Olivos, Masumi Grau, Julian Rodriguez-Galindo, Marlon J. O. Carabantes, Edison Zapata-Venegas, Mario Martinez Alfonso, Maria Rosario-Grauert, Manuel Ratti, Daniel Vaszquez, Dario Josviack, Luis Fernando Landivar-Salinas, Oscar M. E. Calderón-Llosa, Rolando Campilay-Sarmiento, Pablo Raby, Jose Fabiani, William R. Lumry, Henrike Feuersenger, Douglas J. Watson, Thomas Machnig, on behalf of the Investigators of the COMPACT study, Donatella Lamacchia, Adriana Hernanz, Ana Alvez, Mariana Lluncor, Maria Pedrosa, Rosario Cabañas, Nieves Prior, Patrik Nordenfelt, Mats Nilsson, Anders Lindfors, Carl-Fredrik Wahlgren, Janne Björkander, Roman Hakl, Pavel Kuklínek, Irena Krčmová, Jana Hanzlíková, Martina Vachová, Radana Zachová, Marta Sobotková, Jana Strenková, Jiří Litzman, Maria Palasopoulou, Gerasimina Tsinti, Panagiota Gianni, Maria Kompoti, Sofia Garrido, Wojciech Dyga, Anna Bogdali, Aleksander Obtułowicz, Mikolajczyk Tomasz, Ewa Czarnobilska, Krystyna Obtulowicz, Teofila Książek, Anna Koncz, Dominik Gulyás, Maria Staevska, Milos Jesenak, Katarina Hrubiskova, L. Bellizzi, A. Relan, Maddalena A. Wu, Antonio Castelli, Riccardo Colombo, Gianmarco Podda, Marta Del Medico, Emanuele Catena, Francesco Casella, Francesca Perego, Nada Afifi Afifi, Eleonora Tobaldini, Nicola Montano, for the IOS Study Group, Marta Sánchez-Jareño, Marcin Stobiecki, Krystyna Obtułowicz, Irina Guryanova, Ekaterina Polyakova, Viktar Lebedz, Andrej Salivonchik, Svetlana Aleshkevich, Mikhail Belevtsev, Melanie Nordmann-Kleiner, Susanne Trainotti, Janina Hahn, Jens Greve, Liudmyla Zabrodska, Maria L. Oliva Alonso, Rosangela P. Tórtora, Alfeu T. França, Marcia G. Ribeiro, Lisa Fu, Amin Kanani, Gina Lacuesta, Susan Waserman, Stephen Betschel, Melissa I. Espinosa, Francisco A. Contreras, Martin Hrubisko, Ludmila Vavrova, Peter Banovcin, Maryam Ayazi, Mohammad Reza Fazlollahi, Shiva Saghafi, Sajedeh Mohammadian, Susan Nabilou Deshiry, Kiana Bidad, Raheleh Shokouhi Shoormasti, Iraj Mohammadzadeh, Mohammad Hassan Bemanian, Seyed Alireza Mahdaviani, Zahra Pourpak, Anna Valerieva, Mariela Vasileva, Tsvetelina Velikova, Elena Petkova, Vasil Dimitrov, Ruggero Di Maulo, on behalf of participating centers, Raz Somech, Hava Golander, Erika J. Sifuentes, Catherine Mansard, Anne Gompel, Bernard Floccard, Claire Blanchard-Delaunay, David Launay, Olivier Fain, Alain Sobel, Stéphane Gayet, Stéphanie Amarger, Guillaume Armengol, Yann Ollivier, Ariane Zélinsky-Gurung, Pierre-Yves Jeandel, Gisèle Kanny, Brigitte Coppéré, Marie Dubrel, Fabien Pelletier, Aurélie Du Thanh, Sébastien Trouiller, Jérôme Laurent, Claire De Moreuil, Christine Audouin Pajot, Alexandre Belot, Ana Rodríguez, Dasha Roa, Alicia Prieto, Maria Luisa Baeza, Borislava Krusheva, Stephanie K. A. Almeida, Rosemeire N. Constantino-Silva, Nyla Melo, Joanna Araujo Simoes, Sandra Mitie U. Palma, Jane da Silva, Bruna F. de Azevedo, Eli Mansour, Teresa González-Quevedo, Carmen Marcos, Teófilo Lobera, Blanca Sáenz de San Pedro, Ernie Avilla, Jacquie Badiou, Karen Binkley, Rozita Borici-Mazi, Linda Howlett, Paul K. Keith, Anne Rowe, Peter Waite, Aurore Billebeau, Isabelle Boccon-Gibbod, Kristina Lis, Yael Laitman, Eitan Friedman, N. M. Gokmen, O. Gulbahar, H. Onay, Z. P. Koc, and A. Z. Sin

