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1. Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia

Author

Abraham, Roshini S., Basu, Amrita, Heimall, Jennifer R., Dunn, Elizabeth, Yip, Alison, Kapadia, Malika, Kapoor, Neena, Satter, Lisa Forbes, Buckley, Rebecca, O'Reilly, Richard, Cuvelier, Geoffrey D.E., Chandra, Sharat, Bednarski, Jeffrey, Chaudhury, Sonali, Moore, Theodore B., Haines, Hilary, Dávila Saldaña, Blachy J., Chellapandian, Deepakbabu, Rayes, Ahmad, Chen, Karin, Caywood, Emi, Chandrakasan, Shanmuganathan, Lugt, Mark Thomas Vander, Ebens, Christen, Teira, Pierre, Shereck, Evan, Miller, Holly, Aquino, Victor, Eissa, Hesham, Yu, Lolie C., Gillio, Alfred, Madden, Lisa, Knutsen, Alan, Shah, Ami J., DeSantes, Kenneth, Barnum, Jessie, Broglie, Larisa, Joshi, Avni Y., Kleiner, Gary, Dara, Jasmeen, Prockop, Susan, Martinez, Caridad, Mousallem, Talal, Oved, Joseph, Burroughs, Lauri, Marsh, Rebecca, Torgerson, Troy R., Leiding, Jennifer W., Pai, Sung Yun, Kohn, Donald B., Pulsipher, Michael A., Griffith, Linda M., Notarangelo, Luigi D., Cowan, Morton J., Puck, Jennifer, Dvorak, Christopher C., and Haddad, Elie

Published
2024
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2. List Of Contributors

