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Your search keyword '"Luigi D. Notarangelo"' showing total 37 results
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37 results on '"Luigi D. Notarangelo"'

1. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

Author

Astrid Marchal, Elizabeth T. Cirulli, Iva Neveux, Evangelos Bellos, Ryan S. Thwaites, Kelly M. Schiabor Barrett, Yu Zhang, Ivana Nemes-Bokun, Mariya Kalinova, Andrew Catchpole, Stuart G. Tangye, András N. Spaan, Justin B. Lack, Jade Ghosn, Charles Burdet, Guy Gorochov, Florence Tubach, Pierre Hausfater, Clifton L. Dalgard, Shen-Ying Zhang, Qian Zhang, Christopher Chiu, Jacques Fellay, Joseph J. Grzymski, Vanessa Sancho-Shimizu, Laurent Abel, Jean-Laurent Casanova, Aurélie Cobat, Alexandre Bolze, Alessandro Aiuti, Saleh Al-Muhsen, Fahd Al-Mulla, Ali Amara, Mark S. Anderson, Evangelos Andreakos, Andrés A. Arias, Lisa M. Arkin, Hagit Baris Feldman, Paul Bastard, Alexandre Belot, Catherine M. Biggs, Dusan Bogunovic, Anastasiia Bondarenko, Alessandro Borghesi, Ahmed A. Bousfiha, Petter Brodin, Yenan Bryceson, Manish J. Butte, Giorgio Casari, John Christodoulou, Roger Colobran, Antonio Condino-Neto, Stefan N. Constantinescu, Megan A. Cooper, Murkesh Desai, Beth A. Drolet, Xavier Duval, Jamila El Baghdadi, Philippine Eloy, Sara Espinosa-Padilla, Carlos Flores, José Luis Franco, Antoine Froidure, Peter K. Gregersen, Bodo Grimbacher, Filomeen Haerynck, David Hagin, Rabih Halwani, Lennart Hammarström, James R. Heath, Elena W.Y. Hsieh, Eystein Husebye, Kohsuke Imai, Yuval Itan, Emmanuelle Jouanguy, Elżbieta Kaja, Timokratis Karamitros, Kai Kisand, Cheng-Lung Ku, Yu-Lung Lau, Yun Ling, Carrie L. Lucas, Tom Maniatis, Davood Mansouri, László Maródi, France Mentré, Isabelle Meyts, Joshua D. Milner, Kristina Mironska, Trine H. Mogensen, Tomohiro Morio, Lisa F.P. Ng, Luigi D. Notarangelo, Antonio Novelli, Giuseppe Novelli, Cliona O'Farrelly, Satoshi Okada, Keisuke Okamoto, Tayfun Ozcelik, Qiang Pan-Hammarström, Jean W. Pape, Rebeca Perez de Diego, Jordi Perez-Tur, David S. Perlin, Graziano Pesole, Anna M. Planas, Carolina Prando, Aurora Pujol, Anne Puel, Lluis Quintana-Murci, Sathishkumar Ramaswamy, Laurent Renia, Igor Resnick, Carlos Rodríguez-Gallego, Anna Sediva, Mikko R.J. Seppänen, Mohammad Shahrooei, Anna Shcherbina, Ondrej Slaby, Andrew L. Snow, Pere Soler-Palacín, Vassili Soumelis, Ivan Tancevski, Ahmad Abou Tayoun, Şehime Gülsün Temel, Christian Thorball, Pierre Tiberghien, Sophie Trouillet-Assant, Stuart E. Turvey, K. M. Furkan Uddin, Mohammed J. Uddin, Diederik van de Beek, Donald C. Vinh, Horst von Bernuth, Joost Wauters, Mayana Zatz, Pawel Zawadzki, Serge Bureau, Yannick Vacher, Anne Gysembergh-Houal, Lauren Demerville, Abla Benleulmi-Chaachoua, Sebastien Abad, Radhiya Abassi, Abdelrafie Abdellaoui, Abdelkrim Abdelmalek, Hendy Abdoul, Helene Abergel, Fariza Abeud, Sophie Abgrall, Noemie Abisror, Marylise Adechian, Nordine Aderdour, Hakeem Farid Admane, Frederic Adnet, Sara Afritt, Helene Agostini, Claire Aguilar, Sophie Agut, Tommaso Francesco Aiello, Marc Ait Kaci, Hafid Ait Oufella, Gokula Ajeenthiravasan, Virginie Alauzy, Fanny Alby-Laurent, Lucie Allard, Marie-Alexandra Alyanakian, Blanca Amador Borrero, Sabrina Amam, Lucile Amrouche, Marc Andronikof, Dany Anglicheau, Nadia Anguel, Djillali Annane, Mohammed Aounzou, Caroline Aparicio, Gladys Aratus, Jean-Benoit Arlet, Jeremy Arzoine, Elisabeth Aslangul, Mona Assefi, Adeline Aubry, Laetitia Audiffred, Etienne Audureau, Christelle Nathalie Auger, Jean-Charles Auregan, Celine Awotar, Sonia Ayllon Milla, Delphine Azan, Laurene Azemar, Billal Azzouguen, Marwa Bachir Elrufaai, Aïda Badsi, Prissile Bakouboula, Coline Balcerowiak, Fanta Balde, Elodie Baldivia, Eliane-Flore Bangamingo, Amandine Baptiste, Fanny Baran-Marszak, Caroline Barau, Nathalie Barget, Flore Baronnet, Romain Barthelemy, Jean-Luc Baudel, Camille Baudry, Elodie Baudry, Laurent Beaugerie, Adel Belamri, Nicolas Belaube, Rhida Belilita, Pierre Bellassen, Rawan Belmokhtar, Isabel Beltran, Ruben Benainous, Mourad Benallaoua, Robert Benamouzig, Amélie Benbara, Jaouad Benhida, Anis Benkhelouf, Jihene Benlagha, Chahinez Benmostafa, Skander Benothmane, Miassa Bentifraouine, Laurence Berard, Quentin Bernier, Enora Berti, Astrid Bertier, Laure Berton, Simon Bessis, Alexandra Beurton, Celine Bianco, Clara Bianquis, Frank Bidar, Philippe Blanche, Clarisse Blayau, Alexandre Bleibtreu, Emmanuelle Blin, Coralie Bloch-Queyrat, Marie-Christophe Boissier, Diane Bollens, Marion Bolzoni, Rudy pierre Bompard, Nicolas Bonnet, Justine Bonnouvrier, Shirmonecrystal Botha, Wissam Boucenna, Fatiha Bouchama, Olivier Bouchaud, Hanane Bouchghoul, Taoueslylia Boudjebla, Noel Boudjema, Catherine Bouffard, Adrien Bougle, Meriem Bouguerra, Leila Bouras, Agnes Bourcier, Anne Bourgarit Durand, Anne Bourrier, Fabrice Bouscarat, Diane Bouvry, Nesrine Bouziri, Ons Bouzrara, Sarah Bribier, Delphine Brugier, Melanie Brunel, Eida Bui, Anne Buisson, Iryna Bukreyeva, Côme Bureau, Jacques Cadranel, Johann Cailhol, Ruxandra Calin, Clara Campos Vega, Pauline Canavaggio, Marta Cancella, Delphine Cantin, Albert Cao, Lionel Carbillon, Nicolas Carlier, Clementine Cassard, Guylaine Castor, Marion Cauchy, Olivier Cha, Benjamin Chaigne, Salima Challal, Karine Champion, Patrick Chariot, Julie Chas, Simon Chauveau, Anthony Chauvin, Clement Chauvin, Nathalie Chavarot, Kamélia Chebbout, Mustapha Cherai, Ilaria Cherubini, Amelie Chevalier, Thibault Chiarabini, Thierry Chinet, Richard Chocron, Pascaline Choinier, Juliette Chommeloux, Christophe Choquet, Laure Choupeaux, Benjamin Chousterman, Dragosmarius Ciocan, Ada Clarke, Gaëlle Clavere, Florian Clavier, Karine Clement, Sebastien Clerc, Yves Cohen, Fleur Cohen, Adrien Cohen, Audrey Coilly, Hester Colboc, Pauline Colin, Magalie Collet, Chloé Comarmond, Emeline Combacon, Alain Combes, Celine Comparon, Jean-Michel Constantin, Hugues Cordel, Anne-Gael Cordier, Adrien Costantini, Nathalie Costedoat Chalumeau, Camille Couffignal, Doriane Coupeau, Alain Creange, Yannie Cuvillier Lamarre, Charlène Da Silveira, Sandrine Dautheville Guibal El Kayani, Nathalie De Castro, Yann De Rycke, Lucie Del Pozo, Quentin Delannoy, Mathieu Delay, Robin Deleris, Juliette Delforge, Laëtitia Delphine, Noemie Demare, Sophie Demeret, Alexandre Demoule, Aurore Deniau, François Depret, Sophie Derolez, Ouda Derradji, Nawal Derridj, Vincent Descamps, Lydia Deschamps, Celine Desconclois, Cyrielle Desnos, Karine Desongins, Robin Dhote, Benjamin Diallo, Morgane Didier, Myriam Diemer, Stephane Diez, Juliette Djadi-Prat, Fatima-Zohra Djamouri Monnory, Siham Djebara, Naoual Djebra, Minette Djietcheu, Hadjer Djillali, Nouara Djouadi, Severine Donneger, Catarina Dos Santos, Nathalie Dournon, Martin Dres, Laura Droctove, Marie Drogrey, Margot Dropy, Elodie Drouet, Valérie Dubosq, Evelyne Dubreucq, Estelle Dubus, Boris Duchemann, Thibault Duchenoy, Emmanuel Dudoignon, Romain Dufau, Florence Dumas, Clara Duran, Emmanuelle Duron, Antoine Durrbach, Claudine Duvivier, Nathan Ebstein, Jihane El Khalifa, Alexandre Elabbadi, Caroline Elie, Gabriel Ernotte, Anne Esling, Martin Etienne, Xavier Eyer, Muriel Sarah Fartoukh, Takoua Fayali, Marion Fermaut, Arianna Fiorentino, Souha Fliss, Marie-Céline Fournier, Benjamin Fournier, Hélène Francois, Olivia Freynet, Yvann Frigout, Isaure Fromont, Axelle Fuentes, Thomas Furet, Joris Galand, Marc Garnier, Agnes Gaubert, Stéphane Gaudry, Samuel Gaugain, Damien Gauthier, Maxime Gautier, Sophie Georgin-Lavialle, Daniela Geromin, Mohamed Ghalayini, Bijan Ghaleh, Myriam Ghezal, Aude Gibelin, Linda Gimeno, Benoit Girard, Bénédicte Giroux Leprieur, Doryan Gomes, Elisabete Gomes-Pires, Anne Gouge, Amel Gouja, Helene Goulet, Sylvain Goupil, Jeanne Goupil De Bouille, Julien Gras, Segolene Greffe, Lamiae Grimaldi, Paul Guedeney, Bertrand Guidet, Matthias Guillo, Mariechristelle Gulczynski, Tassadit Hadjam, Didier Haguenauer, Soumeya Hammal, Nadjib Hammoudi, Olivier Hanon, Anarole Harrois, Coraline Hautem, Guillaume Hekimian, Nicholas Heming, Olivier Hermine, Sylvie Ho, Marie Houllier, Benjamin Huot, Tessa Huscenot, Wafa Ibn Saied, Ghilas Ikherbane, Meriem Imarazene, Patrick Ingiliz, Lina Iratni, Stephane Jaureguiberry, Jean-Francois Jean-Marc, Deleena Jeyarajasingham, Pauline Jouany, Veronique Jouis, Clement Jourdaine, Ouifiya Kafif, Rim Kallala, Sandrine Katsahian, Lilit Kelesyan, Vixra Keo, Flora Ketz, Warda Khamis, Enfel Khelili, Mehdi Khellaf, Christy Gaëlla Kotokpo Youkou, Ilias Kounis, Gaelle Kpalma, Jessica Krause, Vincent Labbe, Karine Lacombe, Jean-Marc Lacorte, Anne Gaelle Lafont, Emmanuel Lafont, Lynda Lagha, Lionel Lamhaut, Aymeric Lancelot, Cecilia Landman, Fanny Lanternier, Cecile Larcheveque, Caroline Lascoux Combe, Ludovic Lassel, Benjamin Laverdant, Christophe Lavergne, Jean-Rémi Lavillegrand, Pompilia Lazureanu, Loïc Le Guennec, Lamia Leberre, Claire Leblanc, Marion Leboyer, Francois Lecomte, Marine Lecorre, Romain Leenhardt, Marylou Lefebvre, Bénédicte Lefebvre, Paul Legendre, Anne Leger, Laurence Legros, Justyna Legrosse, Sébastien Lehuunghia, Julien Lemarec, Jeremie Leporrier-Ext, Manon Lesein, Hubert Lesur, Vincent Levy, Albert Levy, Edwige Lopes, Amanda Lopes, Vanessa Lopez, Julien Lopinto, Olivier Lortholary, Badr Louadah, Bénédicte Loze, Marie-Laure Lucas, Axelle Lucasamichi, Liem Binh Luong, Arouna Magazimama-Ext, David Maingret, Lakhdar Mameri, Philippe Manivet, Cylia Mansouri, Estelle Marcault, Jonathan Marey, Nathalie Marin, Clémence Marois, Olivier Martin, Lou Martineau, Cannelle Martinez-Lopez, Pierre Martyniuck, Pauline Mary De Farcy, Nessrine Marzouk, Rafik Masmoudi, Alexandre Mebazaa, Frédéric Mechai, Fabio Mecozzi, Chamseddine Mediouni, Bruno Megarbane, Mohamed Meghadecha, Élodie Mejean, Arsene Mekinian, Nour Mekki Abdelhadi, Rania Mekni, Thinhinan Sabrina Meliti, Breno Melo Lima, Paris Meng, Soraya Merbah, Fadhila Messani, Yasmine Messaoudi, Baboo-Irwinsingh Mewasing, Lydia Meziane, Carole Michelot-Burger, Françoise Mignot, Fadi Hillary Minka, Makoto Miyara, Pierre Moine, Jean-Michel Molina, Anaïs Montegnies-Boulet, Alexandra Monti, Claire Montlahuc, Anne-Lise Montout, Alexandre Moores, Caroline Morbieu, Helene Mortelette, Stéphane Mouly, Rosita Muzaffar, Cherifa Iness Nacerddine, Marine Nadal, Hajer Nadif, Kladoum Nassarmadji, Pierre Natella, Sandrine Ndingamondze, Stefan Neraal, Caroline Nguyen, Bao N'Guyen, Isabelle Nion Larmurier, Luc Nlomenyengue, Nicolas Noel, Hilario Nunes, Edris Omar, Zineb Ouazene, Elise Ouedraogo, Wassila Ouelaa, Anissa Oukhedouma, Yasmina Ould Amara, Herve Oya, Johanna Oziel, Thomas Padilla, Elena Paillaud, Solenne Paiva, Beatrice Parfait, Perrine Parize, Christophe Parizot, Antoine Parrot, Arthur Pavot, Laetitia Peaudecerf, Frédéric Pene, Marion Pepin, Julie Pernet, Claire Pernin, Mylène Petit, Olivier Peyrony, Marie-Pierre Pietri, Olivia Pietri, Marc Pineton De Chambrun, Michelle Pinson, Claire Pintado, Valentine Piquard, Christine Pires, Benjamin Planquette, Sandrine Poirier, Anne-Laure Pomel, Stéphanie Pons, Diane Ponscarme, Annegaelle Pourcelot, Valérie Pourcher, Anne Pouvaret, Florian Prever, Miresta Previlon, Margot Prevost, Marie-Julie Provoost, Cyril Quemeneur, Cédric Rafat, Agathe Rami, Brigitte Ranque, Maurice Raphael, Jean Herle Raphalen, Anna Rastoin, Mathieu Raux, Amani Rebai, Michael Reby, Alexis Regent, Asma Regrag, Matthieu Resche-Rigon, Quentin Ressaire, Christian Richard, Mariecaroline Richard, Maxence Robert, Benjamin Rohaut, Camille Rolland-Debord, Jacques Ropers, Anne-Marie Roque-Afonso, Charlotte Rosso, Mélanie Rousseaux, Nabila Rousseaux, Swasti Roux, Lorène Roux, Claire Rouzaud, Antoine Rozes, Emma Rubenstein, Jean-Marc Sabate, Sheila Sabet, Sophie-Caroline Sacleux, Nathalie Saidenberg Kermanach, Faouzi Saliba, Dominique Salmon, Laurent Savale, Guillaume Savary, Rebecca Sberro, Anne Scemla, Frederic Schlemmer, Mathieu Schwartz, Saïd Sedfi, Samia Sefir-Kribel, Philippe Seksik, Pierre Sellier, Agathe Selves, Nicole Sembach, Luca Semerano, Marie-Victoire Senat, Damien Sene, Alexandra Serris, Lucile Sese, Naima Sghiouar, Johanna Sigaux, Martin Siguier, Johanne Silvain, Noémie Simon, Tabassome Simon, Lina Innes Skandri, Miassa Slimani, Aurélie Snauwaert, Harry Sokol, Heithem Soliman, Nisrine Soltani, Benjamin Soyer, Gabriel Steg, Lydia Suarez, Tali-Anne Szwebel, Kossi Taffame, Yacine Tandjaoui-Lambiotte, Claire Tantet, Mariagrazia Tateo, Igor Theodose, Pierre clement Thiebaud, Caroline Thomas, Kelly Tiercelet, Julie Tisserand, Carole Tomczak, Krystel Torelino, Fatima Touam-Ext, Lilia Toumi, Gustave Toury, Mireille Toy-Miou, Olivia Tran Dinh Thanh Lien, Alexy Trandinh, Jean-Marc Treluyer, Baptiste Trinque, Jennifer Truchot, Sarah Tubiana, Simone