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1.  WAO International Scientific Conference (WISC 2016) Abstracts 
Bao, Jun | Wang, Yi-Hui | Liu, Quan-Hua | Bao, Yi-Xiao | Azouz, Nurit | Caldwell, Julie | Ray, Leanne | Rochman, Mark | Mingler, Melissa | Eilerman, Matthew | Wen, Ting | Myers, Jocelyn Biagini | Hershey, Gurjit Khurana | Kottyan, Leah | Martin, Lisa | Marc, Rothenberg | Gonzalez-Uribe, Victor | Del Rio-Chivardi, Jaime | Del Rio-Navarro, Blanca | Lou, Hongfei | Ma, Siyuan | Zhao, Yan | Cao, Feifei | He, Fei | Liu, Zhongyan | Wang, Chengshuo | Bachert, Claus | Zhang, Luo | Abrams, Elissa | Becker, Allan | Kandhare, Amit | Bodhankar, Subhash | Grossman, Nicole | Doros, Gheorghe | Laden, Francine | Fuhlbrigge, Anne | Wechsler, Michael | Pace, Wilson | Yawn, Barbara | Israel, Elliot | Lee, Junehyuk | Adler, Frederick | Kim, Peter | Huang, Yung Feng | Chen, Ying Yao | Pan, Chiun Yen | Lee, Herng Sheng | Khalemsky, Michael | Schwartz, David G. | Kolkhir, Pavel | Pogorelov, Dmitry | Kochergin, Nikolay | Komarow, Hirsh | Young, Michael | Eisch, Robin | Scott, Linda | Metcalfe, Dean | Singer, Alexander | Wakeman, Andrew | Gerstner, Thomas | Abrams, Elissa | Song, Woo-Jung | Shim, Ji-Su | Won, Ha-Kyeong | Kang, Sung-Yoon | Sohn, Kyoung-Hee | Kim, Byung-Keun | Jo, Eun-Jung | Kim, Min-Hye | Kim, Sang-Heon | Park, Heung-Woo | Kim, Sun-Sin | Chang, Yoon-Seok | Morice, Alyn H. | Lee, Byung-Jae | Cho, Sang-Heon | Min, Kyung-Up | Boscolo, Maria Assunta | Brivio, Giulio | Bosisio, Sergio | Manzocchi, Nicoletta | Pulixi, Edoardo | Grignani, Giulia | D’Andrea, Eloisia | Ricci, Massimo | Passini, Elena | Italia, Maurizio | Urrutia-Pereira, Marilyn | Fagundes, Stefani | Oliano, Vinicius Jardim | Solé, Dirceu | Benzaquen, Sadia | Aragaki, Alejandro | Balestra, Ricardo | Harden, Dawn | Caudell-Stamper, Danielle | Glady, Gilbert | Holbreich, Mark | Lyakhovska, Nataliya | Kaidashev, Igor | Bystron, Jaromir | Hutyrova, Beata | Balakirski, Galina | Vanstreels, Luk | Wurpts, Gerda | Merk, Hans F. | Baron, Jens Malte | Plange, Johanna | Rihs, Hans-Peter | Raulf, Monika | Roeseler, Stefani | Tolcachier, Alberto | Chamorro, Armando | Otero, Ruth | Brooks, Joel | Hess, Michael | Benz, Jared | MacDonald, Joseph | Brooks, Joel | Benz, Jared | Chatha, Usma | Lent, Dale | Köse, Şükran | Tatar, Bengü Gireniz | Akkoçlu, Gülgün | Çukurova, İbrahim | Ödemiş, İlker | Toker, Ayşin Kılınç | Hasssan, Abdullahi | Gobir, Abdulrazaq Abdullahi | Kim, Cheol-Woo | Choi, Young Hwa | Lee, Jeong Hye | Cho, Rae Jeong | Nam, Yu Ran | Nam, Joo Hyun | Kim, Woo Kyung | Filipovic, Ivana | Zivkovic, Zorica | Filipovic, Djordje | Shik, Dana | Smith, Andrew | Hsi, Wang Yui | Friedman, Stuart | Gizaw, Yonatan | Bakhda, Rima | Mohammed, Kumail | Wasserman, Richard | Hague, Angela | Pence, Deanna | Rolen, Joanna | Sugerman, Robert | Silvers, Stacy | Kamili, Qurat | Knauer, Nadezhda | Zazernyi, Alexandr | Blinova, Elena | Demina, Daria | Kozlov, Vladimir | Agrawal, Komal | Kale, Sagar | Arora, Naveen | Vasilkova, Volha | Mokhort, Tatiana | Silvers, William | Eisenberg, Rachel | Mehta, Rushita | Rubinstein, Arye | Aston, Antony | Turner, Paul | Ruiz-Garcia, Monica | Boyle, Robert | Brown, Simon | Schejter, Yael Dinur | Ovadia, Adi | Kim, Vy | Reid, Brenda | Roifman, Chaim | Rosenfield, Lana | Avilla, Ernie | Harada, Laurie | Allen, Marilyn | Waserman, Susan | Yoon, Ho Joo | Koo, Gun Woo | Chang, Suk-Il | Yoon, Hye-Ran | Park, Dong Won | Park, Tai Sun | Moon, Ji-Yong | Kim, Sang-Heon | Kim, Tae Hyung | Sohn, Jang Won | Shin, Dong Ho | Jorjoliani, Tsici | Jorjoliani, Lia | Adamia, Nino | katamadze, Nona | Ramachandra, Deepika | Jorjoliani, Liana | Karseladze, Rusudan | Saginadze, Lali | Adamia, Nino | Chkuaseli, Natalia | Dolgova, Anna | Stukolova, Olga | Sudina, Anna | Cherkashina, Anna | Shipulin, German | Brivio, Giulio | Boscolo, Maria Assunta | Rosenthal, Richard | Howe, Harvey | Knause, Paul | Greemberg, Rony | De Bruycker, Jean Jacques | Fernandez, Isabel | Le Deist, Françoise | Haddad, Elie | Rha, Yeong Ho | Lee, Kyung Suk | Choi, Sun Hee | Tam, Herman | Simons, Estelle | Simons, Elinor | Golebiowska-Wawrzyniak, Maria | Markiewicz, Katarzyna | Faitelson, Yoram | Stein, Miguel | Mandelberg, Avigdor | Dalal, Ilan | Levin, Michael | Hobane, Lelani | Basera, Wisdom | Botha, Maresa | Gray, Claudia | Zar, Heather | Kjaeva, Biserka Jovkovska | Arsovski, Zoran | Grivcheva-Panovska, Vesna | Odebode, Adeyinka | Adekunle, Adedotun | Adeonipekun, Peter | Farombi, Ebenezer | Camacho-Ordoñez, Nadezhda | Martinez-Vázquez, Alejandrina Josefina | García-Cruz, María de la Luz H. | Tan, Qi | Min, Rui | Dai, Guan-qun | Xie, Wei-Ping | Mao, Huang | Wang, Hong | Yadav, Rakesh | Singh, Sneha | Yadav, Divya | Khaleva, Ekaterina | Bahnson, Henry T. | Franz, Amber | Garvey, Lene Heise | Jay, Nicola | Haque, Rubaiyat | Fox, Adam | Lack, Gideon | du Toit, George | Radic, Snezana | Milenkovic, Branislava | Neskovic, Ana | Danojevic, Ljiljana | Nachshon, Liat | Goldberg, Michael | Levy, Michael | Katz, Yitzhak | Elizur, Arnon | Rosario, Cristine | Kasper, Juliana | Chong-Neto, Herbeto | Riedi, Carlos | Rosario, Nelson | Elizur, Arnon | Levy, Michael B. | Har-Even, Ronly | Nachshon, Liat | Carmel, Mor | Goldberg, Michael R. | Kherkheulidze, Maia | Kavlashvili, Nani | Kandelaki, Eka | Adamai, Nino | Kherkheulidze, Maia | Jorjoliani, Lia | Ubiria, Irma | Burke, Andrea | Avilla, Ernie | Kastner, Monika | Waserman, Susan | Zheleva, Denica | Darlenski, Razvigor | Bozinakis, Konstantinos | Kriebardis, Anastasios | Styliara, Sofia | Karastathi, Aikaterini | Farmakas, Nikolaos | Ribeiro, Maria Luiza Kraft Kohler | Barcellos, Ana Carolina | Silva, Hannah Gabriele Ferreira | Carletto, Luís Henrique Mattei | Bet, Marcela Carolina | Rossetto, Nathalia Zorze | Rosario, Nelson Augusto | Chong-Neto, Herberto Jose | Valença, Fernanda | Novaes, Marina | Gomes, Mariana | Seifert, Carla | Neto, Alfredo | Loyola, Flavia | Rios, José | Silva, Tatiana | Neves, Aline | Novaes, Marina | Valença, Fernanda | Gomes, Mariana | Neto, Alfredo | Loyola, Flavia | Rios, José | Abadoglu, Oznur | Gemicioglu, Bilun | Bayram, Hasan | Cimrin, Arif | Akyildiz, Levent | Cilli, Aykut | Gunen, Hakan | Ozlu, Tevfik | Suerdem, Mecit | Uzaslan, Esra | Misirligil, Zeynep | Milenkovic, Branislava | Radic, Snezana | Ristic-Stojanovic, Snezana | Milicevic, A. | Milenkovic, A. | Cvejic, Jelena | Jankovic, Jelena | Dimic-Janjic, Sanja | Djurdjevic, Natasa | Barzylovych, Vladyslava | Umanets, Tetiana | Barzylovych, Anastasia | Winkler, Karyn | Margarinos, Jessica | Martin, Dylan | Nowakowski, Maja | Joks, Rauno | Stein, Miguel | Zangen, Tsili | Bernadsky, Olga | Boaz, Mona | Hermann, Gratiana | Faitelson, Yoram | Dalal, Ilan | Aviv, Rachel | Kuperboim, Olga | Ramichanov, Larisa | Broide, Efrat | Shamir, Raanan | Zevit, Noam | Shaoul, Ron | Fich, Alex | Levine, Arie | Ovadia, Adi | Schejter, Yael Dinur | Roifman, Chaim | Melamed, Isaac | Gangwar, Roopesh Singh | Minai-Fleminger, Yael | Seaf, Mansour | Gutgold, Amichai | Shikotra, Aarti | Chauhan, Anoop | Holgate, Stephen | Bradding, Peter | Howarth, Peter | Eliashar, Ron | Berkman, Neville | Levi-Schaffer, Francesca | Woo, Sung-il | Celik, Betul | Bulut, Tangul | Yalcin, Arzu Didem | Celik, Betul | Yalcin, Arzu Didem | Bulut, Tangul | Caldas, Luiz Querino | Confino-Cohen, Ronit | Rosman, Yossi | Goldberg, Arnon | Breuer, Oded | Singh, Roopesh | Seaf, Mansour | Barhoum, Ahlam | Kerem, Eitan | Levi-Schaffer, Francesca | Slavyanskaya, Tatiana | Sepiashvili, Revaz | Blinova, Elena A. | Pashkina, Ekaterina A. | Leonova, Marina I. | Nepomnyaschikh, Vera M. | Demina, Darya V. | Kozlov, Vladimir A. | Shamri, Revital | Young, Kristen M. | Weller, Peter F. | de Paula Vieira, Rodolfo | Oliveira-Junior, Manoel Carneiro | Damasceno-Rodrigues, Nilsa Regina | Arantes-Costa, Fernanda Magalhães | Martins, Milton Arruda | Oliveira, Ana Paula Ligeiro | Bernard, Alfred | Sardella, Antonia | Voisin, Catherine | Royce, Simon | Philpott, Hamish | Nandurkar, Sanjay | Thien, Francis | Gibson, Peter | Bianchini, Rodolfo | Roth-Walter, Franziska | Ohradanova-Repic, Anna | Hofstetter, Gerlinde | Herrmann, Ina | Carvalho, Maria Isabel | Hufnagl, Karin | Bajna, Erika | Roth, Georg | Stockinger, Hannes | Jensen-Jarolim, Erika | Almog, Meital | Kessel, Aharon | Apov, Larisa | Salguero, Carlos Sanchez | Chacon, Alvaro Sanchez | Nazarov, Abbos | Ergashev, Shaxbos | Nesterova, Irina | Kovaleva, Svetlana | Chudilova, Galina | Lomtatidze, Ludmila | De Schryver, Sarah | Dery, Alizee | Clarke, Ann | Nadeau, Kari | Harada, Laurie | Weatherall, Kimberly | Greenwood, Celia | Daley, Denise | Asai, Yuka | Ben-Shoshan, Moshe | Balmasova, Irina | Malova, Elena | Hufnagl, Karin | Wagner, Stefanie | Pacios, Luis F. | Wallner, Michael | Wiederstein, Markus | Hofstetter, Gerlinde | Roth-Walter, Franziska | Jensen-Jarolim, Erika | Tevs, Anna E. | Pashkina, Ekaterina A. | Leonova, Marina I. | Nepomnyaschikh, Vera M. | Demina, Darya V. | Kozlov, Vladimir A. | Blinova, Elena A. | Tataurshchikova, Nataly | Sangidorj, Baigalmaa | Ronzhina, Anna | Sepiashvili, Revaz | Slavyanskaya, Tatiana | Chikhladze, Manana | Wirz, Oliver F. | van de Veen, Willem | Mirer, David | Morita, Hideaki | Altunbulakli, Can | Johnston, Sebastian L. | Glanville, Nicholas | Papadopoulos, Nikolaos G. | Akdis, Cezmi A. | Akdis, Mübeccel | Reshef, Avner | Riedl, Marc | Panovska, Vesna Grivcheva | Moldovan, Dumitru | Baker, James | Yang, William H. | Andrejevic, Sladjana | Lockey, Richard F. | Hakl, Roman | Kivity, Shmuel | Bellizzi, Luca | Harper, Joseph R. | Relan, Anurag | Cicardi, Marco