Author

Abraham, Roshini Sarah, primary, Afzali, Behdad, additional, Águeda, Ana, additional, Akin, Cem, additional, Albanesi, Cristina, additional, Antiochos, Brendan, additional, Aranow, Cynthia, additional, Atkinson, John P., additional, Aune, Thomas M., additional, Babu, Subash, additional, Balko, Justin, additional, Ballow, Mark, additional, Bean, Rachel, additional, Belavgeni, Alexia, additional, Berek, Claudia, additional, Beukelman, Timothy, additional, Beziat, Vivien, additional, Bimler, Lynn, additional, Andrew Bird, J., additional, Blutt, Sarah E., additional, Boguniewicz, Mark, additional, Boisson, Bertrand, additional, Boisson-Dupuis, Stéphanie, additional, Borzova, Elena, additional, Bottazzi, Maria, additional, Boyaka, Prosper N., additional, Bridges, John, additional, Browne, Sarah K., additional, Burks, A. Wesley, additional, Bustamante, Jacinta, additional, Casanova, Jean-Laurent, additional, Chan, Alice, additional, Chan, Edwin S.L., additional, Chatham, Walter Winn, additional, Chinen, Javier, additional, Christopher-Stine, Lisa, additional, Coates, Emily, additional, Cope, Andrew P., additional, Corry, David B., additional, Cosme, Joana, additional, Cron, Randy Q., additional, Dalakas, Marinos C., additional, Dann, Sara M., additional, Das, Satya, additional, Daughety, Molly M., additional, Diamond, Betty, additional, Dispenzieri, Angela, additional, Durham, Stephen R., additional, Eagar, Todd N., additional, Al-Hosni, Michelle, additional, Elitzur, Sarah, additional, Elmets, Craig A., additional, Erkan, Doruk, additional, Fleisher, Thomas A., additional, Fonacier, Luz, additional, Fontenot, Andrew P., additional, Fragoulis, George, additional, Francischetti, Ivo M.B., additional, Freiwald, Tilo, additional, Frew, Anthony J., additional, Fujihashi, Kohtaro, additional, Gadina, Massimo, additional, Gapin, Laurent, additional, Gatt, Moshe E., additional, Gershwin, M. Eric, additional, Gillespie, Susan L., additional, Gordon, Lynn K., additional, Goronzy, Jörg J., additional, Grattan, Clive E., additional, Greenspan, Neil S., additional, Gschwend, Anna, additional, Gustafson, Claire E., additional, Hackett, Tillie-Louise, additional, Hamilton, Robert G., additional, Happe, Myra, additional, Harrison, Leonard C., additional, Helbling, Arthur, additional, Heckmann, Emmaline, additional, Hogquist, Kristin, additional, Hohl, Tobias M., additional, Holland, Steven M., additional, Hotez, Peter J., additional, Houser, Katherine, additional, Huntingdon, Nicholas D., additional, Hwangpo, Tracy, additional, Izraeli, Shai, additional, Jaffe, Elaine S., additional, Jalkanen, Sirpa, additional, Java, Anuja, additional, Johnson, Douglas B., additional, Johnson, Tory, additional, Jordan, Michael B., additional, Joshi, Shyam R., additional, Jouanguy, Emmanuelle, additional, Kaminski, Henry J., additional, Kaufmann, Stefan H.E., additional, Khan, David A., additional, Kheradmand, Farrah, additional, Khokar, Dilawar Singh, additional, Khoury, Paneez, additional, Klein, Bruce S., additional, Klion, Amy D., additional, Kohn, Donald B., additional, Kono, Michihito, additional, Korngold, Robert, additional, Koulouri, Vasiliki, additional, Kuhns, Douglas B., additional, Kulkarni, Hrishikesh S., additional, Kuo, Caroline Y., additional, Kusner, Linda L., additional, Lahouti, Arash, additional, Lane, Laura C., additional, Laurence, Arian, additional, Lee, Joyce S., additional, Lee, S. Thera, additional, Leung, Donald Y.M., additional, Levy, Ofer, additional, Lewis, Dorothy E., additional, Li, Evan, additional, Libby, Peter, additional, Lichtman, Andrew H., additional, Linkermann, Andreas, additional, Lionakis, Michail S., additional, Liszewski, M. Kathryn, additional, Lockshin, Michael D., additional, Priel, Debra Long, additional, Lorenz, Adi Zoref, additional, Ludwig, Ralf J., additional, Luong, Amber, additional, Luqmani, Raashid Ahmed, additional, Mackay, Meggan, additional, Mahr, Alfred, additional, Malley, Tamir, additional, Mannon, Elinor C., additional, Mannon, Peter J., additional, Mannon, Roslyn B., additional, Manns, Michael P., additional, Maresso, Anthony, additional, Matson, Scott M., additional, Mavragani, Clio P., additional, Maynard, Craig L., additional, McDonald, Douglas, additional, Meylan, Françoise, additional, Miller, Stephen D., additional, Mitchell, Anna L., additional, Monos, Dimitri S., additional, Mueller, Scott N., additional, Mulders-Manders, Catharina M., additional, Munshi, Pashna N., additional, Murphy, Philip M., additional, Noel, Pierre, additional, Notarangelo, Luigi D., additional, Nunes-Santos, Cristiane J., additional, Nussbaum, Robert L., additional, Nutman, Thomas B., additional, Nutt, Stephen L., additional, O'Neill, Lorraine, additional, O'Shea, John J., additional, Ortel, Thomas L., additional, Pai, Sung-Yun, additional, Paul, Mary E., additional, Pearce, Simon, additional, Peterson, Erik J., additional, Pittaluga, Stefania, additional, Polverino, Francesca, additional, Puck, Jennifer M., additional, Puel, Anne, additional, Radbruch, Andreas, additional, Rajalingam, Raja, additional, Reece, Stephen T., additional, Reveille, John D., additional, Rich, Robert R., additional, Ridley, Lauren K., additional, Romeo, Andrew R., additional, Rooney, Cliona M., additional, Rosen, Antony, additional, Rosenzweig, Sergio, additional, Rouse, Barry T., additional, Rowley, Scott D., additional, Sahiner, Umit Murat, additional, Sakaguchi, Shimon, additional, Salinas, Whitney, additional, Salmi, Marko, additional, Satola, Sarah, additional, Schechter, Marcos, additional, Schmidt, Enno, additional, Schroeder, Harry W., additional, Schwartzberg, Pamela L., additional, Sciumè, Giuseppe, additional, Segal, Benjamin M., additional, Selmi, Carlo, additional, Sharabi, Amir, additional, Shimano, Kristin Ammon, additional, Sikorski, Patricia M., additional, Simon, Anna, additional, Smith, Gideon P., additional, Song, Joo Y., additional, Stephens, David S., additional, Stephens, Robin, additional, Sun, Michel M., additional, Beretta-Piccoli, Benedetta Terziroli, additional, Tonnus, Wulf, additional, Torgerson, Troy R., additional, Torres, Raul Martin, additional, Treat, Jennifer D., additional, Tsokos, George C., additional, Uzel, Gülbü, additional, Uzonna, Jude E., additional, van der Hilst, Jeroen C.H., additional, van der Meer, Jos W.M., additional, Varga, John, additional, Waldman, Meryl, additional, Weatherhead, Jill, additional, Weiser, Peter, additional, Weyand, Cornelia M., additional, Wigley, Fredrick M., additional, Wing, James B., additional, Wood, Kathryn J., additional, Wilde, Shyra, additional, Xu, Hui, additional, Yusuf, Nabiha, additional, Zerbe, Christa S., additional, Zhang, Qian, additional, Ben-Yehuda, Dina, additional, Zhang, Shen-Ying, additional, and Zieske, Arthur W., additional