Tunesi, Matthieu Turpin, Agathe Turpin, Tomas Urbina, Rafael Usubillaga Narvaez, Yurdagul Uzunhan, Prabakar Vaittinadaayar, Arnaud Valent, Maelle Valentian, Nadia Valin, Hélène Vallet, Marina Vaz, Miguel-Alejandro Vazquezibarra, Benoit Vedie, Laetitia Velly, Celine Verstuyft, Cedric Viallette, Eric Vicaut, Dorothee Vignes, Damien Vimpere, Myriam Virlouvet, Guillaume Voiriot, Lena Voisot, Emmanuel Weiss, Nicolas Weiss, Anaïs Winchenne, Youri Yordanov, Lara Zafrani, Mohamad Zaidan, Wissem Zaidi, Cathia Zak, Aida Zarhrate-Ghoul, Ouassila Zatout, Suzanne Zeino, Michel Zeitouni, Naïma Zemirli, Lorene Zerah, Ounsa Zia, Marianne Ziol, Oceane Zolario, Julien Zuber, Claire Andrejak, François Angoulvant, Delphine Bachelet, Marie Bartoli, Romain Basmaci, Sylvie Behillil, Marine Beluze, Dehbia Benkerrou, Krishna Bhavsar, Lila Bouadma, Sabelline Bouchez, Maude Bouscambert, Minerva Cervantes-Gonzalez, Anissa Chair, Catherine Chirouze, Alexandra Coelho, Sandrine Couffin-Cadiergues, Eric d’Ortenzio, Marie-Pierre Debray, Laurene Deconinck, Dominique Deplanque, Diane Descamps, Mathilde Desvallée, Alpha Diallo, Alphonsine Diouf, Céline Dorival, François Dubos, Brigitte Elharrar, Vincent Enouf, Hélène Esperou, Marina Esposito-Farese, Manuel Etienne, Eglantine Ferrand Devouge, Nathalie Gault, Alexandre Gaymard, Tristan Gigante, Morgane Gilg, Jérémie Guedj, Alexandre Hoctin, Isabelle Hoffmann, Ikram Houas, Jean-Sébastien Hulot, Salma Jaafoura, Florentia Kaguelidou, Sabrina Kali, Antoine Khalil, Coralie Khan, Cédric Laouénan, Samira Laribi, Minh Le, Quentin Le Hingrat, Soizic Le Mestre, Hervé Le Nagard, François-Xavier Lescure, Sophie Letrou, Yves Levy, Bruno Lina, Guillaume Lingas, Jean-Christophe Lucet, Denis Malvy, Marina Mambert, Amina Meziane, Hugo Mouquet, Jimmy Mullaert, Nadège Neant, Duc Nguyen, Marion Noret, Saad Nseir, Aurélie Papadopoulos, Christelle Paul, Nathan Peiffer-Smadja, Thomas Perpoint, Ventzislava Petrov-Sanchez, Gilles Peytavin, Huong Pham, Olivier Picone, Oriane Puéchal, Christian Rabaud, Manuel Rosa-Calatrava, Bénédicte Rossignol, Patrick Rossignol, Carine Roy, Marion Schneider, Richa Su, Coralie Tardivon, Marie-Capucine Tellier, François Téoulé, Olivier Terrier, Jean-François Timsit, Christelle Tual, Sylvie Van Der Werf, Noémie Vanel, Aurélie Veislinger, Benoit Visseaux, Aurélie Wiedemann, Yazdan Yazdanpanah, Loubna Alavoine, Charlotte Charpentier, Aline Dechanet, Jean-Luc Ecobichon, Wahiba Frezouls, Nadhira Houhou, Jonathan Lehacaut, Pauline Manchon, Mariama Nouroudine, Caroline Quintin, Michael Thy, Sylvie van der Werf, Valérie Vignali, Abir Chahine, Nawal Waucquier, Maria-Claire Migaud, Félix Djossou, Mayka Mergeay-Fabre, Aude Lucarelli, Magalie Demar, Léa Bruneau, Patrick Gérardin, Adrien Maillot, Christine Payet, Bruno Laviolle, Fabrice Laine, Christophe Paris, Mireille Desille-Dugast, Julie Fouchard, Thierry Pistone, Pauline Perreau, Valérie Gissot, Carole L.E. Goas, Samatha Montagne, Lucie Richard, Kévin Bouiller, Maxime Desmarets, Alexandre Meunier, Marilou Bourgeon, Benjamin Lefévre, Hélène Jeulin, Karine Legrand, Sandra Lomazzi, Bernard Tardy, Amandine Gagneux-Brunon, Frédérique Bertholon, Elisabeth Botelho-Nevers, Christelle Kouakam, Leturque Nicolas, Layidé Roufai, Karine Amat, Hélène Espérou, Samia Hendou, Giuseppe Foti, Giuseppe Citerio, Ernesto Contro, Alberto Pesci, Maria Grazia Valsecchi, Marina Cazzaniga, Giacomo Bellani, Jorge Abad, Giulia Accordino, Micol Angelini, Sergio Aguilera-Albesa, Aina Aguiló-Cucurull, Esra Akyüz Özkan, Ilad Alavi Darazam, Jonathan Antonio Roblero Albisures, Juan C. Aldave, Miquel Alfonso Ramos, Taj Ali Khan, Anna Aliberti, Seyed Alireza Nadji, Gulsum Alkan, Suzan A. AlKhater, Jerome Allardet-Servent, Luis M. Allende, Rebeca Alonso-Arias, Mohammed S. Alshahrani, Laia Alsina, Zahir Amoura, Arnau Antolí, Romain Arrestier, Mélodie Aubart, Teresa Auguet, Iryna Avramenko, Gökhan Aytekin, Axelle Azot, Seiamak Bahram, Fanny Bajolle, Fausto Baldanti, Aurélie Baldolli, Maite Ballester, Benoit Barrou, Federica Barzaghi, Sabrina Basso, Gulsum Iclal Bayhan, Liliana Bezrodnik, Agurtzane Bilbao, Geraldine Blanchard-Rohner, Ignacio Blanco, Adeline Blandinières, Daniel Blázquez-Gamero, Marketa Bloomfield, Mireia Bolivar-Prados, Raphael Borie, Elisabeth Botdhlo-Nevers, Aurore Bousquet, David Boutolleau, Claire Bouvattier, Oksana Boyarchuk, Juliette Bravais, M. Luisa Briones, Marie-Eve Brunner, Raffaele Bruno, Maria Rita P. Bueno, Huda Bukhari, Jacinta Bustamante, Juan José Cáceres Agra, Ruggero Capra, Raphael Carapito, Maria Carrabba, Carlos Casasnovas, Marion Caseris, Irene Cassaniti, Martin Castelle, Francesco Castelli, Martín Castillo de Vera, Mateus V. Castro, Emilie Catherinot, Jale Bengi Celik, Alessandro Ceschi, Martin Chalumeau, Bruno Charbit, Cécile Boulanger, Père Clavé, Bonaventura Clotet, Anna Codina, Cloé Comarmond, Patrizia Comoli, Angelo G. Corsico, Taner Coşkuner, Aleksandar Cvetkovski, Cyril Cyrus, David Dalmau, François Danion, David Ross Darley, Vincent Das, Nicolas Dauby, Stéphane Dauger, Paul De Munte, Loic de Pontual, Amin Dehban, Geoffroy Delplancq, Isabelle Desguerre, Antonio Di Sabatino, Jean-Luc Diehl, Stephanie Dobbelaere, Elena Domínguez-Garrido, Clément Dubost, Olov Ekwall, Şefika Elmas Bozdemir, Marwa H. Elnagdy, Melike Emiroglu, Akifumi Endo, Emine Hafize Erdeniz, Selma Erol Aytekin, Maria Pilar Etxart Lasa, Romain Euvrard, Giovanna Fabio, Laurence Faivre, Antonin Falck, Muriel Fartoukh, Morgane Faure, Miguel Fernandez Arquero, Ricard Ferrer, Jose Ferreres, Bruno Francois, Victoria Fumadó, Kitty S.C. Fung, Francesca Fusco, Alenka Gagro, Blanca Garcia Solis, Pierre Garçon, Pascale Gaussem, Zeynep Gayretli, Juana Gil-Herrera, Laurent Gilardin, Audrey Giraud Gatineau, Mònica Girona-Alarcón, Karen Alejandra Cifuentes Godínez, Jean-Christophe Goffard, Nacho Gonzales, Luis I. Gonzalez-Granado, Rafaela González-Montelongo, Antoine Guerder, Belgin Gülhan, Victor Daniel Gumucio, Leif Gunnar Hanitsch, Jan Gunst, Marta Gut, Jérôme Hadjadj, Selda Hancerli, Tetyana Hariyan, Nevin Hatipoglu, Deniz Heppekcan, Elisa Hernandez-Brito, Po-ki Ho, María Soledad Holanda-Peña, Juan P. Horcajada, Sami Hraiech, Linda Humbert, Ivan F.N. Hung, Alejandro D. Iglesias, Antonio Íñigo-Campos, Matthieu Jamme, María Jesús Arranz, Marie-Thérèse Jimeno, Iolanda Jordan, Saliha Kanık-Yüksek, Yalcin Kara, Aydın Karahan, Adem Karbuz, Kadriye Kart Yasar, Ozgur Kasapcopur, Kenichi Kashimada, Sevgi Keles, Yasemin Kendir Demirkol, Yasutoshi Kido, Can Kizil, Ahmet Osman Kılıç, Adam Klocperk, Antonia Koutsoukou, Zbigniew J. Król, Hatem Ksouri, Paul Kuentz, Arthur M.C. Kwan, Yat Wah M. Kwan, Janette S.Y. Kwok, Jean-Christophe Lagier, David S.Y. Lam, Vicky Lampropoulou, Fleur Le Bourgeois, Yee-Sin Leo, Rafael Leon Lopez, Daniel Leung, Michael Levin, Michael Levy, Romain Lévy, Zhi Li, Daniele Lilleri, Edson Jose Adrian Bolanos Lima, Agnes Linglart, Eduardo López-Collazo, José M. Lorenzo-Salazar, Céline Louapre, Catherine Lubetzki, Kwok-Cheung Lung, Charles-Edouard Luyt, David C. Lye, Cinthia Magnone, Enrico Marchioni, Carola Marioli, Majid Marjani, Laura Marques, Jesus Marquez Pereira, Andrea Martín-Nalda, David Martínez Pueyo, Javier Martinez-Picado, Iciar Marzana, Carmen Mata-Martínez, Alexis Mathian, Larissa R.B. Matos, Gail V. Matthews, Julien Mayaux, Raquel McLaughlin-Garcia, Philippe Meersseman, Jean-Louis Mège, Armand Mekontso-Dessap, Isabelle Melki, Federica Meloni, Jean-François Meritet, Paolo Merlani, Özge Metin Akcan, Mehdi Mezidi, Isabelle Migeotte, Maude Millereux, Matthieu Million, Tristan Mirault, Clotilde Mircher, Mehdi Mirsaeidi, Yoko Mizoguchi, Bhavi P. Modi, Francesco Mojoli, Elsa Moncomble, Abián Montesdeoca Melián, Antonio Morales Martinez, Francisco Morandeira, Pierre-Emmanuel Morange, Clémence Mordacq, Guillaume Morelle, Stéphane J. Mouly, Adrián Muñoz-Barrera, Cyril Nafati, Shintaro Nagashima, Yu Nakagama, Bénédicte Neven, João Farela Neves, Yuk-Yung Ng, Hubert Nielly, Yeray Novoa Medina, Esmeralda Nuñez Cuadros, Semsi Nur Karabela, J. Gonzalo Ocejo-Vinyals, Mehdi Oualha, Amani Ouedrani, Tayfun Özçelik, Aslinur Ozkaya-Parlakay, Michele Pagani, Maria Papadaki, Philippe Parola, Tiffany Pascreau, Stéphane Paul, Estela Paz-Artal, Sigifredo Pedraza, Nancy Carolina González Pellecer, Silvia Pellegrini, Rebeca Pérez de Diego, Xosé Luis Pérez-Fernández, Aurélien Philippe, Quentin Philippot, Adrien Picod, Marc Pineton de Chambrun, Antonio Piralla, Laura Planas-Serra, Dominique Ploin, Julien Poissy, Géraldine Poncelet, Garyphallia Poulakou, Marie S. Pouletty, Persia Pourshahnazari, Jia Li Qiu-Chen, Paul Quentric, Thomas Rambaud, Didier Raoult, Violette Raoult, Anne-Sophie Rebillat, Claire Redin, Léa Resmini, Pilar Ricart, Jean-Christophe Richard, Raúl Rigo-Bonnin, Nadia Rivet, Jacques G. Rivière, Gemma Rocamora-Blanch, Mathieu P. Rodero, Carlos Rodrigo, Luis Antonio Rodriguez, Carlos Rodriguez-Gallego, Agustí Rodriguez-Palmero, Carolina Soledad Romero, Anya Rothenbuhler, Damien Roux, Nikoletta Rovina, Flore Rozenberg, Yvon Ruch, Montse Ruiz, Maria Yolanda Ruiz del Prado, Juan Carlos Ruiz-Rodriguez, Joan Sabater-Riera, Kai Saks, Maria Salagianni, Oliver Sanchez, Adrián Sánchez-Montalvá, Silvia Sánchez-Ramón, Laire Schidlowski, Agatha Schluter, Julien Schmidt, Matthieu Schmidt, Catharina Schuetz, Cyril E. Schweitzer, Francesco Scolari, Luis Seijo, Analia Gisela Seminario, Piseth Seng, Sevtap Senoglu, Mikko Seppänen, Alex Serra Llovich, Virginie Siguret, Eleni Siouti, David M. Smadja, Nikaia Smith, Ali Sobh, Xavier Solanich, Jordi Solé-Violán, Catherine Soler, Betül Sözeri, Giulia Maria Stella, Yuriy Stepanovskiy, Annabelle Stoclin, Fabio Taccone, Jean-Luc Taupin, Simon J. Tavernier, Loreto Vidaur Tello, Benjamin Terrier, Guillaume Thiery, Karolina Thorn, Caroline Thumerelle, Imran Tipu, Martin Tolstrup, Gabriele Tomasoni, Julie Toubiana, Josep Trenado Alvarez, Vasiliki Triantafyllia, Jesús Troya, Owen T.Y. Tsang, Liina Tserel, Eugene Y.K. Tso, Alessandra Tucci, Şadiye Kübra Tüter Öz, Matilde Valeria Ursini, Takanori Utsumi, Pierre Vabres, Juan Valencia-Ramos, Ana Maria Van Den Rym, Isabelle Vandernoot, Valentina Velez-Santamaria, Silvia Patricia Zuniga Veliz, Mateus C. Vidigal, Sébastien Viel, Cédric Villain, Marie E. Vilaire-Meunier, Judit Villar-García, Audrey Vincent, Dimitri Van der Linden, Alla Volokha, Fanny Vuotto, Els Wauters, Alan K.L. Wu, Tak-Chiu Wu, Aysun Yahşi, Osman Yesilbas, Mehmet Yildiz, Barnaby E. Young, Ufuk Yükselmiş, Marco Zecca, Valentina Zuccaro, Jens Van Praet, Bart N. Lambrecht, Eva Van Braeckel, Cédric Bosteels, Levi Hoste, Eric Hoste, Fré Bauters, Jozefien De Clercq, Catherine Heijmans, Hans Slabbynck, Leslie Naesens, Benoit Florkin, Mary-Anne Young, Amanda Willis, Paloma Lapuente-Suanzes, Ana de Andrés-Martín, Matilda Berkell, Valerio Carelli, Alessia Fiorentino, Surbhi Malhotra, Alessandro Mattiaccio, Tommaso Pippucci, Marco Seri, Evelina Tacconelli, Michiel van Agtmael, Anne Geke Algera, Brent Appelman, Frank van Baarle, Diane Bax, Martijn Beudel, Harm Jan Bogaard, Marije Bomers, Peter Bonta, Lieuwe Bos, Michela Botta, Justin de Brabander, Godelieve de Bree, Sanne de Bruin, David T.P. Buis, Marianna Bugiani, Esther Bulle, Osoul Chouchane, Alex Cloherty, Mirjam Dijkstra, Dave A. Dongelmans, Romein W.G. Dujardin, Paul Elbers, Lucas Fleuren, Suzanne Geerlings, Theo Geijtenbeek, Armand Girbes, Bram Goorhuis, Martin P. Grobusch, Florianne Hafkamp, Laura Hagens, Jorg Hamann, Vanessa Harris, Robert Hemke, Sabine M. Hermans, Leo Heunks, Markus Hollmann, Janneke Horn, Joppe W. Hovius, Menno D. de Jong, Rutger Koning, Endry H.T. Lim, Niels van Mourik, Jeaninne Nellen, Esther J. Nossent, Frederique Paulus, Edgar Peters, Dan A.I. Pina-Fuentes, Tom van der Poll, Bennedikt Preckel, Jan M. Prins, Jorinde Raasveld, Tom Reijnders, Maurits C.F. J. de Rotte, Michiel Schinkel, Marcus J. Schultz, Femke A.P. Schrauwen, Alex Schuurmans, Jaap Schuurmans, Kim Sigaloff, Marleen A. Slim, Patrick Smeele, Marry Smit, Cornelis S. Stijnis, Willemke Stilma, Charlotte Teunissen, Patrick Thoral, Anissa M. Tsonas, Pieter R. Tuinman, Marc van der Valk, Denise P. Veelo, Carolien Volleman, Heder de Vries, Lonneke A. Vught, Michèle van Vugt, Dorien Wouters, A.H. Zwinderman, Matthijs C. Brouwer, W. Joost Wiersinga, Alexander P.J. Vlaar, Miranda F. Tompkins, Camille Alba, Daniel N. Hupalo, John Rosenberger, Gauthaman Sukumar, Matthew D. Wilkerson, Xijun Zhang, Justin Lack, Andrew J. Oler, Kerry Dobbs, Ottavia M. Delmonte, Jeffrey J. Danielson, Andrea Biondi, Laura Rachele Bettini, Mariella D’Angiò, Ilaria Beretta, Luisa Imberti, Alessandra Sottini, Virginia Quaresima, Eugenia Quiros-Roldan, Camillo Rossi, Riccardo Castagnoli, Daniela Montagna, Amelia Licari, and Gian Luigi Marseglia

