Human immune disorder arising from mutation of the α chain of the interleukin-2 receptor

por Sharfe, Nigel, Dadi, Harjit K., Shahar, Michal, Roifman, Chaim M.
Publicado 1997

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 en NPJ Genom Med (2018)

Newborn screening for severe combined immunodeficiency: a primer for clinicians

por Biggs, Catherine M., Haddad, Elie, Issekutz, Thomas B., Roifman, Chaim M., Turvey, Stuart E.
Publicado en CMAJ (2017)

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 en NPJ Genom Med (2021)

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome

por Poliani, Pietro Luigi, Facchetti, Fabio, Ravanini, Maria, Gennery, Andrew Richard, Villa, Anna, Roifman, Chaim M., Notarangelo, Luigi D.
Publicado 2009

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 en Front Immunol (2019)

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 en NPJ Genom Med (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

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 en Front Immunol (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 en Nucleic Acids Res (2021)

Hematopoietic Stem Cell Transplantation for CD3δ deficiency

por Marcus, Nufar, Takada, Hidetoshi, Law, Jason, Cowan, Morton J, Gil, Juana, Regueiro, Jose, Lopez de Sabando, Diego Plaza, Lopez-Granados, Eduardo, Dalal, Jignesh, Friedrich, Wilhelm, Manfred, Hoenig, Hanson, I. Celine, Grunebaum, Eyal, Shearer, William T, Roifman, Chaim M.
Publicado en J Allergy Clin Immunol (2011)

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 en Cell Mol Gastroenterol Hepatol (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 en RNA (2019)

IL-10R Polymorphisms are Associated with Very Early-Onset Ulcerative Colitis

por Moran, Christopher J, Walters, Thomas D, Guo, Cong-Hui, Kugathasan, Subra, Klein, Christoph, Turner, Dan, Wolters, Victorien M, Bandsma, Robert H, Mouzaki, Marialena, Langer, Jacob C, Cutz, Ernest, Benseler, Susanne M, Roifman, Chaim M, Silverberg, Mark S, Griffiths, Anne M, Snapper, Scott B, Muise, Aleixo M
Publicado 2013

Improving cellular therapy for primary immune deficiency diseases: Recognition, diagnosis, and management

por Griffith, Linda M., Cowan, Morton J., Notarangelo, Luigi D., Puck, Jennifer M., Buckley, Rebecca H., Candotti, Fabio, Conley, Mary Ellen, Fleisher, Thomas A., Gaspar, H. Bobby, Kohn, Donald B., Ochs, Hans D., O'Reilly, Richard J., Rizzo, J. Douglas, Roifman, Chaim M., Small, Trudy N., Shearer, William T.
Publicado 2009

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

Allogeneic Hematopoietic Cell Transplantation for Primary Immune Deficiency Diseases Current Status and Critical Needs

por Griffith, Linda M., Cowan, Morton J., Kohn, Donald B., Notarangelo, Luigi D., Puck, Jennifer M., Schultz, Kirk R., Buckley, Rebecca H., Eapen, Mary, Kamani, Naynesh R., O’Reilly, Richard J., Parkman, Robertson, Roifman, Chaim M., Sullivan, Kathleen E., Filipovich, Alexandra H., Fleisher, Thomas A., Shearer, William T.
Publicado 2008

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 en Nat Commun (2015)

A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside

por Bousfiha, Ahmed Aziz, Jeddane, Leïla, Ailal, Fatima, Al Herz, Waleed, Conley, Mary Ellen, Cunningham-Rundles, Charlotte, Etzioni, Amos, Fischer, Alain, Franco, Jose Luis, Geha, Raif S., Hammarström, Lennart, Nonoyama, Shigeaki, Ochs, Hans D., Roifman, Chaim M., Seger, Reinhard, Tang, Mimi L. K., Puck, Jennifer M., Chapel, Helen, Notarangelo, Luigi D., Casanova, Jean-Laurent
Publicado 2013