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

by Amarilla B. Mandola, Amarilla B. Mandola, Brenda Reid, Brenda Reid, Raga Sirror, Rae Brager, Peter Dent, Pranesh Chakroborty, Dennis E. Bulman, Chaim M. Roifman, Chaim M. Roifman
Published 2019-12-01

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

by Ori Scott, Kyle Lindsay, Steven Erwood, Antonio Mollica, Chaim M. Roifman, Ronald D. Cohn, Evgueni A. Ivakine
Published 2021-05-01

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

by Yael Dinur Schejter, Adi Ovadia, Roumiana Alexandrova, Bhooma Thiruvahindrapuram, Sergio L. Pereira, David E. Manson, Ajoy Vincent, Daniele Merico, Chaim M. Roifman
Published 2017-07-01

Cerebellar abnormalities in purine nucleoside phosphorylase deficient mice

by Alireza Mansouri, Weixian Min, Christina J. Cole, Sheena A. Josselyn, Jeffrey Theodore Henderson, Matthijs van Eede, R. Mark Henkelman, Cameron Ackerley, Eyal Grunebaum, Chaim M. Roifman
Published 2012-08-01

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

by Ivan K. Chinn, Ivan K. Chinn, Ivan K. Chinn, Robert P. Sanders, Asbjørg Stray-Pedersen, Asbjørg Stray-Pedersen, Asbjørg Stray-Pedersen, Zeynep H. Coban-Akdemir, Zeynep H. Coban-Akdemir, Vy Hong-Diep Kim, Harjit Dadi, Harjit Dadi, Chaim M. Roifman, Chaim M. Roifman, Troy Quigg, James R. Lupski, James R. Lupski, James R. Lupski, James R. Lupski, Jordan S. Orange, Jordan S. Orange, Jordan S. Orange, I. Celine Hanson, I. Celine Hanson
Published 2017-05-01

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

by Abdul Elkadri, Cornelia Thoeni, Sophie J. Deharvengt, Ryan Murchie, Conghui Guo, James D. Stavropoulos, Christian R. Marshall, Paul Wales, Robert H.J. Bandsma, Ernest Cutz, Chaim M. Roifman, David Chitayat, Yaron Avitzur, Radu V. Stan, Aleixo M. Muise
Published 2015-07-01

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

by Walter H. A. Kahr, Fred G. Pluthero, Abdul Elkadri, Neil Warner, Marko Drobac, Chang Hua Chen, Richard W. Lo, Ling Li, Ren Li, Qi Li, Cornelia Thoeni, Jie Pan, Gabriella Leung, Irene Lara-Corrales, Ryan Murchie, Ernest Cutz, Ronald M. Laxer, Julia Upton, Chaim M. Roifman, Rae S. M. Yeung, John H Brumell, Aleixo M Muise
Published 2017-04-01

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

by Waleed eAl-Herz, Waleed eAl-Herz, Aziz eBousfiha, jean-laurent eCasanova, jean-laurent eCasanova, Helen eChapel, Mary Ellen eConley, Mary Ellen eConley, Charlotte eCunningham-Rundles, Amos eEtzioni, Alain eFischer, Jose Luis Franco, Raif eGeha, Lennart eHammarstrom, Shigeaki eNonoyama, Luigi Daniele Notarangelo, Luigi Daniele Notarangelo, Hans Dieter Ochs, Jennifer ePuck, Chaim M Roifman, Reinhard eSeger, Mimi eTang, Mimi eTang, Mimi eTang
Published 2011-11-01

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

by Francesca Ferrua, Francesca Ferrua, Francesca Ferrua, Ileana Bortolomai, Elena Fontana, Elena Fontana, Dario Di Silvestre, Rosita Rigoni, Rosita Rigoni, Genni Enza Marcovecchio, Elena Draghici, Francesca Brambilla, Maria Carmina Castiello, Maria Carmina Castiello, Gloria Delfanti, Despina Moshous, Despina Moshous, Capucine Picard, Capucine Picard, Capucine Picard, Tom Taghon, Victoria Bordon, Ansgar S. Schulz, Catharina Schuetz, Catharina Schuetz, Silvia Giliani, Annarosa Soresina, Andrew R. Gennery, Andrew R. Gennery, Sara Signa, Sara Signa, Blachy J. Dávila Saldaña, Ottavia M. Delmonte, Luigi D. Notarangelo, Chaim M. Roifman, Pietro Luigi Poliani, Paolo Uva, Pier Luigi Mauri, Anna Villa, Anna Villa, Marita Bosticardo, Marita Bosticardo
Published 2021-06-01