Subjects
HLA, association, asymptomatic infection, COVID-19, population stratification, Genetics, QH426-470
Abstract

Summary: Human genetic studies of critical COVID-19 pneumonia have revealed the essential role of type I interferon-dependent innate immunity to SARS-CoV-2 infection. Conversely, an association between the HLA-B∗15:01 allele and asymptomatic SARS-CoV-2 infection in unvaccinated individuals was recently reported, suggesting a contribution of pre-existing T cell-dependent adaptive immunity. We report a lack of association of classical HLA alleles, including HLA-B∗15:01, with pre-omicron asymptomatic SARS-CoV-2 infection in unvaccinated participants in a prospective population-based study in the United States (191 asymptomatic vs. 945 symptomatic COVID-19 cases). Moreover, we found no such association in the international COVID Human Genetic Effort cohort (206 asymptomatic vs. 574 mild or moderate COVID-19 cases and 1,625 severe or critical COVID-19 cases). Finally, in the Human Challenge Characterisation study, the three HLA-B∗15:01 individuals infected with SARS-CoV-2 developed symptoms. As with other acute primary infections studied, no classical HLA alleles favoring an asymptomatic course of SARS-CoV-2 infection were identified.

Published
2024
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2. RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation

Author

Neshatul Haque, Tomoki Kawai, Brian D. Ratnasinghe, Jessica B. Wagenknecht, Raul Urrutia, Luigi D. Notarangelo, and Michael T. Zimmermann

Subjects
Molecular modeling, Molecular structure, Genetics, Science
Abstract

Summary: Interpreting genetic changes observed in individual patients is a critical challenge. The array of immune deficiency syndromes is typically caused by genetic variation unique to individuals. Therefore, new approaches are needed to interpret functional variation and accelerate genomics interpretation. We constructed the first full-length structural model of human RAG recombinase across four functional states of the recombination process. We functionally tested 182 clinically observed RAG missense mutations. These experiments revealed dysfunction due to recombinase dysfunction and altered chromatin interactions. Structural modeling identified mechanical and energetic roles for each mutation. We built regression models for RAG1 (R2 = 0.91) and RAG2 (R2 = 0.97) to predict RAG activity changes. We applied our model to 711 additional RAG variants observed in population studies and identified a subset that may impair RAG function. Thus, we demonstrated a fundamental advance in the mechanistic interpretation of human genetic variations spanning from rare and undiagnosed diseases to population health.

Published
2023
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3. Generation of human induced pluripotent stem cell lines from patients with selective IgA deficiency

Author

Jonathan Arias-Fuenzalida, Jingwei Yu, Likun Du, Joaquin Custodio, Luigi D. Notarangelo, Lennart Hammarström, and Qiang Pan-Hammarström

Subjects
Biology (General), QH301-705.5
Abstract

Selective immunoglobulin-A deficiency (IgAD) is the most common primary immunodeficiency (PID) in the Western world and results in higher susceptibility to infections, autoimmune disorders and malignancies. We generated human induced pluripotent stem cell lines from two patients with selective IgAD, PHAi001 and PHAi002. Patient samples were reprogrammed using non-integrative based methods. Pluripotency of the PHAi001 and PHAi002 cell lines was confirmed by their expression of stem cell markers and capacity to differentiate into cells of the three germ layers. The PHAi001 and PHAi002 lines are a unique resource for experimental modeling of selective IgAD and associated disorders.

Published
2019
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5. Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency

Author

Annaïse J. Jauch, Olivier Bignucolo, Sayuri Seki, Marie Ghraichy, Ottavia M. Delmonte, Valentin von Niederhäusern, Rebecca Higgins, Adhideb Ghosh, Masako Nishizawa, Mariko Tanaka, Adrian Baldrich, Julius Köppen, Julia R. Hirsiger, Robin Hupfer, Stephan Ehl, Anne Rensing-Ehl, Helmut Hopfer, Spasenija Savic Prince, Stephen R. Daley, Florian A. Marquardsen, Benedikt J. Meyer, Michael Tamm, Thomas D. Daikeler, Tamara Diesch, Thomas Kühne, Arthur Helbling, Caroline Berkemeier, Ingmar Heijnen, Alexander A. Navarini, Johannes Trück, Jean-Pierre de Villartay, Annette Oxenius, Christoph T. Berger, Christoph Hess, Luigi D. Notarangelo, Hiroyuki Yamamoto, and Mike Recher

Subjects
Immunology, Immunology and Allergy, 610 Medicine & health
Abstract

BACKGROUND Biallelic mutations in LIG4 encoding DNA-ligase 4 cause a rare immunodeficiency syndrome manifesting as infant-onset life-threatening and/or opportunistic infections, skeletal malformations, radiosensitivity and neoplasia. LIG4 is pivotal during DNA repair and during V(D)J recombination as it performs the final DNA-break sealing step. OBJECTIVE We explored whether monoallelic LIG4 missense mutations may underlie immunodeficiency and autoimmunity with autosomal dominant inheritance. METHODS Extensive flow-cytometric immune-phenotyping was performed. Rare variants of immune system genes were analyzed by whole exome sequencing. DNA repair functionality and T cell-intrinsic DNA damage tolerance was tested with an ensemble of in vitro and in silico tools. Antigen-receptor diversity and autoimmune features were characterized by high-throughput sequencing and autoantibody arrays. Reconstitution of wild-type vs. mutant LIG4 were performed in LIG4 knock-out Jurkat T cells and DNA damage tolerance was subsequently assessed. RESULTS A novel heterozygous LIG4 loss-of-function mutation (p.R580Q), associated with a dominantly inherited familial immune-dysregulation consisting of autoimmune cytopenias, and in the index patient with lymphoproliferation, agammaglobulinemia and adaptive immune cell infiltration into nonlymphoid organs. Immunophenotyping revealed reduced naïve CD4+ T cells and low TCR-Vα7.2+ T cells, while T/B-cell receptor repertoires showed only mild alterations. Cohort screening identified two other non-related patients with the monoallelic LIG4 mutation p.A842D recapitulating clinical and immune-phenotypic dysregulations observed in the index family and displaying T cell-intrinsic DNA damage intolerance. Reconstitution experiments and molecular dynamics simulations categorize both missense mutations as loss-of-function and haploinsufficient. CONCLUSION We provide evidence that certain monoallelic LIG4 mutations may cause human immune dysregulation via haploinsufficiency.

