Search

Your search keyword '"Roehrs, Philip"' showing total 30 results
Start Over Author "Roehrs, Philip"
30 results on '"Roehrs, Philip"'

1. A pragmatic multi-institutional approach to understanding transplant-associated thrombotic microangiopathy after stem cell transplant

Author

Dandoy, Christopher E, Rotz, Seth, Alonso, Priscila Badia, Klunk, Anna, Desmond, Catherine, Huber, John, Ingraham, Hannah, Higham, Christine, Dvorak, Christopher C, Duncan, Christine, Schoettler, Michelle, Lehmann, Leslie, Cancio, Maria, Killinger, James, Davila, Blachy, Phelan, Rachel, Mahadeo, Kris M, Khazal, Sajad, Lalefar, Nahal, Vissa, Madhav, Myers, Kasiani, Wallace, Greg, Nelson, Adam, Khandelwal, Pooja, Bhatla, Deepika, Gloude, Nicholas, Anderson, Eric, Huo, Jeffrey, Roehrs, Philip, Auletta, Jeffery J, Chima, Ranjit, Lane, Adam, Davies, Stella M, and Jodele, Sonata

Subjects
Prevention, Clinical Research, Pediatric, Regenerative Medicine, Clinical Trials and Supportive Activities, Transplantation, Cancer, Child, Hematopoietic Stem Cell Transplantation, Humans, Incidence, Male, Prospective Studies, Retrospective Studies, Thrombotic Microangiopathies
Abstract

Transplant-associated thrombotic microangiopathy (TA-TMA) is a severe complication of hematopoietic stem cell transplantation (HSCT). A single-center prospective screening study has shown that the incidence of TA-TMA is much higher than prior retrospective studies that did not systematically screen. These data have not been replicated in a multicenter study. Our objective was to determine the incidence and risk factors for TA-TMA and compare outcomes of pediatric HSCT patients with and without TA-TMA. Patients were prospectively screened for TA-TMA at participating centers using a simple to implement and inexpensive strategy from the start of the preparative regimen through day +100. TA-TMA was diagnosed if ≥4 of 7 laboratory/clinical markers diagnostic for TA-TMA were present concurrently or if tissue histology showed TA-TMA. A total of 614 patients (359 males; 58%) received prospective TA-TMA screening at 13 pediatric centers. TA-TMA was diagnosed in 98 patients (16%) at a median of 22 days (interquartile range, 14-44) posttransplant. Patients with TA-TMA had significantly increased bloodstream infections (38% [37/98] vs 21% [107/51], P ≤ .001), mean total hospitalization days (68; 95% confidence interval [CI], 63-74 vs 43; 95% CI, 41-45; P ≤ .001), and number of days spent in the intensive care unit (10.1; 95% CI, 6.4-14; vs 1.6; 95% CI, 1.1-2.2; P ≤ .001) in the first 100 days after HSCT compared with patients without TA-TMA. Overall survival was significantly higher in patients without TA-TMA (93%; 490/516) compared with patients with TA-TMA (78%; 76/98) (P ≤ .001). These data support the need for systematic screening for TA-TMA and demonstrate the feasibility and efficacy of an easy to implement strategy to do so.

Published
2021

2. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Author

Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dickson, Patricia, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Seto, Elaine, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Ganetzky, Rebecca, Kranz, Peter G., Sondheimer, Neal, Markert, M. Louise, Sadeghpour, Azita, Roehrs, Philip, Arbogast, Thomas, Muraresku, Colleen, Tyndall, Amanda V., Esser, Michael J., Woodward, Kristine E., Ping-Yee Au, Billie, Parboosingh, Jillian S., Lamont, Ryan E., Bernier, Francois P., Wright, Nicola A.M., Benseler, Susa M., Parsons, Simon J., El-Dairi, Mays, Valdez, Purnima, Tennison, Michael, Innes, A. Micheil, and Davis, Erica E.