Published
2023
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3. Dedication

Author

Rich, Robert R., primary, Fleisher, Thomas A., additional, Schroeder, Harry W., additional, Weyand, Cornelia M., additional, Corry, David B., additional, and Puck, Jennifer M., additional

Published
2023
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4. Preface to the Sixth Edition

Author

Rich, Robert R., primary, Fleisher, Thomas A., additional, Schroeder, Harry W., additional, Weyand, Cornelia M., additional, Corry, David B., additional, and Puck, Jennifer M., additional

Published
2023
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8. 154 Neurodevelopmental Outcomes (ND) in Patients with Severe Combined Immunodeficiency (SCID) Following Hematopoietic Cell Transplantation (HCT) in the Era of Newborn Screening. A PIDTC Study

Author

Shah, Ami, primary, Brumm, Virdette, additional, Kidd, Sharon, additional, Logan, Brent, additional, Chunara, Farheen, additional, Heimall, Jennifer, additional, Schofield, Hannah, additional, Sanchez, Lauren, additional, Bednarski, Jeffrey, additional, Chandra, Sharat, additional, Chellapandian, Deepak, additional, Ebens, Christine, additional, Lust, Hannah, additional, Kapoor, Neena, additional, Oved, Joseph, additional, Rayes, Ahmad, additional, Satter, Lisa, additional, Lugt, Mark Vander, additional, Wright, Nicola, additional, Burroughs, Lauri, additional, Griffith, Linda, additional, Notarangelo, Luigi, additional, Haddad, Elie, additional, Kohn, Donald, additional, Pai, Sung-yun, additional, Pulsipher, Michael, additional, Dvorak, Christopher, additional, and Puck, Jennifer, additional

Published
2024
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9. 45 Assessment of TREC-based NBS SCID reporting practices for harmonization of results and interpretation: a global survey

Author

Kistler, Isaac, primary, Gaviglio, Amy, additional, Webster, Dianne Rosemary, additional, Taylor, Jennifer, additional, Lawrence, Monica, additional, Pham-Huy, Anne, additional, Yu, Joyce, additional, Kobrynski, Lisa, additional, Heimall, Jennifer, additional, Puck, Jennifer, additional, Burg, Mirjam van der, additional, Hauck, Fabian, additional, and Abraham, Roshini, additional

Published
2024
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10. 106 Outcomes Following Hematopoietic Cell Transplant for CD3δ Severe Combined Immune Deficiency: a PIDTC Natural History Study

Author

Kalashnikova, Tatiana, primary, Cuvelier, Geoff, additional, Logan, Brent, additional, Grunebaum, Eyal, additional, Guilcher, Gregory, additional, Lewis, Victor, additional, McAuley, Grace, additional, Marwaha, Ashish, additional, Murguia-Favela, Luis, additional, Prince, Bradley, additional, Romero, Zulema, additional, Rubin, Tamar, additional, Suresh, Sneha, additional, Buckley, Rebecca, additional, Dvorak, Christopher, additional, Satter, Lisa, additional, Aquino, Victor, additional, Bunin, Nancy, additional, Joshi, Avni, additional, Prokop, Susan, additional, Heimall, Jennifer, additional, Haddad, Elie, additional, Leiding, Jennifer, additional, Puck, Jennifer, additional, Burroughs, Lauri, additional, Griffith, Linda, additional, Notarangelo, Luigi, additional, Pulsipher, Michael, additional, Cowan, Morton, additional, Marsh, Rebecca, additional, Pai, Sung-Yun, additional, Torgerson, Troy, additional, Kohn, Donald B., additional, and Wright, Nicola, additional