Published
2023

7. Severe combined immune deficiency

Author

Anna Villa, Luigi D. Notarangelo, Fabio Candotti, Despina Moshous, and Jean-Pierre de Villartay

Subjects
Newborn screening, Bone marrow transplant, biology, business.industry, Hematopoietic stem cell, Human leukocyte antigen, Haematopoiesis, medicine.anatomical_structure, Immune system, Immunology, medicine, biology.protein, Antibody, business, Thymic Dysplasia
Abstract

Severe combined immune deficiency, also known by its acronym, SCID, was once inevitably fatal in infancy. In the 1970s, our understanding was limited to a description of thymic dysplasia and lymphopenia with no immunoglobulins. Although the first bone marrow transplant was done in 1958, there was little understanding of the variables impacting success and the next ten years saw advances in HLA typing and general understanding of the hematopoietic system, leading to the first transplant for SCID in 1968. Today, hematopoietic stem cell transplants are successful for SCID >90% of the time when the patient is identified through newborn screening. In parallel with treatment advances have been a wealth of diagnostic advances. This chapter will cover the individual types of SCID.

Published
2020

8. Contributors

Author

Michael S. Abers, Daria V. Babushok, Mark Ballow, Bertrand Boisson, Vincent Robert Bonagura, Francisco A. Bonilla, João Bosco de Oliveira Filho, Kaan Boztug, Lori Broderick, Manish J. Butte, Fabio Candotti, Jean-Laurent Casanova, Shanmuganathan Chandrakasan, Antonio Condino-Neto, Yanick J. Crow, Charlotte Cunningham-Rundles, Virgil A.S.H. Dalm, Adriana A. de Jesus, Emma de Maio, Geneviève de Saint Basile, Esther de Vries, Inderjeet Dokal, Christopher J.A. Duncan, A. Durandy, Stephan Ehl, Amos Etzioni, Polly J. Ferguson, Thomas A. Fleisher, Lisa R. Forbes-Satter, Michael M. Frank, Alexandra F. Freeman, Marie-Louise Frémond, John W. Frew, Mathieu Fusaro, Eleonora Gambineri, Rebecca D. Ganetzky, Andrew R. Gennery, Raphaela Goldbach-Mansky, Amy C. Goldstein, John M. Graham, Stephanie E. Gupton, Elie Haddad, Sophie Hambleton, Eric P. Hanson, Jennifer Heimall, Miep Helfrich, Sarah E. Henrickson, Steven M. Holland, Amy P. Hsu, Soma Jyonouchi, Sara Kashef, Judith Kelsen, Maya Khalil, Christoph Klein, Lisa Kobrynski, Donald B. Kohn, S. Kracker, James G. Krueger, Pascal M. Lavoie, Heather K. Lehman, Jennifer W. Leiding, Michael J. Lenardo, Ofer Levy, Allison Pecha Lim, Michail S. Lionakis, Andrea Lisco, Vassilios Lougaris, Saul O. Lugo Reyes, M. Louise Markert, Rebecca A. Marsh, Elizabeth A. McCarthy, Isabelle Meyts, Cinzia Milito, Joshua D. Milner, Jeffrey E. Ming, Despina Moshous, Ludmila Müller, Kristina Navrazhina, Kim E. Nichols, Luigi D. Notarangelo, Eric Oksenhendler, Jordan S. Orange, Roberto Paganelli, Graham Pawelec, Tancredi Massimo Pentimalli, Elena E. Perez, Capucine Picard, Alessandro Plebani, Oscar Porras, Amanda C. Przespolewski, Anne Puel, Federica Pulvirenti, Isabella Quinti, Nima Rezaei, Ger T. Rijkers, David Walter Rosenthal, Sergio D. Rosenzweig, Brahm H. Segal, Mikko R.J. Seppänen, Irini Sereti, Anna Shcherbina, Cristina Sobacchi, Jacqueline D. Squire, Polina Stepensky, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Gulbu Uzel, Mirjam van der Burg, Anna Villa, Jean-Pierre de Villartay, Klaus Warnatz, Richard L. Wasserman, Corry M.R. Weemaes, Joyce E. Yu, Shen-Ying Zhang, and John B. Ziegler

Published
2020

9. List of Contributors

Author

Roshini Sarah Abraham, Cristina Albanesi, Ilias Alevizos, Juan Anguita, Brendan Antiochos, Cynthia Aranow, John P. Atkinson, Howard A. Austin, Subash Babu, Mark C. Ballow, James E. Balow, John W. Belmont, Claudia Berek, Timothy Beukelman, Tapan Bhavsar, J. Andrew Bird, Sarah E. Blutt, Mark Boguniewicz, Rafael Bonamichi-Santos, Bertrand Boisson, Elena Borzova, Prosper N. Boyaka, Joshua Boyce, Sarah K. Browne, Wesley Burks, Jacinta Bustamante, Virginia L. Calder, Matthew Campbell, Adela Rambi G. Cardones, Jean-Laurent Casanova, Mariana Castells, Lisa A. Cavacini, Edwin S.L. Chan, David D. Chaplin, W. Winn Chatham, Edward S. Chen, Javier Chinen, Lisa Christopher-Stine, Michael Ciancanelli, Andrew P. Cope, David B. Corry, Filippo Crea, Randy Q. Cron, Jennifer M. Cuellar-Rodriguez, Marinos C. Dalakas, Sara M. Dann, Betty Diamond, Terry W. Du, Stéphanie Dupuis-Boisson, Todd N. Eagar, Craig A. Elmets, Doruk Erkan, Laura Fanning, Erol Fikrig, Davide Flego, Thomas A. Fleisher, Luz Fonacier, Andrew P. Fontenot, Alexandra F. Freeman, Anthony J. Frew, Kohtaro Fujihashi, Massimo Gadina, Moshe E. Gatt, M. Eric Gershwin, Susan L. Gillespie, Jörg J. Goronzy, Sangeeta Goswami, Clive E.H. Grattan, Neil S. Greenspan, Sarthak Gupta, Claire E. Gustafson, Russell P. Hall, Robert G. Hamilton, Laurie E. Harrington, Leonard C. Harrison, Sarfaraz A. Hasni, Arthur Helbling, Joanna Hester, Steven M. Holland, Dennis Hourcade, Nicholas D. Huntington, Tracy Hwangpo, John B. Imboden, Fadi Issa, Shai Izraeli, Elaine S. Jaffe, Sirpa Jalkanen, Stacie Jones, Emmanuelle Jouanguy, Sarah Kabbani, Stefan H.E. Kaufmann, Farrah Kheradmand, Donald B. Kohn, Robert Korngold, Anna Kovalszki, Douglas B. Kuhns, Hrishikesh Kulkarni, Caroline Y. Kuo, Arash Lahouti, C. Ola Landgren, Arian Laurence, Joyce S. Lee, Catherine Lemière, Donald Y.M. Leung, Arnold I. Levinson, Ofer Levy, Dorothy E. Lewis, Phoebe Lin, Andreas Linkermann, Giovanna Liuzzo, Michael D. Lockshin, Allison K. Lord, Jay N. Lozier, Amber Luong, Raashid Luqmani, Meggan Mackay, Jonathan S. Maltzman, Peter J. Mannon, Michael P. Manns, James G. Martin, Craig L. Maynard, Samual McCash, Douglas R. McDonald, Peter C. Melby, Stephen D. Miller, Anna L. Mitchell, Amirah Mohd-Zaki, Carolyn Mold, David R. Moller, Dimitrios S. Monos, Scott N. Mueller, Catharina M. Mulders-Manders, Mark J. Mulligan, Ulrich R. Müller, Pashna N. Munshi, Kazunori Murata, Philip M. Murphy, Nicolás Navasa, Pierre Noel, Luigi D. Notarangelo, Robert L. Nussbaum, Thomas B. Nutman, Stephen L. Nutt, João B. Oliveira, Thomas L. Ortel, John J. O'Shea, Sung-Yun Pai, Lavannya Pandit, Mary E. Paul, Simon H.S. Pearce, Daniela Pedicino, Erik J. Peterson, Capucine Picard, Stefania Pittaluga, Debra Long Priel, Jennifer Puck, Anne Puel, Andreas Radbruch, Stephen T. Reece, John D. Reveille, Robert R. Rich, Chaim M. Roifman, Antony Rosen, James T. Rosenbaum, Sergio D. Rosenzweig, Barry T. Rouse, Scott D. Rowley, Shimon Sakaguchi, Marko Salmi, Andrea J. Sant, Sarah W. Satola, Valerie Saw, Marcos C. Schechter, Harry W. Schroeder, Benjamin M. Segal, Carlo Selmi, Sushma Shankar, Anu Sharma, Padmanee Sharma, William T. Shearer, Richard M. Siegel, Anna Simon, Gideon P. Smith, David S. Stephens, Robin Stephens, Alex Straumann, Leyla Y. Teos, Laura Timares, Wulf Tonnus, Raul M. Torres, Gülbü Uzel, Jeroen C.H. van der Hilst, Jos W.M. van der Meer, John Varga, Jatin M. Vyas, Meryl Waldman, Peter Weiser, Peter F. Weller, Cornelia M. Weyand, Fredrick M. Wigley, Robert J. Winchester, James B. Wing, Kathryn J. Wood, Xiaobo Wu, Hui Xu, Cassian Yee, and Shen-Ying Zhang

Published
2019

10. Congenital Disorders of Lymphocyte Function

Author

Luigi D. Notarangelo and Sung-Yun Pai

Subjects
0301 basic medicine, Hemophagocytic lymphohistiocytosis, business.industry, Wiskott–Aldrich syndrome, Common variable immunodeficiency, Lymphocyte, X-linked lymphoproliferative disease, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Autoimmune lymphoproliferative syndrome, Immunology, medicine, business, Function (biology)
Published
2018