Published
2023
Full Text
View/download PDF

3. Alemtuzumab and CXCL9 levels predict likelihood of sustained engraftment after reduced-intensity conditioning HCT

Author

Geerlinks, Ashley V., Scull, Brooks, Krupski, Christa, Fleischmann, Ryan, Pulsipher, Michael A., Eapen, Mary, Connelly, James A., Bollard, Catherine M., Pai, Sung-Yun, Duncan, Christine N., Kean, Leslie S., Baker, K. Scott, Burroughs, Lauri M., Andolina, Jeffrey R., Shenoy, Shalini, Roehrs, Philip, Hanna, Rabi, Talano, Julie-An, Schultz, Kirk R., Stenger, Elizabeth O., Lin, Howard, Zoref-Lorenz, Adi, McClain, Kenneth L., Jordan, Michael B., Man, Tsz-Kwong, Allen, Carl E., and Marsh, Rebecca A.

Published
2023
Full Text
View/download PDF

4. Outcomes of pediatric patients with therapy-related myeloid neoplasms

Author

Sharma, Akshay, Huang, Sujuan, Li, Ying, Brooke, Russell J., Ahmed, Ibrahim, Allewelt, Heather B., Amrolia, Persis, Bertaina, Alice, Bhatt, Neel S., Bierings, Marc B., Bies, Joshua, Brisset, Claire, Brondon, Jennifer E., Dahlberg, Ann, Dalle, Jean-Hugues, Eissa, Hesham, Fahd, Mony, Gassas, Adam, Gloude, Nicholas J., Goebel, W. Scott, Goeckerman, Erika S., Harris, Katherine, Ho, Richard, Hudspeth, Michelle P., Huo, Jeffrey S., Jacobsohn, David, Kasow, Kimberly A., Katsanis, Emmanuel, Kaviany, Saara, Keating, Amy K., Kernan, Nancy A., Ktena, Yiouli P., Lauhan, Colette R., López-Hernandez, Gerardo, Martin, Paul L., Myers, Kasiani C., Naik, Swati, Olaya-Vargas, Alberto, Onishi, Toshihiro, Radhi, Mohamed, Ramachandran, Shanti, Ramos, Kristie, Rangarajan, Hemalatha G., Roehrs, Philip A., Sampson, Megan E., Shaw, Peter J., Skiles, Jodi L., Somers, Katherine, Symons, Heather J., de Tersant, Marie, Uber, Allison N., Versluys, Birgitta, Cheng, Cheng, and Triplett, Brandon M.

Published
2021
Full Text
View/download PDF

5. Reduced-intensity conditioning for hematopoietic cell transplant for HLH and primary immune deficiencies

Author

Allen, Carl E., Marsh, Rebecca, Dawson, Peter, Bollard, Catherine M., Shenoy, Shalini, Roehrs, Philip, Hanna, Rabi, Burroughs, Lauri, Kean, Leslie, Talano, Julie-An, Schultz, Kirk R., Pai, Sung-Yun, Baker, K. Scott, Andolina, Jeffrey R., Stenger, Elizabeth O., Connelly, James, Ramirez, Alyssa, Bryant, Christopher, Eapen, Mary, and Pulsipher, Michael A.