Published
2024
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11. 13 Long-Term Medical Management of Patients with Chronic Granulomatous Disease, Wiskott-Aldrich Syndrome, and Primary Immune Regulatory Disorders: A Primary Immune Deficiency Treatment Consortium Survey

Author

Deal, Christin, primary, Lim, Stephanie Si, additional, Ishikawa, Kyle, additional, Tsalatsanis, Athanasios, additional, Ochfeld, Elisa, additional, Petrovic, Aleks, additional, Mallhi, Kanwaldeep, additional, Joshi, Avni, additional, Shimano, Kristin, additional, Dvorak, Christopher, additional, Haddad, Elie, additional, Kohn, Donald B., additional, Griffith, Linda, additional, Notarangelo, Luigi, additional, Pulsipher, Michael, additional, Cowan, Morton, additional, Pai, Sung-Yun, additional, Puck, Jennifer, additional, Burroughs, Lauri, additional, Heimall, Jennifer, additional, and Leiding, Jennifer, additional

Published
2024
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13. Successful newborn screening for SCID in the Navajo Nation

Author

Kwan, Antonia, Hu, Diana, Song, Miran, Gomes, Heidi, Brown, Denise R, Bourque, Trudy, Gonzalez-Espinosa, Diana, Lin, Zhili, Cowan, Morton J, and Puck, Jennifer M

Subjects
Paediatrics, Biomedical and Clinical Sciences, Rare Diseases, Infant Mortality, Clinical Research, Pediatric, Genetics, Perinatal Period - Conditions Originating in Perinatal Period, American Indian or Alaska Native, DNA-Binding Proteins, Endonucleases, Feasibility Studies, Humans, Indians, North American, Infant, Newborn, Lymphopenia, Neonatal Screening, Nuclear Proteins, Pilot Projects, Polymerase Chain Reaction, Severe Combined Immunodeficiency, Artemis, Navajo, Newborn screening, Primary immunodeficiency, SCID, TREC, Immunology
Abstract

Newborn screening (NBS) for severe combined immunodeficiency (SCID) identifies affected infants before the onset of life-threatening infections, permitting optimal treatment. Navajo Native Americans have a founder mutation in the DNA repair enzyme Artemis, resulting in frequent Artemis SCID (SCID-A). A pilot study at 2 Navajo hospitals assessed the feasibility of SCID NBS in this population. Dried blood spots from 1800 infants were assayed by PCR for T-cell receptor excision circles (TRECs), a biomarker for naïve T cells. Starting in February 2012, TREC testing transitioned to standard care throughout the Navajo Area Indian Health Service, and a total of 7900 infants were screened through July 2014. One infant had low TRECs and was diagnosed with non-SCID T lymphopenia, while 4 had undetectable TRECs due to SCID-A, all of whom were referred for hematopoietic cell transplantation. This report establishes the incidence of SCID-A and demonstrates effectiveness of TREC NBS in the Navajo.

Published
2015

14. High symptom burden in female X-linked chronic granulomatous disease carriers

Author

Miranda, Mary Ann, Tsalatsanis, Athanasios, Trotter, Jessica R., Arnold, Danielle E., Squire, Jacqueline D., Kidd, Sharon, Parikh, Suhag, Marsh, Rebecca A., Griffith, Linda M., Mallhi, Kanwaldeep, Chellapandian, Deepak, Lim, Stephanie Si, Grunebaum, Eyal, Sullivan, Kathleen E., Newburger, Peter E., Dinauer, Mary C., Cowan, Morton J., Dvorak, Christopher C., Haddad, Elie, Kohn, Donald B., Notarangelo, Luigi D., Pai, Sung-Yun, Puck, Jennifer M., Pulsipher, Michael A., Torgerson, Troy R., Malech, Harry L., Kang, Elizabeth M., Morton, Felicia B., and Leiding, Jennifer W.

