Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression

por Ovadia, Adi, Sharfe, Nigel, Hawkins, Cynthia, Laughlin, Suzanne, Roifman, Chaim M.
Publicado 2018

STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses

por Scott, Ori, Lindsay, Kyle, Erwood, Steven, Mollica, Antonio, Roifman, Chaim M., Cohn, Ronald D., Ivakine, Evgueni A.
Publicado 2021

Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience

por Mandola, Amarilla B., Reid, Brenda, Sirror, Raga, Brager, Rae, Dent, Peter, Chakroborty, Pranesh, Bulman, Dennis E., Roifman, Chaim M.
Publicado 2019

The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free...

por Scott, Ori, Visuvanathan, Shagana, Reddy, Emily, Mahamed, Deeqa, Gu, Bin, Roifman, Chaim M., Cohn, Ronald D., Guidos, Cynthia J., Ivakine, Evgueni A.
Publicado 2023

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

por Dinur Schejter, Yael, Ovadia, Adi, Alexandrova, Roumiana, Thiruvahindrapuram, Bhooma, Pereira, Sergio L., Manson, David E., Vincent, Ajoy, Merico, Daniele, Roifman, Chaim M.
Publicado 2017

Mitochondrial Basis for Immune Deficiency: Evidence from Purine Nucleoside Phosphorylase–Deficient Mice

por Arpaia, Enrico, Benveniste, Patricia, Di Cristofano, Antonio, Gu, Yiping, Dalal, Ilan, Kelly, Susan, Hershfield, Michael, Pandolfi, Pier Paolo, Roifman, Chaim M., Cohen, Amos
Publicado 2000

Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant

por Scott, Ori, Sharfe, Nigel, Dadi, Harjit, Vong, Linda, Garkaby, Jenny, Abrego Fuentes, Laura, Willett Pachul, Jessica, Nelles, Sandra, Nahum, Amit, Roifman, Chaim M.
Publicado 2022

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168

por Chinn, Ivan K., Sanders, Robert P., Stray-Pedersen, Asbjørg, Coban-Akdemir, Zeynep H., Kim, Vy Hong-Diep, Dadi, Harjit, Roifman, Chaim M., Quigg, Troy, Lupski, James R., Orange, Jordan S., Hanson, I. Celine
Publicado 2017

Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns

por Olthof, Anouk M, White, Alisa K, Mieruszynski, Stephen, Doggett, Karen, Lee, Madisen F, Chakroun, Almahdi, Abdel Aleem, Alice K, Rousseau, Justine, Magnani, Cinzia, Roifman, Chaim M, Campeau, Philippe M, Heath, Joan K, Kanadia, Rahul N
Publicado 2021

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

por Merico, Daniele, Pasternak, Yehonatan, Zarrei, Mehdi, Higginbotham, Edward J., Thiruvahindrapuram, Bhooma, Scott, Ori, Willett-Pachul, Jessica, Grunebaum, Eyal, Upton, Julia, Atkinson, Adelle, Kim, Vy H. D., Aliyev, Elbay, Fakhro, Khalid, Scherer, Stephen W., Roifman, Chaim M.
Publicado 2021

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia

por Elkadri, Abdul, Thoeni, Cornelia, Deharvengt, Sophie J., Murchie, Ryan, Guo, Conghui, Stavropoulos, James D., Marshall, Christian R., Wales, Paul, Bandsma, Robert H.J., Cutz, Ernest, Roifman, Chaim M., Chitayat, David, Avitzur, Yaron, Stan, Radu V., Muise, Aleixo M.
Publicado 2015

Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression

por Muñoz-Ruiz, Miguel, Pérez-Flores, Verónica, Garcillán, Beatriz, Guardo, Alberto C, Mazariegos, Marina S, Takada, Hidetoshi, Allende, Luis M, Kilic, Sara S, Sanal, Ozden, Roifman, Chaim M, López-Granados, Eduardo, Recio, María J, Martínez-Naves, Eduardo, Fernández-Malavé, Edgar, Regueiro, José R
Publicado 2013

New insights into minor splicing—a transcriptomic analysis of cells derived from TALS patients

por Cologne, Audric, Benoit-Pilven, Clara, Besson, Alicia, Putoux, Audrey, Campan-Fournier, Amandine, Bober, Michael B., De Die-Smulders, Christine E.M., Paulussen, Aimee D.C., Pinson, Lucile, Toutain, Annick, Roifman, Chaim M., Leutenegger, Anne-Louise, Mazoyer, Sylvie, Edery, Patrick, Lacroix, Vincent
Publicado 2019

Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

por Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chapel, Helen, Conley, Mary Ellen, Cunningham-Rundles, Charlotte, Etzioni, Amos, Fischer, Alain, Franco, Jose Luis, Geha, Raif S., Hammarström, Lennart, Nonoyama, Shigeaki, Notarangelo, Luigi Daniele, Ochs, Hans Dieter, Puck, Jennifer M., Roifman, Chaim M., Seger, Reinhard, Tang, Mimi L. K.
Publicado 2011