Published
2018
Full Text
View/download PDF

6. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Author

Shashi, Vandana, primary, Schoch, Kelly, additional, Ganetzky, Rebecca, additional, Kranz, Peter G., additional, Sondheimer, Neal, additional, Markert, M. Louise, additional, Cope, Heidi, additional, Sadeghpour, Azita, additional, Roehrs, Philip, additional, Arbogast, Thomas, additional, Muraresku, Colleen, additional, Tyndall, Amanda V., additional, Esser, Michael J., additional, Woodward, Kristine E., additional, Ping-Yee Au, Billie, additional, Parboosingh, Jillian S., additional, Lamont, Ryan E., additional, Bernier, Francois P., additional, Wright, Nicola A.M., additional, Benseler, Susa M., additional, Parsons, Simon J., additional, El-Dairi, Mays, additional, Smith, Edward C., additional, Valdez, Purnima, additional, Tennison, Michael, additional, Innes, A. Micheil, additional, Davis, Erica E., additional, Acosta, Maria T., additional, Adam, Margaret, additional, Adams, David R., additional, Alvarez, Raquel L., additional, Alvey, Justin, additional, Amendola, Laura, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bennett, Jimmy, additional, Berg-Rood, Beverly, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Boyd, Brenna, additional, Briere, Lauren C., additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Cassini, Thomas, additional, Peter Chang, Ta Chen, additional, Chanprasert, Sirisak, additional, Chao, Hsiao-Tuan, additional, Chinn, Ivan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Corona, Rosario, additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D’Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davis, Joie, additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dickson, Patricia, additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Doss, Argenia L., additional, Douine, Emilie D., additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Falk, Marni, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Gahl, William A., additional, Glass, Ian, additional, Gochuico, Bernadette, additional, Goddard, Page C., additional, Godfrey, Rena A., additional, Golden-Grant, Katie, additional, Grajewski, Alana, additional, Hadley, Don, additional, Hahn, Sihoun, additional, Halley, Meghan C., additional, Hamid, Rizwan, additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Hutchison, Sarah, additional, Introne, Wendy, additional, Isasi, Rosario, additional, Izumi, Kosuke, additional, Jamal, Fariha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jean-Marie, Orpa, additional, Jobanputra, Vaidehi, additional, Karaviti, Lefkothea, additional, Ketkar, Shamika, additional, Kiley, Dana, additional, Kilich, Gonench, additional, Kobren, Shilpa N., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Korrick, Susan, additional, Kozuira, Mary, additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Levitt, Roy, additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Maghiro, Audrey Stephannie, additional, Mahoney, Rachel, additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Maravilla, Kenneth, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, McGee, Elisabeth, additional, Mefford, Heather, additional, Merritt, J. Lawrence, additional, Might, Matthew, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo, additional, Mulvihill, John, additional, Nakano-Okuno, Mariko, additional, Nelson, Stanley F., additional, Newman, John H., additional, Nicholas, Sarah K., additional, Nickerson, Deborah, additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Pusey Swerdzewski, Barbara N., additional, Quinlan, Aaron, additional, Rao, Deepak A., additional, Raper, Anna, additional, Raskind, Wendy, additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rosenwasser, Natalie, additional, Rossignol, Francis, additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Scott, Daryl A., additional, Scott, C. Ron, additional, Seto, Elaine, additional, Shashi, Vandana, additional, Shin, Jimann, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Solomon, Ben, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Sullivan, Kathleen, additional, Sullivan, Jennifer A., additional, Sun, Angela, additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tan, Queenie K.-G., additional, Tan, Amelia L.M., additional, Tarakad, Arjun, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Ungar, Rachel A., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walker, Melissa, additional, Wallace, Stephanie, additional, Walley, Nicole M., additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Hubshman, Monika Weisz, additional, Wener, Mark, additional, Wenger, Tara, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Worley, Kim, additional, Xiao, Changrui, additional, Yamamoto, Shinya, additional, Yang, John, additional, Zhang, Zhe, additional, and Zuchner, Stephan, additional

Published
2023
Full Text
View/download PDF

7. Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency

Author

Boutboul, David, Kuehn, Hye Sun, Wyngaert, Zoe Van de, Niemela, Julie E., Callebaut, Isabelle, Stoddard, Jennifer, Lenoir, Christelle, Barlogis, Vincent, Farnarier, Catherine, Vely, Frederic, Yoshida, Nao, Kojima, Seiji, Kanegane, Hirokazu, Hoshino, Akihiro, Hauck, Fabian, Lhermitte, Ludovic, Asnafi, Vahid, Roehrs, Philip, Chen, Shaoying, Verbsky, James W., Calvo, Katherine R., Husami, Ammar, Zhang, Kejian, Roberts, Joseph, Amrol, David, Sleaseman, John, Hsu, Amy P., Holland, Steven M., Marsh, Rebecca, Fischer, Alain, Fleisher, Thomas A., Picard, Capucine, Latour, Sylvain, and Rosenzweig, Sergio D.