Published
2024
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16. 169 Long Term Management of Transplanted Patients with Chronic Granulomatous Disease, Wiskott-Aldrich Syndrome, and Primary Immune Regulatory Disorders: A PIDTC Survey

Author

Lim, Stephanie Si, Deal, Christin, Ishikawa, Kyle, Tsalatsanis, Athanasios, Ochfeld, Elisa, Petrovic, Aleks, Mallhi, Kanwaldeep, Joshi, Avni, Shimano, Kristin, Dvorak, Christopher, Haddad, Elie, Kohn, Donald B., Griffith, Linda, Notarangelo, Luigi, Pulsipher, Michael, Cowan, Morton, Pai, Sung-Yun, Puck, Jennifer, Leiding, Jennifer, Heimall, Jennifer, and Burroughs, Lauri

Published
2024
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18. List of Contributors

Author

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

Published
2019
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19. Newborn screening has improved the survival of infants with severe combined immunodeficiency (SCID) – a Primary Immune Deficiency Treatment Consortium (PIDTC) study

Author

Thakar, Monica, primary, Logan, Brent R., additional, Puck, Jennifer, additional, Dunn, Elizabeth, additional, Buckley, Rebecca, additional, Cowan, Morton, additional, Pai, Sung-Yun, additional, Heimall, Jennifer, additional, Pulsipher, Michael, additional, Griffith, Linda, additional, Haddad, Elie, additional, Dvorak, Christopher C., additional, and Notarangelo, Luigi, additional

Published
2023
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20. Recommendations from the ClinGen SCID VCEP: Implementation of ACMG/AMP Variant Curation Guidelines for Severe Combined Immunodeficiency Disease

Author

Jacovas, Vanessa, primary, Zelnick, Michelle, additional, Cowan, Morton, additional, Ghosh, Rajarshi, additional, Hershfield, Michael, additional, Puck, Jennifer, additional, Verbsky, James, additional, Walter, Jolan, additional, Yuan, Bo, additional, Martin, Shiloh, additional, Pan, Xueyang, additional, McNulty, Shannon, additional, Johnson, Britt, additional, and Chinn, Ivan, additional

Published
2023
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21. Racial and Ethnic Disparities in Outcomes following Hematopoietic Stem Cell Transplant (HCT) in Patients with Severe Combined Immunodeficiency (SCID)

Author

Winestone, Lena, primary, Logan, Brent R., additional, Liu, Xuerong, additional, Buckley, Rebecca H., additional, O’Reilly, Richard J, additional, Griffith, Linda M., additional, Puck, Jennifer, additional, Dvorak, Christopher C., additional, Cowan, Morton J, additional, and Haddad, Elie, additional

Published
2023
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36. Treatment of patients with new onset Type 1 diabetes with a single course of anti-CD3 mAb teplizumab preserves insulin production for up to 5 years

Author

Peter A. Gottlieb, Peter H. Sayre, Jennifer M. Puck, William Hagopian, Vicki Seyfert-Margolis, Kevan C. Herold, Kasia Bourcier, Emelita Wong, Jeffrey A. Bluestone, Carla J. Greenbaum, Peter Bianchine, and Stephen E. Gitelman

Subjects
Male, medicine.medical_specialty, Adolescent, CD3 Complex, Fever, Gastrointestinal Diseases, Vomiting, medicine.medical_treatment, Immunology, Antibodies, Monoclonal, Humanized, Article, Muromonab-CD3, Diabetes mellitus, Internal medicine, Humans, Hypoglycemic Agents, Insulin, Immunology and Allergy, Medicine, Child, Adverse effect, Type 1 diabetes, C-Peptide, Teplizumab, business.industry, T-cell receptor excision circles, Nausea, Anti-CD3 monoclonal antibody, Exanthema, medicine.disease, Diabetes Mellitus, Type 1, Treatment Outcome, Endocrinology, Female, business, Follow-Up Studies, medicine.drug
Abstract

Anti-CD3 mAbs may prolong beta cell function up to 2 years in patients with new onset Type 1 diabetes (T1DM). A randomized open label trial of anti-CD3 mAb, Teplizumab, in T1DM was stopped after 10 subjects because of increased adverse events than in a previous trial related with higher dosing of drug. Teplizumab caused transient reduction in circulating T cells, but the recovered cells were not new thymic emigrants because T cell receptor excision circles were not increased. There was a trend for reduced loss of C-peptide over 2 years with drug treatment (p=0.1), and insulin use was lower (p

Published
2009
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37. IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD

Author

Charles Haines, Francisco A. Bonilla, Manish J. Butte, and Jennifer M. Puck

Subjects
Male, Immunology, Graft vs Host Disease, Biology, medicine.disease_cause, Article, Exon, Myasthenia Gravis, medicine, Intronic Mutation, Humans, Point Mutation, Immunology and Allergy, Interleukin-7 receptor, Severe combined immunodeficiency, Mutation, Receptors, Interleukin-7, Base Sequence, Myositis, Point mutation, Hematopoietic Stem Cell Transplantation, Infant, medicine.disease, Introns, Transplantation, Severe Combined Immunodeficiency, Cytokine receptor
Abstract