11. Contributors

Author

Omar Abdel-Wahab, Janet L. Abrahm, Sharon Adams, Adeboye H. Adewoye, Carl Allen, Richard F. Ambinder, Claudio Anasetti, John Anastasi, Julia A. Anderson, Joseph H. Antin, Aśok C. Antony, David J. Araten, Philippe Armand, Gillian Armstrong, Scott A. Armstrong, Donald M. Arnold, Andrew S. Artz, Farrukh T. Awan, Trevor P. Baglin, Don M. Benson, Edward J. Benz, Nancy Berliner, Govind Bhagat, Nina Bhardwaj, Ravi Bhatia, Smita Bhatia, Mihir D. Bhatt, Vijaya Raj Bhatt, Menachem Bitan, Craig D. Blinderman, Catherine M. Bollard, Benjamin S. Braun, Malcolm K. Brenner, Gary M. Brittenham, Robert A. Brodsky, Myles Brown, Hal E. Broxmeyer, Kathleen Brummel-Ziedins, Andrew M. Brunner, Francis K. Buadi, Birgit Burkhardt, Melissa Burns, John C. Byrd, Paolo F. Caimi, Michael A. Caligiuri, Michelle Canavan, Alan B. Cantor, Manuel Carcao, Michael C. Carroll, Shannon A. Carty, Jorge J. Castillo, Anthony K.C. Chan, John Chapin, April Chiu, John P. Chute, David B. Clark, Thomas D. Coates, Christopher R. Cogle, Nathan T. Connell, Elizabeth Cooke, Sarah Cooley, Paolo Corradini, Mark A. Creager, Richard J. Creger, Caroline Cromwell, Mark A. Crowther, Melissa M. Cushing, Corey Cutler, Chi V. Dang, Nika N. Danial, Sandeep S. Dave, James A. DeCaprio, Mary C. Dinauer, Shira Dinner, Reyhan Diz-Küçükkaya, Roger Y. Dodd, Michele L. Donato, Kenneth Dorshkind, Gianpietro Dotti, Yigal Dror, Kieron Dunleavy, Christopher C. Dvorak, Benjamin L. Ebert, Michael J. Eck, John W. Eikelboom, Narendranath Epperla, William B. Ershler, William E. Evans, Stefan Faderl, James L.M. Ferrara, Alexandra Hult Filipovich, Martin Fischer, James C. Fredenburgh, Kenneth D. Friedman, Ephraim Fuchs, Stephen J. Fuller, David Gailani, Jacques Galipeau, Patrick G. Gallagher, Karthik A. Ganapathi, Lawrence B. Gardner, Adrian P. Gee, Stanton L. Gerson, Morie A. Gertz, Patricia J. Giardina, Christopher J. Gibson, Karin Golan, Todd R. Golub, Matthew J. Gonzales, Jason Gotlib, Stephen Gottschalk, Marianne A. Grant, Timothy A. Graubert, Xylina T. Gregg, John G. Gribben, Dawn M. Gross, Tanja A. Gruber, Joan Guitart, Sandeep Gurbuxani, Shiri Gur-Cohen, Alejandro Gutierrez, Mehdi Hamadani, Parameswaran N. Hari, John H. Hartwig, Suzanne R. Hayman, Catherine P.M. Hayward, Robert P. Hebbel, Helen E. Heslop, Christopher Hillis, Christopher D. Hillyer, Karin Ho, David M. Hockenbery, Ronald Hoffman, Kerstin E. Hogg, Shernan G. Holtan, Hans-Peter Horny, Yen-Michael S. Hsu, Zachary R. Hunter, James A. Huntington, Camelia Iancu-Rubin, Ali Iqbal, David E. Isenman, Sara J. Israels, Joseph E. Italiano, Elaine S. Jaffe, Iqbal H. Jaffer, Sundar Jagannath, Ulrich Jäger, Nitin Jain, Paula James, Sima Jeha, Michael B. Jordan, Cassandra D. Josephson, Moonjung Jung, Leo Kager, Taku Kambayashi, Jennifer A. Kanakry, Hagop M. Kantarjian, Jason Kaplan, Matthew S. Karafin, Aly Karsan, Randal J. Kaufman, Richard M. Kaufman, Frank G. Keller, Kara M. Kelly, Craig M. Kessler, Nigel S. Key, Alla Keyzner, Alexander G. Khandoga, Arati Khanna-Gupta, Eman Khatib-Massalha, Harvey G. Klein, Birgit Knoechel, Orit Kollet, Barbara A. Konkle, Dimitrios P. Kontoyiannis, John Koreth, Gary A. Koretzky, Dipak Kotecha, Marina Kremyanskaya, Anju Kumari, Timothy M. Kuzel, Ralf Küppers, Martha Q. Lacy, Elana Ladas, Wendy Landier, Kfir Lapid, Tsvee Lapidot, Peter J. Larson, Marcel Levi, Russell E. Lewis, Howard A. Liebman, David Lillicrap, Wendy Lim, Judith C. Lin, Robert Lindblad, Gregory Y.H. Lip, Jane A. Little, Jens G. Lohr, José A. López, Francis W. Luscinskas, Jaroslaw P. Maciejewski, Navneet S. Majhail, Olivier Manches, Robert J. Mandle, Kenneth G. Mann, Catherine S. Manno, Andrea N. Marcogliese, Guglielmo Mariani, Francesco M. Marincola, John Mascarenhas, Steffen Massberg, Rodger P. McEver, Emer McGrath, Matthew S. McKinney, Rohtesh S. Mehta, William C. Mentzer, Giampaolo Merlini, Reid Merryman, Marc Michel, Anna Rita Migliaccio, Jeffrey S. Miller, Martha P. Mims, Traci Heath Mondoro, Paul Moorehead, Luciana R. Muniz, Nikhil C. Munshi, Vesna Najfeld, Lalitha Nayak, Ishac Nazy, Anne T. Neff, Paul M. Ness, Luigi D. Notarangelo, Sarah H. O'Brien, Owen A. O'Connor, Martin O'Donnell, Amanda Olson, Stuart H. Orkin, Menaka Pai, Sung-Yun Pai, Michael Paidas, Sandhya R. Panch, Reena L. Pande, Thalia Papayannopoulou, Rahul Parikh, Effie W. Petersdorf, Shane E. Peterson, Stefania Pittaluga, Doris M. Ponce, Laura Popolo, Josef T. Prchal, Ching-Hon Pui, Pere Puigserver, Janusz Rak, Carlos A. Ramos, Jacob H. Rand, Margaret L. Rand, Dinesh S. Rao, Farhad Ravandi, David J. Rawlings, Pavan Reddy, Mark T. Reding, Andreas Reiter, Lawrence Rice, Matthew J. Riese, Arthur Kim Ritchey, David J. Roberts, Elizabeth Roman, Cliona M. Rooney, Steven T. Rosen, David S. Rosenthal, Marlies P. Rossmann, Antal Rot, Scott D. Rowley, Jeffrey E. Rubnitz, Natalia Rydz, Mohamed E. Salama, Steven Sauk, Yogen Saunthararajah, William Savage, David Scadden, Kristen G. Schaefer, Fred Schiffman, Robert Schneidewend, Stanley L. Schrier, Edward H. Schuchman, Bridget Fowler Scullion, Kathy J. Selvaggi, Keitaro Senoo, Montaser Shaheen, Beth H. Shaz, Samuel A. Shelburne, Elizabeth J. Shpall, Susan B. Shurin, Deborah Siegal, Leslie E. Silberstein, Lev Silberstein, Roy L. Silverstein, Steven R. Sloan, Franklin O. Smith, James W. Smith, Katy Smith, David P. Steensma, Martin H. Steinberg, Wendy Stock, Jill R. Storry, Susan L. Stramer, Ronald G. Strauss, David F. Stroncek, Justin Taylor, Swapna Thota, Steven P. Treon, Anil Tulpule, Roberto Ferro Valdes, Peter Valent, Suresh Vedantham, Gregory M. Vercellotti, Michael R. Verneris, Elliott P. Vichinsky, Ulrich H. von Andrian, Julie M. Vose, Andrew J. Wagner, Ena Wang, Jia-huai Wang, Theodore E. Warkentin, Melissa P. Wasserstein, Ann Webster, Daniel J. Weisdorf, Jeffrey I. Weitz, Connie M. Westhoff, Allison P. Wheeler, Page Widick, James S. Wiley, Basem M. William, David A. Williams, Wyndham H. Wilson, Joanne Wolfe, Lucia R. Wolgast, Deborah Wood, Jennifer Wu, Joachim Yahalom, Donald L. Yee, Anas Younes, Neal S. Young, and Michelle P. Zeller

Published
2018

12. List of Contributors

Author

Fredrick M. Abrahamian, Michael J. Aldape, Edelweiss Aldasoro, Upton D. Allen, Hythem Al-Sum, Milan J. Anadkat, Katherine Anders, Emmanouil Angelakis, Brian John Angus, Anastasia Antoniadou, Fabio Arena, Joop E. Arends, Jose R. Arribas, Andrew W. Artenstein, John C. Atherton, John N. Aucott, Tar-Ching Aw, Hilary M. Babcock, Robin Bailey, Thomas C. Bailey, Adam Z. Banks, David J. Barillo, Ernie-Paul Barrette, Martijn P. Bauer, Roger Bayston, C. Ben Beard, Justin Beardsley, Nick J. Beeching, Rodolfo E. Bégué, Guido Beldi, Constance A. Benson, Elie F. Berbari, Jean-Michel Berenger, Christoph Berger, Jose I. Bernardino, Jacques Bille, Alexander C. Billioux, Ari Bitnun, Iain Blair, Stéphane Blanche, Thomas P. Bleck, Chantal P. Bleeker-Rovers, Gijs Bleijenberg, Karen C. Bloch, Johannes Blum, Emily A. Blumberg, Robert A. Bonomo, Marc J.M. Bonten, Rafik Bourayou, Emilio Bouza, K. Ashley Brandt, Florence Bretelle, Sylvain Brisse, Warwick J. Britton, Itzhak Brook, Matthijs C. Brouwer, Sarah K. Browne, Amy E. Bryant, Silja Bühler, Eileen M. Bulger, R. Mark L. Buller, Leah A. Burke, Christian Burri, Marcus W. Butler, Thierry Calandra, David P. Calfee, Antonia Calvo-Cano, D. William Cameron, Joseph A. Carcillo, Gail Carson, Stephen T. Chambers, Remi N. Charrel, Vinh Chau Van Nguyen, Stéphane Chevaliez, Tom M. Chiller, Eirini Christaki, Kevin K. Chung, David B. Clifford, Nathan Clumeck, Jonathan Cohen, John Collinge, Christopher P. Conlon, Curdin Conrad, Fiona J. Cooke, Jennifer Rittenhouse Cope, G. Ralph Corey, John H. Cross, Burke A. Cunha, Cheston B. Cunha, Benoit D'Journo, George L. Daikos, Johannes M.A. Daniels, Robert N. Davidson, Nicholas P.J. Day, Kevin M. De Cock, Thushan I. de Silva, Henry J.C. de Vries, Stéphane de Wit, Julie Delaloye, David W. Denning, David T. Dennis, Shireesha Dhanireddy, Elodi J. Dielubanza, David J. Diemert, Mehmet Doganay, Tom Doherty, Christiane Dolecek, Arjen M. Dondorp, Abby Douglas, Michel Drancourt, Grégory Dubourg, Michael N. Dudley, Guillaume Durand, Benjamin J. Eckhardt, Androulla Efstratiou, Miquel B. Ekkelenkamp, Ambika Eranki, Hakan Erdem, Gerome V. Escota, Heather L. Evans, Alice Chijioke Eziefula, Florence Fenollar, Alan Fenwick, Joshua Fierer, Roger G. Finch, James M. Fleckenstein, Christina Forstner, Federico Foschi, Pierre-Edouard Fournier, Martyn A. French, Kenneth L. Gage, Lynne S. Garcia, Joaquim Gascon, Arturo S. Gastañaduy, Philippe Gautret, William M. Geisler, Khalil G. Ghanem, Tommaso Giani, Maddalena Giannella, Bruce L. Gilliam, Michel Gilliet, Carol A. Glaser, Youri Glupczynski, John W. Gnann, Ellie J.C. Goldstein, Bruno Gottstein, Frederique Gouriet, Patti E. Gravitt, Michael D. Green, Stephen T. Green, Andreas H. Groll, Roy M. Gulick, Arjun Gupta, Gilbert Habib, Stephan Harbarth, Marianne Harris, Frederick G. Hayden, David J. Hetem, Philip C. Hill, Bernard Hirschel, Aimee C. Hodowanec, Louis Hoffart, Christian Hoffmann, Steven M. Holland, Peter W. Horby, David J. Horne, Sami Hraiech, Mark W. Hull, Angela Huttner, Richard J.M. Ingram, Jasmin Islam, Michael G. Ison, Scott H. James, Claire Jenkins, Stephen G. Jenkins, Jørgen Skov Jensen, Christine Johnston, Theodore B. Jones, Stephen J. Jordan, Kathleen G. Julian, Yasuyuki Kato, Carol A. Kauffman, Keith S. Kaye, Michael P. Keane, James Keeney, Paul Kelly, Stephen J. Kent, Winfried V. Kern, Yoav Keynan, Andrea A. Kim, Isabelle Koné-Paut, Chris Kosmidis, Aloys C.M. Kroes, Frank P. Kroon, Thomas G. Ksiazek, F. Matthew Kuhlmann, Ed J. Kuijper, Jennie H. Kwon, George B. Kyei, Karine Lacombe, Philippe Lagacé-Wiens, Jean-Christophe Lagier, Theresa Lamagni, Luce Landraud, Fanny Lanternier, Kerry L. LaPlante, Stephen D. Lawn, Steven J. Lawrence, Hakan Leblebicioglu, Nelson Lee, James E. Leggett, Philippe Lehours, Pierre-Yves Levy, Rainer G. Leyh, Rebecca A. Lillis, Direk Limmathurotsakul, Jennifer Lin, H.D. Alan Lindquist, Benjamin A. Lipsky, Christina Liscynesky, David Looney, Olivier Lortholary, Franklin D. Lowy, Benjamin J. Luft, Philip A. Mackowiak, Paul A. MacPherson, Valérie Maghraoui-Slim, Patrick W. Mallon, Julie E. Mangino, Oriol Manuel, Oscar Marchetti, Kristen M. Marks, Kieren A. Marr, Jeanne Marrazzo, Jonas Marschall, David H. Martin, Frédéric Matonti, Richard S. Matulewicz, Kenneth H. Mayer, Russell J. McCulloh, Rose McGready, Rennatus Mdodo, Simon Mead, Francis Mégraud, Graeme Meintjes, Sarah C. Metcalf, Marian G. Michaels, Giovanni Battista Migliori, Michael A. Miles, Alastair Miller, Matthew J. Mimiaga, Marie-Paule Mingeot-Leclercq, Elizabeth Ann Misch, Makedonka Mitreva, Julio S.G. Montaner, Caroline B. Moore, Patricia Muñoz, Jose Muñoz, Clinton K. Murray, Didier Musso, Mable Mutengo, Misha M. Mutizwa, Kurt G. Naber, Pavithra Natarajan, Santiago Neme, Paul N. Newton, Ronald A. Nichols, Lindsay E. Nicolle, François Nosten, Luigi D. Notarangelo, Thomas B. Nutman, Paul Nyirjesy, P. Ronan O'Connell, Steven M. Opal, L. Peter Ormerod, Douglas R. Osmon, Marie Boulze Pankert, Giuseppe Pantaleo, Laurent Papazian, Diane M. Parente, Philippe Parola, Shadi Parsaei, Manuel A. Pascual, Rupa Patel, Eleni Patrozou, Jean-Michel Pawlotsky, Sharon J. Peacock, Jean-Claude Pechère, Ivan Pelegrin, Barry S. Peters, Edgar J.G. Peters, Jeannine M. Petersen, Lyle R. Petersen, Vidmantas Petraitis, Luu-Ly Pham, Albert Picado, Adrian Pilatz, Benoit Pilmis, María-Jesús Pinazo, Mathias W. Pletz, Jason M. Pogue, Evelyn L. Polgreen, Philip M. Polgreen, Klara M. Posfay-Barbe, William G. Powderly, Rachel Presti, Guy Prod'hom, Mirja Puolakkainen, Thomas C. Quinn, Didier Raoult, Raymund R. Razonable, Robert C. Read, Robert R. Redfield, Rob J. Rentenaar, Steven J. Reynolds, Camillo Ribi, Malcolm D. Richardson, Michele L. Ritter, Antoine Roch, Jürgen Kurt Rockstroh, Amanda Rojek, José R. Romero, Suzan H.M. Rooijakkers, Daniel Rosenbluth, Sergio D. Rosenzweig, Gian Maria Rossolini, Ethan Rubinstein, Greg Ryan, Steven A. Safren, Vikrant V. Sahasrabuddhe, Pekka A.I. Saikku, Mohammad M. Sajadi, Michelle R. Salvaggio, Carlos A.Q. Santos, Michael J. Satlin, Anthony J. Schaeffer, Christoph Schimmer, Robert T. Schooley, Richard F. Schumacher, Beverly E. Sha, Daniel S. Shapiro, Gerard Sheehan, David M. Shlaes, Shmuel Shoham, Cameron P. Simmons, Dennis W. Simon, Matthew S. Simon, Kari A. Simonsen, Mary P.E. Slack, Tyrel T. Smith, Jack D. Sobel, Maria Souli, Shruti Sridhar, James M. Steckelberg, Dennis L. Stevens, Heather Strah, A. Willem Sturm, Somnuek Sungkanuparph, Sarah J. Tabrizi, Evelina Tacconelli, Chen Sabrina Tan, Randy A. Taplitz, Guillemette Thomas, Lora D. Thomas, Franck Thuny, Guy Thwaites, Frederic Tissot, Tone Tønjum, Francesca J. Torriani, Christian Toso, Paul M. Tulkens, Allan R. Tunkel, Claire E. Turner, Andrew P. Ustianowski, Françoise van Bambeke, Reinout van Crevel, Diederik van de Beek, Christian van Delden, Menno M. van der Eerden, Jos W.M. van der Meer, Tom van der Poll, Jakko van Ingen, Jos van Putten, Bernard P. Vaudaux, Sten H. Vermund, Raphael P. Viscidi, Kumar Visvanathan, Govinda S. Visvesvara, Lorenz von Seidlein, Florian M.E. Wagenlehner, Anna Wald, Thomas J. Walsh, David C. Warhurst, David W. Warnock, David A. Warrell, Mary J. Warrell, Adilia Warris, Richard R. Watkins, David J. Weatherall, Rainer Weber, Wolfgang Weidner, Jonathan R. White, Peter J. White, James Whitehorn, Richard J. Whitley, Christopher J.M. Whitty, Willem Joost Wiersinga, Mark H. Wilcox, Thomas N. Williams, Cara C. Wilson, Mary Elizabeth Wilson, Hilmar Wisplinghoff, Robin Wood, Richard G. Wunderink, David Wyles, Zhi-Tao Yang, Jonathan S. Yoder, Najam A. Zaidi, Andrea J. Zimmer, Jane N. Zuckerman, and Alimuddin Zumla