Subjects
Immunologic diseases. Allergy, RC581-607
Published
2017
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2. Abstracts from the 10th C1-inhibitor deficiency workshop

Author

Mikhail Belevtsev, Jens Greve, Pierre-Yves Jeandel, Ana Maria Gallardo-Olivos, William R. Lumry, Yael Laitman, Marc A. Riedl, Jean-Nicolas Boursiquot, Dasha Roa, Péter Závodszky, Kraig Jacobson, Susanne Trainotti, Maria Staevska, Márcia Gonçalves Ribeiro, Zeynep Gutowski, François Marceau, Alejandra Menendez, Eric Wagner, Y. Ollivier, Alvin H. Schmaier, Rolando Campilay-Sarmiento, Amin S. Kanani, Valeria Bafunno, Christine Symons, Svetlana Aleshkevich, Stephanie K. A. Almeida, Kusumam Joseph, Teresa Caballero, Hava Golander, Nancy J. Brown, Xavier Charest-Morin, Peter Banovcin, Arnaud Bonnefoy, Sajedeh Mohammadian, Mustafa Shennak, William P. Sheridan, Ira Kalfus, Claudio M. Costa-Neto, Rafael Filippelli-Silva, Anete Sevciovic Grumach, Solange Oliveira Rodrigues Valle, Oscar M. E. Calderón-Llosa, Panagiota Gianni, Emel Aygören-Pürsün, Rosemeire Navickas Constantino-Silva, Zsuzsanna Németh, Irmgard Andresen, Konrad Bork, Mauro Cancian, Claire de Moreuil, Janne Björkander, Melissa I. Espinosa, Tamás Szilágyi, Maria Rosario-Grauert, Jane da Silva, Michael Bader, Ying Zhang, Jana Hanzlíková, Sylvia Dobo, Carl-Fredrik Wahlgren, Jacquie Badiou, Diego A. Duarte, Marta Del Medico, Stefania Loffredo, Avner Reshef, Maria Palasopoulou, Ludmila Vavrova, Marie Dubrel, Raheleh Shokouhi Shoormasti, Bruce L. Zuraw, Susan Nabilou Deshiry, Shiva Saghafi, Ekaterina Polyakova, Matthieu Vincent, Douglas J. Watson, Mohammad Reza Fazlollahi, Anne Rowe, Shawn Qian, Blanca Sáenz de San Pedro, Christelle Pommie, Sofía Garrido, Sandra Mitie Ueda Palma, András Szilágyi, Luis Fernando Landivar-Salinas, Audrey Lehmann, Maria L. Baeza, Kiana Bidad, Hugo Chapdeleine, Stéphane Gayet, Davide Firinu, Nancy Payette, Christine Pajot, Nyla Melo, Pavel Kuklínek, Pablo Raby, Nóra Veszeli, Ingo Pragst, Desiree Clemons, Anne Pagnier, Attila Mócsai, Carmen Escuriola Ettingshausen, Henrike Feuersenger, Noémi Andrási, Paul K. Keith, Phil Collis, Ernie Avilla, Olivier Fain, Iris Leibovich-Nassi, Dario O. Josviack, Jiří Litzman, Con Panousis, Denise Ponard, Sébastien Trouiller, Ráhel Dani, Francesco Casella, Ana Rodríguez, Isabelle Boccon-Gibod, Nada Afifi Afifi, Olga M. Barrera, Gina Lacuesta, Gian Marco Podda, Anne Lise Ferrara, Samuel Luyasu, Ludovic Martin, Patrik Nordenfelt, Linda Howlett, William H. Yang, Sandra A. Nieto, Anders Lindfors, Zahra Pourpak, Stéphanie Amarger, Adriana Hernanz, Jochen Hardt, Julian Rodriguez-Galindo, Claire Blanchard-Delaunay, Antonio Castelli, Marta Sánchez-Jareño, Renata Martins, Bertrand Favier, Yi Wang, Rosario Cabañas, Anthony Roberts, Renan Paulo Martin, Alexandre Belot, Vincenzo Montinaro, Eitan Friedman, João Bosco Pesquero, Maria Kompoti, Bruna Franca Azevedo, Mikolajczyk Tomasz, Georges-É. Rivard, Katalin Várnai, Gábor Oroszlán, Arije Ghannam, David Launay, Fotis Psarros, Manuel Ratti, Maria Luiza Oliva Alonso, Bernard Floccard, Mariana Lluncor, Karen Binkley, Gianni Marone, Anne