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

por Merico, Daniele, Roifman, Maian, Braunschweig, Ulrich, Yuen, Ryan K. C., Alexandrova, Roumiana, Bates, Andrea, Reid, Brenda, Nalpathamkalam, Thomas, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Gray, Paul, Kakakios, Alyson, Peake, Jane, Hogarth, Stephanie, Manson, David, Buncic, Raymond, Pereira, Sergio L., Herbrick, Jo-Anne, Blencowe, Benjamin J., Roifman, Chaim M., Scherer, Stephen W.
Publicado 2015

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

por Kahr, Walter H. A., Pluthero, Fred G., Elkadri, Abdul, Warner, Neil, Drobac, Marko, Chen, Chang Hua, Lo, Richard W., Li, Ling, Li, Ren, Li, Qi, Thoeni, Cornelia, Pan, Jie, Leung, Gabriella, Lara-Corrales, Irene, Murchie, Ryan, Cutz, Ernest, Laxer, Ronald M., Upton, Julia, Roifman, Chaim M., Yeung, Rae S. M., Brumell, John H, Muise, Aleixo M
Publicado 2017

Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII Deficiency

por Ferrua, Francesca, Bortolomai, Ileana, Fontana, Elena, Di Silvestre, Dario, Rigoni, Rosita, Marcovecchio, Genni Enza, Draghici, Elena, Brambilla, Francesca, Castiello, Maria Carmina, Delfanti, Gloria, Moshous, Despina, Picard, Capucine, Taghon, Tom, Bordon, Victoria, Schulz, Ansgar S., Schuetz, Catharina, Giliani, Silvia, Soresina, Annarosa, Gennery, Andrew R., Signa, Sara, Dávila Saldaña, Blachy J., Delmonte, Ottavia M., Notarangelo, Luigi D., Roifman, Chaim M., Poliani, Pietro Luigi, Uva, Paolo, Mauri, Pier Luigi, Villa, Anna, Bosticardo, Marita
Publicado 2021

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

por Le Voyer, Tom, Parent, Audrey V., Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, Zhang, Peng, Bizien, Lucy, Hancioglu, Gonca, Ghillani-Dalbin, Pascale, Charuel, Jean-Luc, Philippot, Quentin, Gueye, Mame Sokhna, Maglorius Renkilaraj, Majistor Raj Luxman, Ogishi, Masato, Soudée, Camille, Migaud, Mélanie, Rozenberg, Flore, Momenilandi, Mana, Riller, Quentin, Imberti, Luisa, Delmonte, Ottavia M., Müller, Gabriele, Keller, Baerbel, Orrego, Julio, Franco Gallego, William Alexander, Rubin, Tamar, Emiroglu, Melike, Parvaneh, Nima, Eriksson, Daniel, Aranda-Guillen, Maribel, Berrios, David I., Vong, Linda, Katelaris, Constance H., Mustillo, Peter, Raedler, Johannes, Bohlen, Jonathan, Bengi Celik, Jale, Astudillo, Camila, Winter, Sarah, McLean, Catriona, Guffroy, Aurélien, DeRisi, Joseph L., Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey B., Holland, Steve M., Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte A., Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini S., Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M. Cecilia, Slatter, Mary A., Palterer, Boaz, Keller, Michael D., Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria Elena, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher C., Gray, Paul E., Belot, Alexandre, Kuehn, Hye Sun, Rosenzweig, Sergio D., Miyara, Makoto, Licciardi, Francesco, Servettaz, Amélie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Grégoire, Sarrot-Reynauld, Françoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frédéric, Tangye, Stuart G., Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa L., Trouillet Assant, Sophie, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim M., Landegren, Nils, Notarangelo, Luigi D., Anderson, Mark S., Casanova, Jean-Laurent, Puel, Anne
Publicado 2023

Canadian Society of Allergy and Clinical Immunology annual scientific meeting 2016