doi:10.1186/s40413-017-0155-2
PMCID: PMC5499101
2.  Canadian Society of Allergy and Clinical Immunology annual scientific meeting 2016 
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.
doi:10.1186/s13223-017-0192-y
PMCID: PMC5390240
3.  Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing 
Nature Communications  2015;6:8718.
Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of Roifman Syndrome patients to reveal compound heterozygous rare variants that disrupt highly conserved positions of the RNU4ATAC small nuclear RNA gene, a minor spliceosome component that is essential for minor intron splicing. Targeted sequencing confirms allele segregation in six cases from four unrelated families. RNU4ATAC rare variants have been recently reported to cause microcephalic osteodysplastic primordial dwarfism, type I (MOPD1), whose phenotype is distinct from Roifman Syndrome. Strikingly, all six of the Roifman Syndrome cases have one variant that overlaps MOPD1-implicated structural elements, while the other variant overlaps a highly conserved structural element not previously implicated in disease. RNA-seq analysis confirms extensive and specific defects of minor intron splicing. Available allele frequency data suggest that recessive genetic disorders caused by RNU4ATAC rare variants may be more prevalent than previously reported.
Roifman Syndrome is a rare disorder whose disease manifestations include growth retardation, spondyloepiphyseal dysplasia and immunodeficiency. Here, the authors use whole-genome sequencing to discover that rare compound heterozygous variants disrupting the small nuclear RNA gene RNU4ATAC cause Roifman Syndrome.
doi:10.1038/ncomms9718
PMCID: PMC4667643  PMID: 26522830
4.  Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells 
The Journal of Experimental Medicine  2008;205(7):1543-1550.
The cytokines controlling the development of human interleukin (IL) 17–producing T helper cells in vitro have been difficult to identify. We addressed the question of the development of human IL-17–producing T helper cells in vivo by quantifying the production and secretion of IL-17 by fresh T cells ex vivo, and by T cell blasts expanded in vitro from patients with particular genetic traits affecting transforming growth factor (TGF) β, IL-1, IL-6, or IL-23 responses. Activating mutations in TGFB1, TGFBR1, and TGFBR2 (Camurati-Engelmann disease and Marfan-like syndromes) and loss-of-function mutations in IRAK4 and MYD88 (Mendelian predisposition to pyogenic bacterial infections) had no detectable impact. In contrast, dominant-negative mutations in STAT3 (autosomal-dominant hyperimmunoglobulin E syndrome) and, to a lesser extent, null mutations in IL12B and IL12RB1 (Mendelian susceptibility to mycobacterial diseases) impaired the development of IL-17–producing T cells. These data suggest that IL-12Rβ1– and STAT-3–dependent signals play a key role in the differentiation and/or expansion of human IL-17–producing T cell populations in vivo.
doi:10.1084/jem.20080321
PMCID: PMC2442631  PMID: 18591412

Results 1-4 (4)