Severe combined immunodeficiency (SCID) may result from a variety of genetic defects that impair the development of T cells. Signaling mediated by the cytokine interleukin-7 is essential for the differentiation of T cells from lymphoid progenitors, and mutations of either the interleukin-7 receptor alpha chain (IL-7Ralpha) or its associated cytokine receptor chain, the common gamma chain (gammac), result in SCID. Here we report a case of SCID due to heterozygous mutations of the IL7R gene encoding IL-7Ralpha. A previously unrecognized mutation found within intron 3 created a new exon between exons 3 and 4 in the mRNA transcribed from this allele, producing a truncated, unstable mRNA. This mutation illustrates the necessity of evaluating both coding and non-coding regions of genes when searching for pathogenic mutations. Following hematopoietic stem cell transplantation of our patient, immune reconstitution was accompanied by two unusual complications, immune-mediated myositis and myasthenia gravis.

Published
2007
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38. HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia)

Author

Sharon Adams, Janet K. Dale, Roxanne Fischer, Joie Davis, Sharon E. Straus, Marla M. Vacek, Alejandro A. Schäffer, and Jennifer M. Puck

Subjects
Immunology, Human leukocyte antigen, Biology, Severity of Illness Index, Receptors, Tumor Necrosis Factor, Autoimmune Diseases, HLA-B44 Antigen, Gene Frequency, HLA-DQ Antigens, medicine, HLA-DQ beta-Chains, Humans, Immunology and Allergy, fas Receptor, Allele, Allele frequency, Alleles, Autoimmune disease, Histocompatibility Testing, musculoskeletal, neural, and ocular physiology, Syndrome, medicine.disease, Fas receptor, Penetrance, Lymphoproliferative Disorders, HLA-A, HLA-B Antigens, Data Interpretation, Statistical, Autoimmune lymphoproliferative syndrome, Mutation
Abstract

Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte apoptosis characterized by non-malignant lymphadenopathy and splenomegaly, expansion of T cells without either CD4 or CD8 surface markers, and increased incidence of autoimmune diseases and lymphoma. Most patients with ALPS have dominant, heterozygous mutations in tumor necrosis factor receptor superfamily member 6 (TNFRSF6), which encodes CD95, also known as Fas, a mediator of apoptosis. Penetrance and range of disease manifestations in ALPS are highly variable, even among family members who share the same dominant TNFRSF6 mutation. To evaluate HLA as a candidate modifier locus, we typed HLA A, B (including subtypes), and DQB alleles in 356 individuals from 63 unrelated families with defined TNFRSF6 mutations associated with ALPS. We also developed a quantitative severity score and performed statistical analysis. Among the healthier, mutation-bearing individuals, transmission of HLA B44 was significantly overrepresented (nominal P

Published
2006
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39. Aberrant T-Cell Antigen Receptor-Mediated Responses in Autoimmune Lymphoproliferative Syndrome

Author

Anthony Thompson, Sharon E. Straus, Clay Hollenback, Frederick D. Goldman, Zuhair K. Ballas, Kejing Song, Jennifer M. Puck, Rajeev Vibhakar, Robert T. Cook, and Thomas W. Loew

Subjects
Antigens, Differentiation, T-Lymphocyte, Interleukin 2, Cytoplasm, Immunology, Receptors, Antigen, T-Cell, Biology, Lymphocyte Activation, T-Lymphocytes, Regulatory, Autoimmune Diseases, Interferon-gamma, Antigens, CD, T-Lymphocyte Subsets, medicine, Humans, Immunology and Allergy, Cytotoxic T cell, Lectins, C-Type, fas Receptor, IL-2 receptor, CD40, Receptors, Interleukin-2, Syndrome, medicine.disease, Fas receptor, Lymphoproliferative Disorders, Child, Preschool, Autoimmune lymphoproliferative syndrome, Fas signaling pathway, biology.protein, Cancer research, Interleukin-2, Calcium, Interleukin-4, CD8, Signal Transduction, medicine.drug
Abstract