Canadian Society of Allergy and Clinical Immunology annual scientific meeting 2016

by Mohammad A. Alsayegh, Hanan Alshamali, Mousa Khadada, Amanda Ciccolini, Anne K. Ellis, Diana Quint, William Powley, Laurie Lee, Yahya Fiteih, Shairaz Baksh, Harissios Vliagoftis, Sebastien K. Gerega, Brad Millson, Katia Charland, Stephane Barakat, Xichun Sun, Ricardo Jimenez, Susan Waserman, Mark J. FitzGerald, Jacques Hébert, Josiane Cognet-Sicé, Kevin E. Renahan, Saiful Huq, Rishma Chooniedass, Scott Sawyer, Hans Pasterkamp, Allan Becker, Steven G. Smith, Shiyuan Zhang, Kavisha Jayasundara, Claire Tacon, Alex Simidchiev, Gilbert Nadeau, Necdet Gunsoy, Hana Mullerova, Frank Albers, Young Woong Kim, Casey P. Shannon, Amrit Singh, Helen Neighbour, Mark Larché, Scott J. Tebbutt, Annika Klopp, Lorena Vehling, Allan B. Becker, Padmaja Subbarao, Piushkumar J. Mandhane, Stuart E. Turvey, Malcolm R. Sears, Meghan B. Azad, and the Canadian Healthy Infant Longitudinal Development Study Investigators, Keely Loewen, Barret Monchka, Salaheddin M. Mahmud, Geert ‘t Jong, Cristina Longo, Gillian Bartlett, Francine M. Ducharme, Tibor Schuster, Brenda MacGibbon, Tracie Barnett, Michelle L. North, Jeff Brook, Elizabeth Lee, Vanessa Omana, Jenny Thiele, Lisa M. Steacy, Greg Evans, Miriam Diamond, Gordon L. Sussman, Yann Amistani, Kathy Abiteboul, Mark W. Tenn, ChenXi Yang, Christopher Carlsten, Edward M. Conway, Douglas Mack, Yasmin Othman, Colin M. Barber, Chrystyna Kalicinsky, Andrea E. Burke, Mary Messieh, Parameswaran Nair, Chun T. Che, Lindsay Douglas, Joel Liem, Lucy Duan, Charlotte Miller, Pascale Dupuis, Lori A. Connors, Michael N. Fein, Joseph Shuster, Hani Hadi, Brooke Polk, Nikita Raje, Roxane Labrosse, Philippe Bégin, Louis Paradis, Anne Des Roches, Jonathan Lacombe-Barrios, Sanju Mishra, Gina Lacuesta, Meredith Chiasson, Babar Haroon, Kara Robertson, Thomas Issekutz, Desmond Leddin, Stephen Couban, Lori Connors, Adrienne Roos, Amin Kanani, Edmond S. Chan, Robert Schellenberg, Lana Rosenfield, Anna Cvetkovic, Kevin Woodward, Jaclyn Quirt, Wade T. A. Watson, Edson Castilho, Jennifer A. Sullivan, Beverley Temple, Donna Martin, Victoria E. Cook, Christopher Mills, Elodie Portales-Casamar, Lisa W. Fu, Alexander Ho, Jeffrey Zaltzman, Lucy Chen, Peter Vadas, Sofianne Gabrielli, Ann Clarke, Harley Eisman, Judy Morris, Lawrence Joseph, Sebastien LaVieille, Moshe Ben-Shoshan, François Graham, Charles Barnes, Jay Portnoy, Vincent Stagg, Elinor Simons, Diana Lefebvre, David Dai, Piushkumar Mandhane, Malcolm Sears, Herman Tam, F. Estelle R. Simons, Dhaifallah Alotaibi, Bassel Dawod, Matthew C. Tunis, Jean Marshall, Marylin Desjardins, Marianne Béland, Duncan Lejtenyi, Jean-Phillipe Drolet, Martine Lemire, Christos Tsoukas, Francisco J.D. Noya, Reza Alizadehfar, Christine T. McCusker, Bruce D. Mazer, Danay Maestre-Batlle, Evelyn Gunawan, Christopher F. Rider, Anette K. Bølling, Olga M. Pena, Daniel Suez, Isaac Melamed, Iftikhar Hussain, Mark Stein, Sudhir Gupta, Kenneth Paris, Sandor Fritsch, Christelle Bourgeois, Heinz Leibl, Barbara McCoy, Martin Noel, Leman Yel, Ori Scott, Brenda Reid, Adelle Atkinson, Vy Hong-Diep Kim, Chaim M. Roifman, Eyal Grunebaum, Eiman AlSelahi, Fernando Aleman, Amber Oberle, Mike Trus, Gordon Sussman, Amin S. Kanani, Olivier Chambenoi, Sima Chiva-Razavi, Savannah Grodecki, Nikhil Joshi, Peter Menikefs, David Holt, Teresa Pun, Damian Tworek, Raphael Hanna, Delia Heroux, Elli Rosenberg, Leah Stiemsma, Stuart Turvey, Judah Denburg, Christopher Mill, Timothy Teoh, Preeti Zimmer, Vishal Avinashi, Mihaela Paina, Ahmed A. Darwish Hassan, John Paul Oliveria, Chris Olesovsky, Gail Gauvreau, Linda Pedder, Paul K. Keith, Greg Plunkett, Michelle Bolner, Persia Pourshahnazari, Donald Stark, Kateryna Vostretsova, Andrew Moses, Andrew Wakeman, Alexander Singer, Thomas Gerstner, Elissa Abrams, Sara F. Johnson, Roberta L. Woodgate
Published 2017-04-01