por Alsayegh, Mohammad A., Alshamali, Hanan, Khadada, Mousa, Ciccolini, Amanda, Ellis, Anne K., Quint, Diana, Powley, William, Lee, Laurie, Fiteih, Yahya, Baksh, Shairaz, Vliagoftis, Harissios, Gerega, Sebastien K., Millson, Brad, Charland, Katia, Barakat, Stephane, Sun, Xichun, Jimenez, Ricardo, Waserman, Susan, FitzGerald, Mark J., Hébert, Jacques, Cognet-Sicé, Josiane, Renahan, Kevin E., Huq, Saiful, Chooniedass, Rishma, Sawyer, Scott, Pasterkamp, Hans, Becker, Allan, Smith, Steven G., Zhang, Shiyuan, Jayasundara, Kavisha, Tacon, Claire, Simidchiev, Alex, Nadeau, Gilbert, Gunsoy, Necdet, Mullerova, Hana, Albers, Frank, Kim, Young Woong, Shannon, Casey P., Singh, Amrit, Neighbour, Helen, Larché, Mark, Tebbutt, Scott J., Klopp, Annika, Vehling, Lorena, Becker, Allan B., Subbarao, Padmaja, Mandhane, Piushkumar J., Turvey, Stuart E., Sears, Malcolm R., Azad, Meghan B., Loewen, Keely, Monchka, Barret, Mahmud, Salaheddin M., Jong, Geert ‘t, Longo, Cristina, Bartlett, Gillian, Ducharme, Francine M., Schuster, Tibor, MacGibbon, Brenda, Barnett, Tracie, North, Michelle L., Brook, Jeff, Lee, Elizabeth, Omana, Vanessa, Thiele, Jenny, Steacy, Lisa M., Evans, Greg, Diamond, Miriam, Sussman, Gordon L., Amistani, Yann, Abiteboul, Kathy, Tenn, Mark W., Yang, ChenXi, Carlsten, Christopher, Conway, Edward M., Mack, Douglas, Othman, Yasmin, Barber, Colin M., Kalicinsky, Chrystyna, Burke, Andrea E., Messieh, Mary, Nair, Parameswaran, Che, Chun T., Douglas, Lindsay, Liem, Joel, Duan, Lucy, Miller, Charlotte, Dupuis, Pascale, Connors, Lori A., Fein, Michael N., Shuster, Joseph, Hadi, Hani, Polk, Brooke, Raje, Nikita, Labrosse, Roxane, Bégin, Philippe, Paradis, Louis, Roches, Anne Des, Lacombe-Barrios, Jonathan, Mishra, Sanju, Lacuesta, Gina, Chiasson, Meredith, Haroon, Babar, Robertson, Kara, Issekutz, Thomas, Leddin, Desmond, Couban, Stephen, Connors, Lori, Roos, Adrienne, Kanani, Amin, Chan, Edmond S., Schellenberg, Robert, Rosenfield, Lana, Cvetkovic, Anna, Woodward, Kevin, Quirt, Jaclyn, Watson, Wade T. A., Castilho, Edson, Sullivan, Jennifer A., Temple, Beverley, Martin, Donna, Cook, Victoria E., Mills, Christopher, Portales-Casamar, Elodie, Fu, Lisa W., Ho, Alexander, Zaltzman, Jeffrey, Chen, Lucy, Vadas, Peter, Gabrielli, Sofianne, Clarke, Ann, Eisman, Harley, Morris, Judy, Joseph, Lawrence, LaVieille, Sebastien, Ben-Shoshan, Moshe, Graham, François, Barnes, Charles, Portnoy, Jay, Stagg, Vincent, Simons, Elinor, Lefebvre, Diana, Dai, David, Mandhane, Piushkumar, Sears, Malcolm, Tam, Herman, Simons, F. Estelle R., Alotaibi, Dhaifallah, Dawod, Bassel, Tunis, Matthew C., Marshall, Jean, Desjardins, Marylin, Béland, Marianne, Lejtenyi, Duncan, Drolet, Jean-Phillipe, Lemire, Martine, Tsoukas, Christos, Noya, Francisco J.D., Alizadehfar, Reza, McCusker, Christine T., Mazer, Bruce D., Maestre-Batlle, Danay, Gunawan, Evelyn, Rider, Christopher F., Bølling, Anette K., Pena, Olga M., Suez, Daniel, Melamed, Isaac, Hussain, Iftikhar, Stein, Mark, Gupta, Sudhir, Paris, Kenneth, Fritsch, Sandor, Bourgeois, Christelle, Leibl, Heinz, McCoy, Barbara, Noel, Martin, Yel, Leman, Scott, Ori, Reid, Brenda, Atkinson, Adelle, Kim, Vy Hong-Diep, Roifman, Chaim M., Grunebaum, Eyal, AlSelahi, Eiman, Aleman, Fernando, Oberle, Amber, Trus, Mike, Sussman, Gordon, Kanani, Amin S., Chambenoi, Olivier, Chiva-Razavi, Sima, Grodecki, Savannah, Joshi, Nikhil, Menikefs, Peter, Holt, David, Pun, Teresa, Tworek, Damian, Hanna, Raphael, Heroux, Delia, Rosenberg, Elli, Stiemsma, Leah, Turvey, Stuart, Denburg, Judah, Mill, Christopher, Teoh, Timothy, Zimmer, Preeti, Avinashi, Vishal, Paina, Mihaela, Darwish Hassan, Ahmed A., Oliveria, John Paul, Olesovsky, Chris, Gauvreau, Gail, Pedder, Linda, Keith, Paul K., Plunkett, Greg, Bolner, Michelle, Pourshahnazari, Persia, Stark, Donald, Vostretsova, Kateryna, Moses, Andrew, Wakeman, Andrew, Singer, Alexander, Gerstner, Thomas, Abrams, Elissa, Johnson, Sara F., Woodgate, Roberta L.
Publicado 2017