Autoimmune Lymphoproliferative Syndrome (ALPS) is a disorder of defective lymphocyte apoptosis due to mutations of the Fas receptor and other molecules in the Fas signaling pathway. In addition to accumulation of CD4(-) CD8(-) double-negative (DN) T cells, many patients display a dysregulated cytokine pattern with dysfunctional T cells, suggesting Fas defects may impact pathways of T-cell activation/differentiation. Here, we report two novel mutations in the Fas receptor resulting in an ALPS phenotype. Utilizing flow cytometry, we found anti-CD3 activated CD4(+) T cells from these patients were incapable of fully upregulating activation markers (CD25, CD69, and CD40L) or producing interferon-gamma and IL-2. Additionally, DN T cells were unable to transduce proximal T-cell antigen receptor signals or produce cytokines. Furthermore, DN T cells overexpressed CD57 and phenotypically resembled end-stage effector cells. As DN T cells were essentially anergic, the clinical manifestations of autoimmunity are more likely to be a consequence of aberrant cytokine secretion within the CD4(+) T-cell subpopulation.

Published
2002
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40. Efficient Detection of Thirty-Seven New IL2RG Mutations in Human X-Linked Severe Combined Immunodeficiency

Author

Roxanne Fischer, Thomas A. Fleisher, Jennifer M. Puck, Amy P. Hsu, and Julie E. Niemela

Subjects
Male, X Chromosome, Genetic Linkage, Molecular Sequence Data, Immunology, Biology, medicine.disease_cause, medicine, Humans, Immunology and Allergy, Lymphocyte Count, X-linked severe combined immunodeficiency, Gene, X chromosome, Genetics, Severe combined immunodeficiency, Mutation, Base Sequence, Point mutation, Receptors, Interleukin-2, Sequence Analysis, DNA, Amplicon, medicine.disease, Molecular biology, Severe Combined Immunodeficiency, Cytokine receptor
Abstract

X-linked severe combined immunodeficiency (XSCID) is a rare and potentially fatal disease caused by mutations of IL2RG, the gene encoding the interleukin-2 receptor gamma chain, a component of multiple cytokine receptors that are essential for lymphocyte development and function. To date, over 100 different mutations of IL2RG resulting in XSCID have been published. Using nonradioactive, direct DNA sequencing of a single PCR amplicon containing the whole IL2RG gene, we found IL2RG mutations in 78 previously unpublished unrelated cases of XSCID. We report 37 newly identified mutations of IL2RG, including 23 point mutations, 10 small deletions, 3 instances of the same single nucleotide insertion, 1 large deletion, and 2 complex mutations. More than half of the mutations (22 of 37) were predicted to result in unstable IL2RG mRNA. The remaining 14 mutations disrupted conserved functional motifs common to all cytokine receptor family members; changed protein conformation, charge, or hydrophobicity; or altered the intracellular portion of the protein, which is critical for proper interaction with signal-transducing molecules including Janus family tyrosine kinase 3.

Published
2000
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41. Expression in Transgenic Mice of Dominant Interfering Fas Mutations: A Model for Human Autoimmune Lymphoproliferative Syndrome

Author

Amy Chen, Jennifer M. Puck, David E. Kleiner, Jan Erikson, Venktesh R. Ramnath, Karen L. Simon-Stoos, Youngnim Choi, and Ashlyn Eaton

Subjects
Genetically modified mouse, Mice, Inbred MRL lpr, Fas Ligand Protein, T-Lymphocytes, Transgene, Immunology, Apoptosis, Mice, Transgenic, Biology, urologic and male genital diseases, medicine.disease_cause, Autoimmune Diseases, Autoimmunity, Mice, immune system diseases, Lymphocyte homeostasis, medicine, Animals, Humans, Immunology and Allergy, skin and connective tissue diseases, Lymphatic Diseases, Genes, Dominant, Mutation, Membrane Glycoproteins, Liver Diseases, Fas receptor, medicine.disease, Lymphoproliferative Disorders, Phenotype, Liver, Antibodies, Antinuclear, Autoimmune lymphoproliferative syndrome, Antigens, Surface, Splenomegaly, Lymph Nodes, Spleen
Abstract