Published
2017

13. Immunodeficiencies

Author

Steven M. Holland, Sergio D. Rosenzweig, Richard F. Schumacher, and Luigi D. Notarangelo

Published
2017

14. Long term outcomes of 176 patients with X-linked hyper IgM syndrome treated with or without hematopoietic cell transplantation

Author

Isabelle Meyts, Christopher C. Dvorak, Morna J. Dorsey, Antonio Condino-Neto, Hassan Abolhassani, Rongras Damrongwatanasuk, Reinhard Seger, John M. Routes, Trudy N. Small, Hans D. Ochs, Maria Kanariou, Carsten Speckmann, Beatriz Tavares Costa Carvalho, J. David M. Edgar, Luis Ignacio Gonzalez-Granado, Andrew R. Gennery, Victor M. Aquino, M. Teresa de la Morena, Ramsay Fuleihan, Gisela Seminario, Nancy Bunin, Neena Kapoor, Chaim M. Roifman, Alan P. Knutsen, Helen Chapel, Jiri Litzman, Lisa Kobrynski, Liliana Bezrodnik, Anna Shcherbina, Teresa Espanol, Paul Gray, Francisco A. Bonilla, Janet Chou, Andrew J. Cant, Imelda C. Hanson, Luis Murguia-Favela, Troy R. Torgerson, Christian A. Wysocki, Fatima Dhalla, Mary Slatter, Eyal Grunebaum, Andrea C. Gómez Raccio, Necil Kutukculer, Jordan K. Abbott, David Leonard, Evangelia Farmaki, Joris M. van Montfrans, Srdjan Pasic, Sharat Chandra, Ales Janda, Luigi D. Notarangelo, Melanie Wong, Otavio Cabral-Marques, M.J. Cowan, Caroline Y. Kuo, Alexandra H. Filipovich, Asghar Aghamohammadi, John W. Sleasman, Darko Richter, Karin Chen, Suranjith L. Seneviratne, Charlotte Cunningham-Rundles, Daniela DiGiovanni, and Ege Üniversitesi

Subjects
0301 basic medicine, Male, Allergy, medicine.medical_treatment, Hematopoietic stem cell transplantation, Kaplan-Meier Estimate, Hyper-IgM Immunodeficiency Syndrome, Cohort Studies, Karnofsky/Lansky scores, Immunology and Allergy, Child, Immunodeficiency, Pediatric, Hazard ratio, Hematopoietic Stem Cell Transplantation, Middle Aged, 3. Good health, Multicenter Study, surgical procedures, operative, Child, Preschool, Female, CD40 ligand, defects in class-switch recombination, long-term outcomes, Cohort study, Adult, medicine.medical_specialty, Adolescent, Immunology, Observational Study, primary immunodeficiency, Article, Time, 03 medical and health sciences, Young Adult, Clinical Research, Internal medicine, X-linked hyper-IgM syndrome, medicine, Journal Article, Humans, hematopoietic cell transplantation, Preschool, Proportional Hazards Models, Retrospective Studies, Transplantation, business.industry, Proportional hazards model, Inflammatory and immune system, Infant, Retrospective cohort study, medicine.disease, Surgery, 030104 developmental biology, Good Health and Well Being, Primary immunodeficiency, business, DOENÇAS IMUNOLÓGICAS, Follow-Up Studies
Abstract

WOS: 000398771800023, PubMed ID: 27697500, Background: X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency with high morbidity and mortality compared with those seen in healthy subjects. Hematopoietic cell transplantation (HCT) has been considered a curative therapy, but the procedure has inherent complications and might not be available for all patients. Objectives: We sought to collect data on the clinical presentation, treatment, and follow-up of a large sample of patients with XHIGM to (1) compare long-term overall survival and general well-being of patients treated with or without HCT along with clinical factors associated with mortality and (2) summarize clinical practice and risk factors in the subgroup of patients treated with HCT. Methods: Physicians caring for patients with primary immunodeficiency diseases were identified through the Jeffrey Modell Foundation, United States Immunodeficiency Network, Latin American Society for Immunodeficiency, and Primary Immune Deficiency Treatment Consortium. Data were collected with a Research Electronic Data Capture Web application. Survival from time of diagnosis or transplantation was estimated by using the Kaplan-Meier method compared with log-rank tests and modeled by using proportional hazards regression. Results: Twenty-eight clinical sites provided data on 189 patients given a diagnosis of XHIGM between 1964 and 2013; 176 had valid follow-up and vital status information. Sixty-seven (38%) patients received HCT. The average follow-up time was 8.5 +/- 7.2 years (range, 0.1-36.2 years). No difference in overall survival was observed between patients treated with or without HCT (P = .671). However, risk associated with HCT decreased for diagnosis years 1987-1995; the hazard ratio was significantly less than 1 for diagnosis years 1995-1999. Liver disease was a significant predictor of overall survival (hazard ratio, 4.9; 95% confidence limits, 2.2-10.8; P < .001). Among survivors, those treated with HCT had higher median Karnofsky/Lansky scores than those treated without HCT (P < .001). Among patients receiving HCT, 27 (40%) had graft-versus-host disease, and most deaths occurred within 1 year of transplantation. Conclusion: No difference in survival was observed between patients treated with or without HCT across all diagnosis years (1964-2013). However, survivors treated with HCT experienced somewhat greater well-being, and hazards associated with HCT decreased, reaching levels of significantly less risk in the late 1990s. Among patients treated with HCT, treatment at an early age is associated with improved survival. Optimism remains guarded as additional evidence accumulates., Jeffrey Modell Foundation; National Institutes of Health Office of Rare Diseases, National Center for Advancing Translational Sciences and National, Institute of Allergy and Infectious Disease [U54 AI 082973, R13AI094943], Supported by a grant from Jeffrey Modell Foundation (to M.d.l.M.). The Primary Immune Deficiency Treatment Consortium (PIDTC) is supported by the National Institutes of Health Office of Rare Diseases, National Center for Advancing Translational Sciences and National, Institute of Allergy and Infectious Disease grants U54 AI 082973 and R13AI094943.

Published
2016

15. List of Contributors

Author

Mark J. Abzug, Cezmi A. Akdis, Katrina Allen, Leonard B. Bacharier, Mark Ballow, Ashton Bartholow, Allan Becker, Edward M. Behrens, Bruce G. Bender, M. Cecilia Berin, Brett P. Bielory, Leonard Bielory, S. Allan Bock, Mark Boguniewicz, Francisco A. Bonilla, A. Wesley Burks, Andrew Bush, Kenny H. Chan, Mirna Chehade, Anca M. Chiriac, Lisa Cicutto, Samuel A. Collins, Ronina A. Covar, Benjamin P. Davis, Fatma Dedeoglu, Pascal Demoly, Peyton A. Eggleston, Robert Eisenberg, Thomas A. Fleisher, Luz Fonacier, Deborah A. Gentile, James E. Gern, Marion Groetch, Susanne Halken, Robert G. Hamilton, Elysia M. Hollams, Steven M. Holland, John W. Holloway, Patrick G. Holt, Arne Høst, Daniel J. Jackson, Stacie M. Jones, Meyer Kattan, Brian T. Kelly, Kevin J. Kelly, Susan Kim, Donald B. Kohn, Howard M. Lederman, Heather K. Lehman, Robert F. Lemanske, Donald Y.M. Leung, Chris A. Liacouras, Andrew H. Liu, Gabrielle A. Lockett, Jonathan E. Markowitz, Fernando D. Martinez, Elizabeth C. Matsui, Bruce D. Mazer, Henry Milgrom, Amanda B. Muir, Harold S. Nelson, David P. Nichols, Luigi D. Notarangelo, Natalija Novak, Anna Nowak-Węgrzyn, Hans C. Oettgen, J. Tod Olin, Joao Bosco Oliveira, Hanneke (Joanne) N.G. Oude Elberink, Oscar Palomares, Wanda Phipatanakul, Nicole Pleskovic, Susan Prescott, Sergio D. Rosenzweig, Marc E. Rothenberg, Hugh A. Sampson, William J. Sheehan, Scott H. Sicherer, F. Estelle R. Simons, David P. Skoner, Joseph D. Spahn, Robert C. Strunk, Kathleen E. Sullivan, Robert P. Sundel, Stanley J. Szefler, Troy R. Torgerson, Erika von Mutius, Rudolph S. Wagner, Julie Wang, Richard W. Weber, Robert A. Wood, and Bruce L. Zuraw

Published
2016

16. Human Genetic Defects Resulting in Increased Susceptibility to Viral Infections

Author

Luigi D. Notarangelo

Subjects
viruses, MDA5, Context (language use), Biology, medicine.disease, Virology, Immune system, Viral replication, Interferon, Viral entry, Immunity, Immunology, medicine, Primary immunodeficiency, medicine.drug
Abstract

Protection against viral infections requires a complex series of mechanisms, including integrity of epithelial and mucosal barriers, cell-intrinsic mechanisms of recognition of viral nucleic acids, and both innate and adaptive immune responses. In particular, T and natural killer (NK) cells play a critical role in antiviral immune responses by killing virus-infected cells. Moreover, recognition of viral nucleic acids by Toll-like receptors and RIG-I/MDA5 induce type I and type III interferon (IFN) responses in virus-infected cells, promoting expression of IFN-dependent genes, which encode proteins that restrain viral replication and infectivity. This article reviews a large number of inborn errors of immunity that result in increased susceptibility to viral infections, either in the context of a broader susceptibility to infections or as selective predisposition to viral infections.

Published
2016

17. Hematopoietic Stem Cell Therapy

Author

Donald B. Kohn and Luigi D. Notarangelo

Subjects
medicine.anatomical_structure, business.industry, Cancer research, Medicine, Hematopoietic stem cell, business
Published
2016

18. Immunodeficiency Disorders

Author

Luigi D. Notarangelo, Rochelle Hirschhorn, and Kurt Hirschhorn

Subjects
business.industry, medicine, medicine.disease, business, Virology, Immunodeficiency
Published
2014

19. From Immunodeficiency to Autoimmunity

Author

Luigi D. Notarangelo

Subjects
Ectodermal dystrophy, Autoimmune polyendocrinopathy, biochemical phenomena, metabolism, and nutrition, Immune dysregulation, Biology, medicine.disease_cause, medicine.disease, Omenn syndrome, Autoimmunity, Immune system, Immunology, medicine, bacteria, Enteropathy, Immunodeficiency
Abstract

Following the discovery of the basic principles of immune responses, autoimmunity and immune deficiency have been considered to be at the opposite ends of the spectrum of disorders of immune function. Yet, clinical observations had shown that immunodeficiency is often associated with prominent manifestations of immune dysregulation. The study of two rare monogenic autoimmune diseases (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy, APECED and immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome) has led to the identification of key processes that govern T-cell tolerance. Investigation of the molecular and cellular basis of Omenn syndrome, a rare form of combined immune deficiency, has established that the same mechanisms of T-cell tolerance were in check. This has opened the way to a series of studies that have ultimately led to recognition that autoimmunity often goes hand-in-hand with severe forms of immunodeficiency.

Published
2014

20. Combined Immunodeficiencies with Nonfunctional T Lymphocytes

Author

Luigi D. Notarangelo

Subjects
Severe combined immunodeficiency, T cell, Lymphocyte differentiation, Immune dysregulation, Biology, medicine.disease, medicine.disease_cause, Autoimmunity, Combined immunodeficiencies, medicine.anatomical_structure, Immunology, medicine, IL-2 receptor, Immunodeficiency
Abstract

Immunodeficiencies with nonfunctional T cells comprise a heterogeneous group of conditions characterized by altered function of T lymphocytes in spite of largely preserved T cell development. Some of these forms are due to hypomorphic mutations in genes causing severe combined immunodeficiency. More recently, advances in human genome sequencing have facilitated the identification of novel genetic defects that do not affect T cell development, but alter T cell function and homeostasis. Along with increased susceptibility to infections, these conditions are characterized by autoimmunity and higher risk of malignancies. The study of these diseases, and of corresponding animal models, has provided fundamental insights on the mechanisms that govern immune homeostasis.