Gompel, Dominik Gulyás, John Dempster, Liudmyla Zabrodska, Emanuele Catena, Anna Bogdali, Irina Guryanova, Andrej Salivonchik, Camila Lopes Veronez, L. Fang, Eleonora Tobaldini, Lilian Varga, Chiara Suffritti, Daniel Vaszquez, Peter Waite, Maria Zamanakou, Ana Alvez, Laurence Bouillet, Péter Gál, Susan Waserman, Krystyna Obtułowicz, Marcin Stobiecki, Alain Sobel, Karin Wulff, A. Z. Sin, Margarita Olivares, Dipti Pawaskar, Mats Nilsson, Endre Schwaner, Brigitte Coppere, Anna Valerieva, Remi Gagnon, Marlon J. O. Carabantes, Stefano Pizzimenti, H. Onay, Paula J. Busse, Delphine Charignon, William Rae, Marco Cicardi, Kinga Viktória Kőhalmi, Inmaculada Martinez-Saguer, Daniel J. Sexton, Matthaios Speletas, Aarnoud Huissoon, René Bailleau, Fabien Pelletier, Elena Petkova, Joanna Araujo Simoes, Guillaume Armengol, Amanda Mathis, Rosangela P. Tortora, Raz Somech, Andreas Gille, Anastasios E. Germenis, Martin Hrubisko, Marylin Desjardins, Dorottya Csuka, María Pedrosa, Jose Fabiani, Stephen Betschel, Timothy J. Craig, Vasil Dimitrov, Andrew McDonald, Alberto López Lera, Márta L. Debreczeni, Eli Mansour, Teofila Książek, Teófilo Lobera, Rozita Borici-Mazi, O. Gulbahar, Aleena Banerji, Jochen Graff, Marta Sobotkova, Annette Feussner, Andrea Zanichelli, Ewa Czarnobilska, Anna Koncz, Milos Jesenak, Edison Zapata-Venegas, Aurore Billebeau, Gedeon Loules, Melanie Nordmann-Kleiner, Werner Aberer, Richard Linde, Guenther Witzke, Kristina Lis, Markus Magerl, Jana Strenková, Emmanouil Manoussakis, József Dobó, Viktar Lebedz, Masumi Grau, Raquel Martins, Melanie Cornpropst, Jovanna Baptista, Marcus Maurer, Dumitru Moldovan, György Temesszentandrási, Isabelle Boccon-Gibbod, Thomas Machnig, C Marcos, Erika Kajdácsi, Tim Green, John Anderson, Karin Andritschke, D. Soteres, Riccardo Colombo, Mario Martinez Alfonso, Anna Radice, Huamin Henry Li, Tsvetelina Velikova, Ruggero Di Maulo, Mariela Borisova Vasileva, Angelica Petraroli, Francesca Perego, Francisco A. Contreras, Roman Hakl, Urs C. Steiner, Anurag Relan, N. Prior, Irena Krčmová, Jennifer Schranz, Martina Vachová, Baby G. Tholanikunnel, R. Lleonart, Maria Bova, Allen P. Kaplan, N. M. Gokmen, Nicola Montano, Margarita López-Trascasa, Tiziana Maria Angela De Pasquale, Alicia Prieto, Kristian Buur Kreiberg, Mohammad Hassan Bemanian, Alessandra Zoli, Michael A. Tortorici, Erika J. Sifuentes, László Cervenak, Borislava Krusheva, Maria E. Hernandez-Landeros, Wojciech Dyga, Oleksandra Lepeshkina, Elma Nievas, L. Bellizzi, Christian Drouet, C. Mansard, Michel Bouvier, Aurélie Du Thanh, Donatella Lamacchia, Janina Hahn, Radana Zachova, Iraj Mohammadzadeh, T González-Quevedo, Z. P. Koc, Jacques Hébert, Hilary Longhurst, Maddalena Alessandra Wu, Ariane Zélinsky-Gurung, Jim Christensen, Maurizio Margaglione, Maryam Ayazi, Vesna Grivcheva Panovska, Faidra Parsopoulou, Jonathan A. Bernstein, Anette Bygum, Seyed Alireza Mahdaviani, Henriette Farkas, Aleksander Obtułowicz, Natalia Fili, Gisèle Kanny, Gerasimina Tsinti, Alfeu Tavares França, George N. Konstantinou, Benoit Laramée, Katarina Hrubiskova, Lisa Fu, J. Laurent, and Arthur Van Leerberghe