Most humans with autoimmune lymphoproliferative syndrome (ALPS) carry heterozygous dominant mutations in one allele of the gene encoding Fas/APO-1/CD95. ALPS patients, like Fas-deficient MRL lpr/lpr mice, have lymphoproliferation, autoimmunity, increased CD4(-)/CD8(-) T lymphocytes, and apoptosis defects. Consistent with the phenotypic variability of lpr/lpr mice of different background strains, human genetic studies indicate that a Fas mutation is insufficient to induce ALPS in all mutation carriers. To investigate the dominant function of human Fas mutations and the additional genetic factor(s) involved in the development of ALPS, we generated transgenic mice expressing, in addition to endogenous Fas, mouse Fas molecules bearing mutations in the intracellular death domain corresponding to mutations identified in ALPS patients. Transgenic mice developed mild features of ALPS, including hepatosplenomegaly, elevated proportions of lymphocytes in spleen and lymph nodes, apoptotic defects, and hepatic lymphocytic infiltrates. Therefore defective murine Fas proteins act in a dominant manner to impair apoptosis of activated lymphocytes and disrupt lymphocyte homeostasis. The influence of genetic background on phenotype was studied by comparing transgenic mice on FVB/N and (FVB/N x MRL) backgrounds with syngenetic control mice and with MRL and MRL lpr/lpr mice. While expression of transgenic mutant Fas contributed mainly to hepatosplenomegaly and accumulation of lymphocytes, MRL background genes played a major role in the production of autoantibodies and elevated serum immunoglobulin levels. Moreover, compared to FVB/N (+/+) mice, a substantial Fas-specific apoptotic defect was found in MRL (+/+) mice, suggesting a mechanism for the known tendency of this strain to develop autoimmunity.

Published
1999
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49. TcR-α/β+CD4−CD8−T Cells in Humans with the Autoimmune Lymphoproliferative Syndrome Express a Novel CD45 Isoform That Is Analogous to Murine B220 and Represents a Marker of Altered O-Glycan Biosynthesis

Author

Bleesing, Jack J.H., Brown, Margaret R., Dale, Janet K., Straus, Stephen E., Lenardo, Michael J., Puck, Jennifer M., Atkinson, T.Prescott, and Fleisher, Thomas A.

Abstract

Autoimmune lymphoproliferative syndrome (ALPS), caused by inherited defects in apoptosis secondary to mutations in genes encoding Fas/CD95/APO-1 and Fas ligand (Fasl)/CD95L, is characterized by nonmalignant lymphadenopathy and splenomegaly, increased T cell receptor α/β+CD4−CD8−T cells (α/β+double-negative T cells [α/β+-DNT cells]), autoimmunity, hypergammaglobulinemia, and cytokine abnormalities. The α/β+-DNT cells are immunophenotypically and functionally similar to α/β+-DNT cells that accumulate in lprand gldmice, which bear genetic mutations in Fas and FasL. In these mice, α/β+-DNT cells express the B-cell-specific CD45R isoform B220. We show that α/β+-DNT cells of ALPS patients, with either Fas or FasL mutations, also express B220. In addition, also similar to LPR/gLDmice, they have an unusual population of B220-positive CD4+T cells. B220 expression, together with our finding of characteristic lectin binding profiles, demonstrates that cell surface O-linked glycoproteins have undergone specific modifications, which may have consequences for lymphocyte trafficking, cell–cell interactions, and access to alternative apoptosis pathways.

Published
2001
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50. Efficient Detection of Thirty-Seven New IL2RGMutations in Human X-Linked Severe Combined Immunodeficiency

Author

Niemela, Julie E., Puck, Jennifer M., Fischer, Roxanne E., Fleisher, Thomas A., and Hsu, Amy P.

Abstract

X-linked severe combined immunodeficiency (XSCID) is a rare and potentially fatal disease caused by mutations of IL2RG,the gene encoding the interleukin-2 receptor γ chain, a component of multiple cytokine receptors that are essential for lymphocyte development and function. To date, over 100 different mutations of IL2RGresulting in XSCID have been published. Using nonradioactive, direct DNA sequencing of a single PCR amplicon containing the whole IL2RGgene, we found IL2RGmutations in 78 previously unpublished unrelated cases of XSCID. We report 37 newly identified mutations of IL2RG,including 23 point mutations, 10 small deletions, 3 instances of the same single nucleotide insertion, 1 large deletion, and 2 complex mutations. More than half of the mutations (22 of 37) were predicted to result in unstable IL2RG mRNA. The remaining 14 mutations disrupted conserved functional motifs common to all cytokine receptor family members; changed protein conformation, charge, or hydrophobicity; or altered the intracellular portion of the protein, which is critical for proper interaction with signal-transducing molecules including Janus family tyrosine kinase 3.

Published
2000
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