Subjects
Physiological aspects, Research, Genetic aspects, Risk factors, Properties, Hematopoiesis -- Research -- Genetic aspects, Gene mutation -- Research, Transcription factors -- Research -- Physiological aspects -- Properties, Acute lymphocytic leukemia -- Research -- Risk factors -- Genetic aspects
Abstract

Introduction IKAROS, a transcription factor encoded by IKZF1, is expressed during hematopoiesis (1, 2). It has been involved in positive regulation of lymphocyte differentiation and negative regulation of cell proliferation [...], Ikaros/IKZF1 is an essential transcription factor expressed throughout hematopoiesis. IKZF1 is implicated in lymphocyte and myeloid differentiation and negative regulation of cell proliferation. In humans, somatic mutations in IKZF1 have been linked to the development of B cell acute lymphoblastic leukemia (ALL) in children and adults. Recently, heterozygous germline IKZF1 mutations have been identified in patients with a B cell immune deficiency mimicking common variable immunodeficiency. These mutations demonstrated incomplete penetrance and led to haploinsufficiency. Herein, we report 7 unrelated patients with a novel early-onset combined immunodeficiency associated with de novo germline IKZF1 heterozygous mutations affecting amino acid N159 located in the DNA-binding domain of IKZF1. Different bacterial and viral infections were diagnosed, but Pneumocystis jirovecii pneumonia was reported in all patients. One patient developed a T cell ALL. This immunodeficiency was characterized by innate and adaptive immune defects, including low numbers of B cells, neutrophils, eosinophils, and myeloid dendritic cells, as well as T cell and monocyte dysfunctions. Notably, most T cells exhibited a naive phenotype and were unable to evolve into effector memory cells. Functional studies indicated these mutations act as dominant negative. This defect expands the clinical spectrum of human IKZF1- associated diseases from somatic to germline, from haploinsufficient to dominant negative.

Published
2018
Full Text
View/download PDF

9. Increased BCR responsiveness in B cells from patients with chronic GVHD

Author

Allen, Jessica L., Tata, Prasanthi V., Fore, Matthew S., Wooten, Jenna, Rudra, Sharmistha, Deal, Allison M., Sharf, Andrew, Hoffert, Todd, Roehrs, Philip A., Shea, Thomas C., Serody, Jonathan S., Richards, Kristy L., Jagasia, Madan, Lee, Stephanie J., Rizzieri, David, Horwitz, Mitchell E., Chao, Nelson J., and Sarantopoulos, Stefanie

Published
2014
Full Text
View/download PDF

11. B cells from patients with chronic GVHD are activated and primed for survival via BAFF-mediated pathways

Author

Allen, Jessica L., Fore, Matthew S., Wooten, Jenna, Roehrs, Philip A., Bhuiya, Nazmim S., Hoffert, Todd, Sharf, Andrew, Deal, Allison M., Armistead, Paul, Coghill, James, Gabriel, Don A., Irons, Robert, Essenmacher, Amber, Shea, Thomas C., Richards, Kristy, Cutler, Corey, Ritz, Jerome, Serody, Jonathan, Baldwin, Albert S., and Sarantopoulos, Stefanie

Published
2012
Full Text
View/download PDF

12. Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency

Author

Snow, Andrew L., Marsh, Rebecca A., Krummey, Scott M., Roehrs, Philip, Young, Lisa R., Zhang, Kejian, van Hoff, Jack, Dhar, Deepali, Nichols, Kim E., Filipovich, Alexandra H., Su, Helen C., Bleesing, Jack J., and Lenardo, Michael J.

Subjects
T cells -- Properties, Immune response -- Observations, Lymphoproliferative disorders -- Development and progression -- Care and treatment, Apoptosis -- Observations, Health care industry
Abstract

X-linked lymphoproliferative disease (XLP) is a rare congenital immunodeficiency that leads to an extreme, usually fatal increase in the number of lymphocytes upon infection with EBV. It is most commonly defined molecularly by loss of expression of SLAM-associated protein (SAP). Despite this, there is little understanding of how SAP deficiency causes lymphocytosis following EBV infection. Here we show that T cells from individuals with XLP are specifically resistant to apoptosis mediated by TCR restimulation, a process that normally constrains T cell expansion during immune responses. Expression of SAP and the SLAM family receptor NK, T, and B cell antigen (NTB-A) were required for TCR-induced upregulation of key pro-apoptotic molecules and subsequent apoptosis. Further, SAP/NTB-A signaling augmented the strength of the proximal TCR signal to achieve the threshold required for restimulation-induced cell death (RICD). Strikingly, TCR ligation in activated T cells triggered increased recruitment of SAP to NTB-A, dissociation of the phosphatase SHP-1, and colocalization of NTB-A with CD3 aggregates. In contrast, NTB-A and SHP-1 contributed to RICD resistance in XLP T cells. Our results reveal what we believe to be novel roles for NTB-A and SAP in regulating T cell homeostasis through apoptosis and provide mechanistic insight into the pathogenesis of lymphoproliferative disease in XLP., Introduction Effective adaptive immunity relies upon the activation and robust clonal expansion of responding T lymphocytes that orchestrate the elimination of infectious pathogens. However, it is critical to constrain the [...]