Subjects
lcsh:Immunologic diseases. Allergy, 0301 basic medicine, 03 medical and health sciences, 030102 biochemistry & molecular biology, C1 inhibitor deficiency, business.industry, Immunology, Medicine, General Medicine, lcsh:RC581-607, business, Meeting Abstracts
Published
2017
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3. Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections

Author

Mohammed A. Sadat, Susan Moir, Tae-Wook Chun, Paolo Lusso, Gerardo Kaplan, Lynne Wolfe, Matthew J. Memoli, Miao He, Hugo Vega, Leo J.Y. Kim, Yan Huang, Nadia Hussein, Elma Nievas, Raquel Mitchell, Mary Garofalo, Aaron Louie, Derek C. Ireland, Claire Grunes, Raffaello Cimbro, Vyomesh Patel, Genevieve Holzapfel, Daniel Salahuddin, Tyler Bristol, David Adams, Beatriz E. Marciano, Madhuri Hegde, Yuxing Li, Katherine R. Calvo, Jennifer Stoddard, J. Shawn Justement, Jerome Jacques, Debra A. Long Priel, Danielle Murray, Peter Sun, Douglas B. Kuhns, Cornelius F. Boerkoel, John A. Chiorini, Giovanni Di Pasquale, Daniela Verthelyi, and Sergio D. Rosenzweig

Subjects
Male, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Immunoglobulins, Antibodies, Viral, Article, Hypogammaglobulinemia, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Agammaglobulinemia, immune system diseases, medicine, Humans, Child, Gene, Disease Resistance, biology, business.industry, Endoplasmic reticulum, alpha-Glucosidases, General Medicine, medicine.disease, Phenotype, Virology, chemistry, Viral replication, Virus Diseases, Immunology, biology.protein, Female, Antibody, business, Congenital disorder of glycosylation
Abstract

Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG. MOGS is expressed in the endoplasmic reticulum and is involved in the trimming of N-glycans. We evaluated two siblings with CDG-IIb who presented with multiple neurologic complications and a paradoxical immunologic phenotype characterized by severe hypogammaglobulinemia but limited clinical evidence of an infectious diathesis. A shortened immunoglobulin half-life was determined to be the mechanism underlying the hypogammaglobulinemia. Impaired viral replication and cellular entry may explain a decreased susceptibility to infections.