Published
2014

21. Section D. Immune Dysregulation Syndromes

Author

Luigi D. Notarangelo

Subjects
business.industry, Section (typography), Immunology, medicine, Immune dysregulation, medicine.disease_cause, business
Published
2014

22. List of Contributors

Author

Mark Ballow, Mohamed-Ridha Barbouche, Vincent R. Bonagura, Francisco A. Bonilla, Sarah K. Browne, Fabio Candotti, Magda Carneiro-Sampaio, Talal A. Chatila, Yanick J. Crow, Charlotte Cunningham-Rundles, Rebeca Pérez de Diego, Adriana A. de Jesus, Geneviève de Saint Basile, Esther de Vries, Inderjeet Dokal, Anne Durandy, Stephan Ehl, Robert Eisenberg, Brian Eley, Amos Etzioni, Polly J. Ferguson, Thomas A. Fleisher, Michael M. Frank, Alexandra F. Freeman, Eleonora Gambineri, Benjamin Gathmann, Raif S. Geha, Andrew R. Gennery, Erik-Oliver Glocker, Raphaela Goldbach-Mansky, John M. Graham, Bodo Grimbacher, Elie Haddad, Sophie Hambleton, Suheir Hanna, Steven M. Holland, Jean-Pierre de Villartay, Sara Kashef, Christoph Klein, Donald B. Kohn, Sven Kracker, Yu-Lung Lau, Pamela Lee, Heather Lehman, Jennifer W. Leiding, Lily E. Leiva, Michael J. Lenardo, Arnold I. Levinson, Robert Y. Lin, Vassilios Lougaris, M. Louise Markert, Rebecca A. Marsh, László Maródi, David H. McDermott, Douglas R. McDonald, Stephen J. McGeady, Joshua D. Milner, Jeffrey E. Ming, Despina Moshous, Ludmila Müller, Kim E. Nichols, Luigi D. Notarangelo, Hans Ochs, João Bosco Oliveira, Jordan S. Orange, Roberto Paganelli, Graham Pawelec, Elena E. Perez, Alessandro Plebani, Oscar Porras, Jennifer M. Puck, Isabella Quinti, Nima Rezaei, Carlos Rodríguez-Gallego, Sergio D. Rosenzweig, John M. Routes, Irini Sereti, Ricardo U. Sorensen, Carsten Speckmann, Helen C. Su, Kathleen E. Sullivan, M. Teresa de la Morena, Troy Torgerson, James Treat, Mirjam van der Burg, Silvère M. van der Maarel, James W. Verbsky, Anna Villa, Klaus Warnatz, Corry M.R. Weemaes, Hale Yarmohammadi, Joyce E. Yu, John B. Ziegler, and Heddy Zola

Published
2014

23. Severe Combined Immunodeficiencies

Author

Jean-Pierre de Villartay, Luigi D. Notarangelo, Despina Moshous, Fabio Candotti, and Anna Villa

Subjects
Severe combined immunodeficiency, Peripheral tolerance, Biology, Immune dysregulation, medicine.disease, medicine.disease_cause, Combined immunodeficiencies, Immune system, Immunology, Failure to thrive, medicine, medicine.symptom, Central tolerance, Immunodeficiency
Abstract

Severe combined immune deficiencies (SCIDs) represent a heterogeneous group of inherited disorders characterized by severe impairment of T and/or B cell development. The clinical presentation can be relatively uniform, including life-threatening infections and failure to thrive, and is associated in many cases with a broad spectrum of clinical manifestations, including inflammation, autoimmunity, and lymphoproliferative diseases. Because of the severity of the clinical manifestations, SCID is a pediatric emergency which, if not recognized early, can be fatal. Genetic studies and recent advances in genome sequencing have greatly unraveled the molecular basis of SCID and in parallel have highlighted the role played by various genes in the differentiation of T and B cells. Furthermore, compelling evidence has demonstrated the complex molecular heterogeneity underlying similar immunophenotypes, and in other cases has shown that defects in the same molecule might result in different clinical manifestations. Overall, these findings highlight the relevance of genetic studies and suggest the use of molecular and immunological studies as a comprehensive approach to rapid diagnosis of immunodeficiency. In this chapter are described the clinical and immunological phenotypes and recent insights into the pathophysiology of clinical manifestations of immune dysregulation associated with immunodeficiency.

Published
2014

25. Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia

Author

D. Holmes Morton, Francisco A. Bonilla, Erwin W. Gelfand, Nicholas L. Rider, Itai M. Pessach, Margaret Adair, Mike Recher, Luigi D. Notarangelo, Sung-Yun Pai, Kevin A. Strauss, Jolan E. Walter, Alejandra King, Miguel Angel de la Fuente, Silvia Giliani, and Hans D. Ochs

Subjects
Male, Mitochondrial RNA processing, RNA, Untranslated, Adolescent, Genotype, Primary Immunodeficiency Diseases, T-Lymphocytes, Immunology, Recent Thymic Emigrant, Apoptosis, Lymphocyte proliferation, Cell Separation, Thymus Gland, Biology, Osteochondrodysplasias, Polymerase Chain Reaction, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Immune system, Sistema inmunitario - Enfermedades, Cartilage–hair hypoplasia, medicine, Immunology and Allergy, Humans, Hirschsprung Disease, Child, Immunodeficiency, 030304 developmental biology, 0303 health sciences, Cell Cycle, Immunologic Deficiency Syndromes, Infant, T lymphocyte, Cell cycle, medicine.disease, Flow Cytometry, 3. Good health, Phenotype, Child, Preschool, Mutation, Female, RNA, Long Noncoding, 030215 immunology, Hair
Abstract

[Background]: Cartilage-hair hypoplasia (CHH) is characterized by metaphyseal dysplasia, bone marrow failure, increased risk of malignancies, and a variable degree of immunodeficiency. CHH is caused by mutations in the RNA component of the mitochondrial RNA processing (RMRP) endoribonuclease gene, which is involved in ribosomal assembly, telomere function, and cell cycle control. [Objectives]: We aimed to define thymic output and characterize immune function in a cohort of patients with molecularly defined CHH with and without associated clinical immunodeficiency. [Methods]: We studied the distribution of B and T lymphocytes (including recent thymic emigrants), in vitro lymphocyte proliferation, cell cycle, and apoptosis in 18 patients with CHH compared with controls. [Results]: Patients with CHH have a markedly reduced number of recent thymic emigrants, and their peripheral T cells show defects in cell cycle control and display increased apoptosis, resulting in poor proliferation on activation. [Conclusion]: These data confirm that RMRP mutations result in significant defects of cell-mediated immunity and provide a link between the cellular phenotype and the immunodeficiency in CHH., Supported by the Manton Foundation. M. Recher was supported by the Swiss National Science Foundation (SSMB; grant PASMP3-127678/1).

Published
2011

26. Contributors

Author

Soraya Abbasi, S. Lee Adamson, Anne M. Ades, N. Scott Adzick, Kurt H. Albertine, Steven M. Altschuler, Ruben E. Alvaro, Russell V. Anthony, Shankari Arulkumaran, Richard L. Auten, Mary Ellen Avery, Ellis D. Avner, H. Scott Baldwin, Philip L. Ballard, Eduardo Bancalari, David J.P. Barker, Damien Bates, Frederick C. Battaglia, †Karl Bauer, Gary K. Beauchamp, Corinne Benchimol, Laura Bennet, Phillip R. Bennett, Robert A. Berg, Melvin Berger, Monica Bhatia, Vinod K. Bhutani, Stan R. Blecher, Arlin B. Blood, David L. Bolender, Rada Boskovic, Robert D.H. Boyd, Robert A. Brace, Eileen D. Brewer, Delma L. Broussard, Laura D. Brown, Douglas G. Burrin, Bridgette M.P. Byrne, Anne Grete Byskov, Mitchell S. Cairo, Barbara Cannon, Michael Caplan, Luke C. Carey, Susan E. Carlson, David P. Carlton, William J. Cashore, Yang Chai, Carol L. Cheatham, Sylvain Chemtob, Robert L. Chevalier, Sadhana Chheda, Robert D. Christensen, David H. Chu, Robert Ryan Clancy, M. Thomas Clandinin, David A. Clark, Jane Cleary-Goldman, Ronald I. Clyman, Susan S. Cohen, John Colombo, Howard E. Corey, Robert B. Cotton, Beverly J. Cowart, Richard M. Cowett, Leona Cuttler, Mary E. D’Alton, Enrico Danzer, Elmer S. David, Diva D. De León, Maria Delivoria-Papadopoulos, Raye-Ann Odegaard deRegnier, Thomas G. Diacovo, George A. Diaz, Chris J. Dickinson, John P. Dormans, Kerry McGarr Empey, Offer Erez, Robert P. Erickson, Bulent Erol, Mohamed Abdelmonem Fahim, Leonard G. Feld, Miguel Feldman, Ronaldo P. Ferraris, Douglas G. Field, Delbert A. Fisher, Jennifer Frances, Hans-Georg Frank, Philippe S. Friedlich, Aaron L. Friedman, Joshua R. Friedman, Marianne Garland, Michael K. Georgieff, Peter D. Gluckman, Armond S. Goldman, Roberto Ariel Gomez, Francesca Gotsch, Denis M. Grant, Lucy R. Green, Adda Grimberg, Justin C. Grindley, Ian Gross, M. Brad Guffey, Jean-Pierre Guignard, Alistair Jan Gunn, Gabriel G. Haddad, J. Nathan Hagstrom, J. Nina Ham, Simon J. Hambidge, Margit Hamosh, Mark A. Hanson, Richard Harding, Olga T. Hardy, Mary Catherine Harris, Musa A. Haxhiu, William W. Hay, null Jr., William C. Heird, Emilio Herrera, Harry R. Hill, A. Craig Hillemeier, Kurt Hirschhorn, Steven B. Hoath, Stuart B. Hooper, Tracy E. Hunley, Shahid M. Husain, Susan M. Hutson, Machiko Ikegami, Terrie E. Inder, John Lynn Jefferies, Alan H. Jobe, Lois H. Johnson, Sonja E. Johnson, Michael V. Johnston, Richard B. Johnston, Deborah P. Jones, Peter Lloyd Jones, Rebecca L. Jones, Pedro A. Jose, Satish C. Kalhan, Suhas G. Kallapur, Stanley Kaplan, Heidi Eigenrauch Karpen, Saul J. Karpen, Sudha Kashyap, Frederick J. Kaskel, Lorraine E. Levitt Katz, Susan E. Keeney, Omar S. Khwaja, Laurie E. Kilpatrick, David Winston Kimberlin, John P. Kinsella, Jay K. Kolls, Valentina Kon, Ernest A. Kopecky, Gideon Koren, Nancy F. Krebs, Thomas J. Kulik, Juhi Kumar, Juan Pedro Kusanovic, Jessica Katz Kutikov, Timothy R. La Pine, Miguel Angel Lasunción, Tucker W. LeBien, Mary M. Lee, Matthew K. Lee, Fred Levine, Chris A. Liacouras, †Michael A. Linshaw, Steven Lobritto, Cynthia A. Loomis, Maria Luisa S. Sequeira Lopez, John M. Lorenz, Felicia M. Low, Ralph A. Lugo, Akhil Maheshwari, Shadi N. Malaeb, Carlos B. Mantilla, M. Michele Mariscalco, László Maródi, Karel Maršál, Richard J. Martin, Dwight E. Matthews, Alan N. Mayer, Jane E. McGowan, James L. McManaman, Tim C. McQuinn, Huseyin Mehmet, Julie A. Mennella, Martha J. Miller, Helen A. Mintz-Hittner, Paul Monagle, Iona M. Monteiro, Jacopo P. Mortola, Glen E. Mott, Maka Mshvildadze, M. Zulficar Mughal, Susan E. Mulroney, Upender K. Munshi, Leslie Myatt, Margaret Myers, Ran Namgung, Sumana Narasimhan, Heinz Nau, Jan Nedergaard, Josef Neu, Margaret Cobb Neville, Heber C. Nielsen, Lee Niswander, Lawrence M. Nogee, Shahab Noori, Victoria Fay Norwood, Luigi D. Notarangelo, Edward S. Ogata, Robin Kjerstin Ohls, Taher I. Omari, James F. Padbury, Mark R. Palmert, Prabhu S. Parimi, Elvira Parravicini, Gilberto R. Pereira, Jeffrey M. Perlman, Anthony F. Philipps, Arthur S. Pickoff, Grisha Pirianov, David Pleasure, Jeanette Pleasure, Sabine Luise Plonait, Daniel H. Polk, Scott L. Pomeroy, Fred Possmayer, Martin Post, Brandon S. Poterjoy, Gordon G. Power, Jorge A. Prada, Lawrence S. (Lance) Prince, Guy Putet, Theodore J. Pysher, Marlene Rabinovitch, Scott H. Randell, Timothy Robert Hume Regnault, Jann Rhodes, Michael J. Rieder, Henrique Rigatto, Natalie E Rintoul, Roberto Romero, Seamus A. Rooney, James C. Rose, Charles R. Rosenfeld, Arthur J. Ross, Colin D. Rudolph, Martin Rutter, Thor Willy Ruud-Hansen, Rakesh Sahni, Harvey B. Sarnat, Lisa M. Satlin, Ola Didrik Saugstad, Kurt R. Schibler, Frank C. Schmalstieg, Karl Schulze, Jeffrey Schwartz, Gunnar Sedin, Jeffrey L. Segar, Istvan Seri, Thomas H. Shaffer, Philip W. Shaul, Jayant P. Shenai, Colin P. Sibley, Gary C. Sieck, Theresa M. Siler-Khodr, Rebecca Anne Simmons, Emidio M. Sivieri, Harold C. Slavkin, Brian S. Snarr, Evan Y. Snyder, Jeanne M. Snyder, Martha Sola-Visner, Michael J. Solhaug, Charles A. Stanley, F. Bruder Stapleton, Barbara S. Stonestreet, Dennis M. Styne, William E. Sweeney, Deanna T. Taylor, Paul S. Thornton, Jeffrey A. Towbin, William E. Truog, Reginald C. Tsang, Nicole Ullrich, Edi Vaisbuch, John E. Van Aerde, Carmella van de Ven, Johannes (Hans) B. van Goudoever, Minke Van Tuyl, Robert C. Vannucci, Susan J. Vannucci, Matteo Vatta, Daniela Virgintino, Joseph J. Volpe, MaryAnn V. Volpe, Reidar Wallin, David Warburton, Robert M. Ward, Kristi L. Watterberg, Steven L. Werlin, Lynne A. Werner, Susan E. Wert, Andy Wessels, †Lars Grabow Westergaard, Jeffrey A. Whitsett, Michaelann S. Wilke, Louise Wilkins-Haug, †Dermot H. Williamson, Craig B. Woda, Douglas A. Woelkers, Marla R. Wolfson, Robert P. Woroniecki, Stephen Yip, Mervin C. Yoder, Stephen L. Young, and Dan Zhou