Published
2014
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4. Comment on: advances in primary immunodeficiency diseases in Latin America: epidemiology, research, and perspectives. Ann. N.Y. Acad. Sci. 1250: 62-72 (2012)

Author

Marta, Zelazko, Diana, Liberatore, Miguel, Galicchio, Nestor, Pérez, Lorena, Regairaz, Matías, Oleastro, Silvia, Danielian, Liliana, Beroznik, Daniela, Di Giovani, Carlos, Riganti, Hector, Diaz, Claudio, Cantisano, Liliana Castro, Zorrilla, and Elma, Nievas

Subjects
Biomedical Research, Common Variable Immunodeficiency, Humans, Societies, Medical
Published
2013

5. Comment on: Advances in primary immunodeficiency diseases in Latin America: epidemiology, research, and perspectives.Ann. N.Y. Acad. Sci. 1250: 62-72 (2012)

Author

Silvia Danielian, Miguel Galicchio, Daniela Di Giovani, Marta Zelazko, Néstor Pérez, Matías Oleastro, Elma Nievas, Claudio Cantisano, Lorena Regairaz, Diana Liberatore, Héctor Díaz, Carlos Riganti, Liliana Castro Zorrilla, and Liliana Beroznik

Subjects
Gerontology, medicine.medical_specialty, Latin Americans, History and Philosophy of Science, business.industry, General Neuroscience, Epidemiology, medicine, Primary immunodeficiency, business, medicine.disease, General Biochemistry, Genetics and Molecular Biology
Published
2013
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6. Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Author

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

Subjects
Male, Adolescent, T-Lymphocytes, Immunology, Immunoglobulin E, Mucocutaneous Candidiasis, Interleukin-23, Inflammatory bowel disease, Article, Interferon-gamma, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genotype, Leukocytes, medicine, Humans, Immunology and Allergy, Child, 030304 developmental biology, TYK2 Kinase, Mycobacterium Infections, 0303 health sciences, biology, Interleukin-6, Infant, Atopic dermatitis, medicine.disease, Interleukin-12, Phenotype, Interleukin-10, 3. Good health, Virus Diseases, Tyrosine kinase 2, Case-Control Studies, Child, Preschool, Mutation, biology.protein, Female, Job Syndrome, Leukemia inhibitory factor, 030215 immunology
Abstract

Kreins et al. report the identification and immunological characterization of a group of TYK2-deficient patients., Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, and staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families and four different ethnic groups. These patients were homozygous for one of five null mutations, different from that seen in P1. They displayed mycobacterial and/or viral infections, but no HIES. All eight TYK2-deficient patients displayed impaired but not abolished cellular responses to (a) IL-12 and IFN-α/β, accounting for mycobacterial and viral infections, respectively; (b) IL-23, with normal proportions of circulating IL-17+ T cells, accounting for their apparent lack of mucocutaneous candidiasis; and (c) IL-10, with no overt clinical consequences, including a lack of inflammatory bowel disease. Cellular responses to IL-21, IL-27, IFN-γ, IL-28/29 (IFN-λ), and leukemia inhibitory factor (LIF) were normal. The leukocytes and fibroblasts of all seven newly identified TYK2-deficient patients, unlike those of P1, responded normally to IL-6, possibly accounting for the lack of HIES in these patients. The expression of exogenous wild-type TYK2 or the silencing of endogenous TYK2 did not rescue IL-6 hyporesponsiveness, suggesting that this phenotype was not a consequence of the TYK2 genotype. The core clinical phenotype of TYK2 deficiency is mycobacterial and/or viral infections, caused by impaired responses to IL-12 and IFN-α/β. Moreover, impaired IL-6 responses and HIES do not appear to be intrinsic features of TYK2 deficiency in humans.

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