Published
2011

28. Immunodeficiencies

Author

Luigi D. Notarangelo, Steven M. Holland, Sergio D. Rosenzweig, and Richard-Fabian Schumacher

Subjects
business.industry, Medicine, business
Published
2010

29. Bone Marrow Transplantation

Author

Luigi D. Notarangelo and Evelina Mazzolari

Subjects
Pathology, medicine.medical_specialty, Bone marrow transplantation, business.industry, Medicine, business
Published
2010

30. T Cell Immunodeficiencies

Author

Luigi D. Notarangelo

Subjects
medicine.anatomical_structure, T cell, Immunology, medicine, Biology
Published
2010

31. List of Contributors

Author

Leonard B. Bacharier, Mark Ballow, Bruce G. Bender, M. Cecilia Berin, Leonard Bielory, S. Allan Bock, Mark Boguniewicz, Catherine M. Bollard, Francisco A. Bonilla, Malcolm K. Brenner, Wesley Burks, Martin D. Chapman, Mirna Chehade, Loran T. Clement, Ronina A. Covar, Conrad Russell Y. Cruz, Shelley A. Davis, Charles W. DeBrosse, Fatma Dedeoglu, Rosemarie DeKruyff, Peyton A. Eggleston, Harold J. Farber, Thomas A. Fleisher, Luz Fonacier, Noah J. Friedman, Erwin W. Gelfand, Deborah A. Gentile, James E. Gern, Marion Groetch, Theresa Guilbert, Susanne Halken, Robert G. Hamilton, Ronald J. Harbeck, Stephen T. Holgate, Elysia M. Hollams, Steven M. Holland, J. Roger Hollister, John W. Holloway, Patrick G. Holt, Arne Høst, Alan K. Ikeda, John M. James, Erin Janssen, Craig A. Jones, James F. Jones, Stacie M. Jones, Kevin J. Kelly, Susan Kim, Donald B. Kohn, Gary L. Larsen, Howard M. Lederman, Heather K. Lehman, Robert F. Lemanske, Donald Y.M. Leung, Chris A. Liacouras, Andrew H. Liu, Claudia Macaubas, Jonathan E. Markowitz, Fernando D. Martinez, Elizabeth C. Matsui, Bruce D. Mazer, Evelina Mazzolari, Louis M. Mendelson, Henry Milgrom, Harold S. Nelson, David P. Nichols, Luigi D. Notarangelo, Natalija Novak, Hans C. Oettgen, Joao Bosco Oliveira, Catherine Origlieri, Mary E. Paul, Robert E. Reisman, Matthew J. Rose-Zerilli, Sergio D. Rosenzweig, Marc E. Rothenberg, Julie Rowe, Hugh A. Sampson, Filiz O. Seeborg, Lauren M. Segal, William T. Shearer, Andrew I. Shulman, Scott H. Sicherer, F. Estelle R. Simons, David P. Skoner, Roland Solensky, Joseph D. Spahn, David A. Stempel, Philippe Stock, Robert C. Strunk, Kathleen E. Sullivan, Robert P. Sundel, Stanley J. Szefler, Lynn M. Taussig, Troy R. Torgerson, Dale T. Umetsu, Erika von Mutius, Rudolph S. Wagner, Richard W. Weber, Sandra R. Wilson, Robert A. Wood, and Bruce L. Zuraw

Published
2010

32. Primary immunodeficiency diseases

Author

Amos Etzioni, Mimi L.K. Tang, Jean-Laurent Casanova, Jennifer M. Puck, Charlotte Cunningham-Rundles, Raif S. Geha, Chaim M. Roifman, Hans D. Ochs, Lennart Hammarström, Aziz Bousfiha, Shigeaki Nonoyama, Waleed Al-Herz, Reinhard Seger, Mary Ellen Conley, José Luis Franco, Helen Chapel, Luigi D. Notarangelo, and Alain Fischer

Subjects
business.industry, Genotype, Primary immunodeficiency, Medicine, business, medicine.disease, Virology
Published
2009

33. Contributors

Author

Shizuo Akira, Juan Anguita, Gregory M. Anstead, Cynthia Aranow, Howard A. Austin, Subash Babu, James R. Baker, Christopher S. Baliga, Mark Ballow, James E. Balow, Emil J. Bardana, Matthias D. Becker, John W. Belmont, Dina Ben-Yehuda, Claudia Berek, Thomas Bieber, Johannes W.J. Bijlsma, Jack J.H. Bleesing, Sarah E. Blutt, Elena Borzova, Prosper N. Boyaka, Knut Brockow, Ralph C. Budd, Frank Buttgereit, Virginia L. Calder, Fabio Candotti, Sebastian Carotta, Jean-Laurent Casanova, Marilia Cascalho, Edwin S.L. Chan, Javier Chinen, Monique E. Cho, Lisa Christopher-Stine, Helen L. Collins, Andrew P. Cope, Irene Cortese, Bruce N. Cronstein, Adnan Custovic, Marinos C. Dalakas, Blythe H. Devlin, Betty Diamond, Angela Dispenzieri, Joost P.H. Drenth, Terry W. Du Clos, Mark S. Dykewicz, Todd N. Eagar, George S. Eisenbarth, Charles O. Elson, Doruk Erkan, Mark Feinberg, Erol Fikrig, Alain Fischer, Thomas A. Fleisher, Andrew P. Fontenot, Karen A. Fortner, Anthony J. Frew, Thea M. Friedman, Kohtaro Fujihashi, Stephen J. Galli, Moshe E. Gatt, M. Eric Gershwin, Jörg J. Goronzy, Clive E.H. Grattan, Neil S. Greenspan, Beatrix Grubeck-Loebenstein, Gabrielle Haeberli, Russell P. Hall, Robert G. Hamilton, Gregory R. Harriman, Khaled M. Hassan, Arthur Helbling, David B. Hellmann, Vivian Hernandez-Trujillo, Melanie Hingorani, Steven M. Holland, Henry A. Homburger, McDonald Horne, Gabor Illei, John Imboden, Ken J. Ishii, Shai Izraeli, Elaine S. Jaffe, Sirpa Jalkanen, Carl H. June, Barry D. Kahan, Axel Kallies, Stefan H.E. Kaufmann, Arthur F. Kavanaugh, Gary Koretzky, Robert Korngold, Rania D. Kovaiou, Douglas B. Kuhns, Roger Kurlander, Robert A. Kyle, H. Clifford Lane, Arian Laurence, Françoise Le Deist, Susan J. Lee, Steven J. Lemery, Michael J. Lenardo, Arnold I. Levinson, David B. Lewis, Dorothy E. Lewis, Jay Lieberman, Phil Lieberman, Sue L. Lightman, Michael D. Lockshin, Michael T. Lotze, Meggan Mackay, Jonathan S. Maltzman, Michael P. Manns, Markus Y. Mapara, Susana Marinho, M. Louise Markert, Alberto Martini, Seth L. Masters, Evelina Mazzolari, Henry F. McFarland, Jerry R. McGhee, Frank McKenna, Peter C. Melby, Dean D. Metcalfe, Martin Metz, Joann M. Mican, Stephen D. Miller, Carolyn Mold, David R. Moller, Anthony Montanaro, Scott N. Mueller, Ulrich R. Müller, Philip M. Murphy, Pierre Noel, Luigi D. Notarangelo, Thomas B. Nutman, Stephen L. Nutt, João Bosco de Oliveira, Stephen N. Oliver, Chris M. Olson, John O'shea, Mary E. Paul, Erik J. Peterson, Capucine Picard, Werner J. Pichler, Stanley R. Pillemer, Stefania Pittaluga, Jeffrey L. Platt, Paul H. Plotz, Andreas Radbruch, Angelo Ravelli, John D. Reveille, Robert R. Rich, Margaret E. Rick, Kimberly A. Risma, John R. Rodgers, Antony Rosen, James T. Rosenbaum, Marc E. Rothenberg, Barry T. Rouse, Scott Rowley, Martina Rudelius, Shimon Sakaguchi, Marko Salmi, Ulrich E. Schaible, Harry W. Schroeder, Marvin I. Schwarz, Markus J.H. Seibel, Carlo Selmi, William M. Shafer, Prediman K. Shah, Maryam Shahbaz-Samavi, Alan R. Shaw, William T. Shearer, Scott H. Sicherer, Richard Siegel, Ravinder Jit Singh, Justine R. Smith, Phillip D. Smith, Michael C. Sneller, John W. Steinke, David S. Stephens, John H. Stone, Helen C. Su, Cristina M. Tato, Raul M. Torres, Gülbû Uzel, Jeroen C.H. van der Hilst, Jos W.M. van der Meer, John Varga, José A. Villadangos, Su He Wang, Birgit Weinberger, Peter F. Weller, Cornelia M. Weyand, Fredrick M. Wigley, Robert J. Winchester, Kajsa Wing, Louise J. Young, and Li Zuo

Published
2008

35. Immunodeficiencies with Autoimmune Consequences

Author

Raffaele Badolato, Eleonora Gambineri, and Luigi D. Notarangelo

Subjects
Immunology, medicine, Regulator, Forkhead Box, Dystrophy, FOXP3, Biology, Central tolerance, medicine.disease, medicine.disease_cause, Omenn syndrome, Immunodeficiency, Autoimmunity
Abstract

Far from being mutually exclusive, immunodeficiency and autoimmunity may occur simultaneously. During the last years, analysis of Autoimmune Polyendocrinopathy--Candidiasis--Ectodermal Dystrophy (APECED) and Immunodysregulation--Polyendocrinopathy--Enteropathy--X-linked (IPEX), two rare monogenic forms of immunodeficiency associated with autoimmunity, has led to the identification of Auto Immune Regulator (AIRE) and Forkhead Box P3 (FOXP3), essential transcriptional regulators, involved in central tolerance and peripheral immune homeostasis, respectively. Characterization of the molecular and cellular mechanisms involved in APECED, and recognition that AIRE expression is sustained by effective thymopoiesis, has recently allowed to define that the autoimmunity of Omenn syndrome, a combined immunodeficiency due to defects of V(D)J recombination, also results from defective expression of AIRE. The implications of identification of the basis of autoimmunity in these rare forms of immunodeficiency have important implications for a better understanding of more common autoimmune disorders, and for development of novel therapeutic approaches.

Published
2006

36. 4 Primary immunodeficiency mutation databases

Author

Luigi D. Notarangelo, Jouni Väliaho, Paolo Vezzoni, Silvia Giliani, Leif Hammarström, A Lahdesmaki, Jean-Laurent Casanova, Klaus Schwarz, Francisco X. Arredondo-Vega, Anna Villa, Ilkka Lappalainen, Richard Fabian Schumacher, PG Heyworth, Amos Etzioni, D. Roos, Amy P. Hsu, Jennifer M. Puck, Walter Reith, Mauno Vihinen, Hershfield, and C. I. E. Smith

Subjects
Genetics, 0303 health sciences, Mutation, Biology, medicine.disease_cause, medicine.disease, Penetrance, Phenotype, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, CpG site, medicine, Primary immunodeficiency, Missense mutation, Allele, Gene, 030304 developmental biology, 030215 immunology
Abstract

Primary immunodeficiencies are intrinsic defects of immune systems. Mutations in a large number of cellular functions can lead to impaired immune responses. More than 80 primary immunodeficiencies are known to date. During the last years genes for several of these disorders have been identified. Here, mutation information for 23 genes affected in 14 immunodefects is presented. The proteins produced are employed in widely diverse functions, such as signal transduction, cell surface receptors, nucleotide metabolism, gene diversification, transcription factors, and phagocytosis. Altogether, the genetic defect of 2,140 families has been determined. Diseases with X-chromosomal origin constitute about 70% of all the cases, presumably due to full penetrance and because the single affected allele causes the phenotype. All types of mutations have been identified; missense mutations are the most common mutation type, and truncation is the most common effect on the protein level. Mutational hotspots in many disorders appear in CPG dinucleotides. The mutation data for the majority of diseases are distributed on the Internet with a special database management system, MUTbase. Despite large numbers of mutations, it has not been possible to make genotype-phenotype correlations for many of the diseases.

Published
2001

37. 3. Molecular Basis for X-Linked Immunodeficiencies

Author

Luigi D. Notarangelo and C. I. E. Smith

Subjects
Genetics, Candidate gene, Mutation, Severe combined immunodeficiency, Positional cloning, Biology, medicine.disease_cause, medicine.disease, Phenotype, hemic and lymphatic diseases, medicine, Signal transduction, Gene, Immunodeficiency
Abstract

Publisher Summary This chapter focuses on four X-linked disorders—X-linked agammaglobulinemia (XLA), X-linked severe combined immunodeficiency (XSCID), Wiskott–Aldrich (WAS), and hyper-IgM (HIGM) syndromes. These disorders all result in an increased susceptibility to infections, with each disease having its typical spectrum. The defective genes are reported and are isolated by positional cloning in XLA and WAS and by the candidate gene approach in HIGM and XSCID. At least three of the gene products are involved in signal transduction, representing receptors (HIGM, XSCID) or cytoplasmic transducers (XLA). The cloning of several of the classical X-linked immunodeficiency genes has enabled rapid developments in the field of immunology and has far-reaching implications. Because many of the gene products are involved in receptor-mediated signal transduction, this has resulted in a better understanding of signaling pathways. These findings also add to the notion that signaling molecules frequently are targets for human disease. DNA-based mutation analysis has been carried out in large numbers of immunodeficiency patients, and the generation of databases simplifying the handling of this vast amount of information has been initiated.

Published
1997

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