Published
2009
Full Text
View/download PDF

13. A pragmatic multi-institutional approach to understanding transplant-associated thrombotic microangiopathy after stem cell transplant

Author

Dandoy, Christopher E., primary, Rotz, Seth, additional, Alonso, Priscila Badia, additional, Klunk, Anna, additional, Desmond, Catherine, additional, Huber, John, additional, Ingraham, Hannah, additional, Higham, Christine, additional, Dvorak, Christopher C., additional, Duncan, Christine, additional, Schoettler, Michelle, additional, Lehmann, Leslie, additional, Cancio, Maria, additional, Killinger, James, additional, Davila, Blachy, additional, Phelan, Rachel, additional, Mahadeo, Kris M., additional, Khazal, Sajad, additional, Lalefar, Nahal, additional, Vissa, Madhav, additional, Myers, Kasiani, additional, Wallace, Greg, additional, Nelson, Adam, additional, Khandelwal, Pooja, additional, Bhatla, Deepika, additional, Gloude, Nicholas, additional, Anderson, Eric, additional, Huo, Jeffrey, additional, Roehrs, Philip, additional, Auletta, Jeffery J., additional, Chima, Ranjit, additional, Lane, Adam, additional, Davies, Stella M., additional, and Jodele, Sonata, additional

Published
2020
Full Text
View/download PDF

14. Safety and Antitumor Effects of CD19-Specific Autologous Chimeric Antigen Receptor-Modified T (CAR-T) Cells Expressing the Inducible Caspase 9 Safety Switch (iC9-CAR19 T Cells) in Adult Acute Lymphoblastic Leukemia (ALL)

Author

Foster, Matthew C, primary, Roehrs, Philip A., additional, Hucks, George E, additional, Grover, Natalie S, additional, Armistead, Paul M., additional, Jamieson, Katarzyna, additional, Buchanan, Faith Brianne, additional, Morrison, J. Kaitlin C, additional, Laing, Spencer, additional, Cheng, Catherine Joyce Arago, additional, Serody, Jonathan S., additional, Dotti, Gianpietro, additional, and Savoldo, Barbara, additional

Published
2020
Full Text
View/download PDF

16. Incidence and Outcomes of Patients with Thrombotic Microangiopathy after Transplant: Results of Prospective Screening through a Multi-Institutional Collaborative

Author

Dandoy, Christopher E, primary, Rotz, Seth R., additional, Alonso, Priscila Badia, additional, Lane, Adam, additional, Higham, Christine, additional, Dvorak, Christopher C., additional, Duncan, Christine N., additional, Schoettler, Michelle Long, additional, Lehmann, Leslie E., additional, Cancio, Maria, additional, Killinger, James, additional, Davila, Blachy, additional, Phelan, Rachel, additional, Prasad, Swathi, additional, Mahadeo, Kris Michael, additional, Khazal, Sajad J, additional, Lalefar, Nahal R, additional, Vissa, Madhav, additional, Klunk, Anna, additional, Bhatla, Deepika, additional, Gloude, Nicholas J., additional, Anderson, Eric Jon, additional, Huo, Jeffrey S., additional, Roehrs, Philip A., additional, Auletta, Jeffery J., additional, Davies, Stella M., additional, Chima, Ranjit, additional, and Jodele, Sonata, additional

Published
2020
Full Text
View/download PDF

17. Reduced Intensity Vs Myeloablative Conditioning Regimen for Pediatric Therapy-Related Myelodysplastic Syndrome/Acute Myeloid Leukemia

Author

Sharma, Akshay, primary, Brooke, Russell J., additional, Bhatt, Neel S., additional, Li, Ying, additional, Allewelt, Heather B., additional, Bies, Joshua J., additional, Brondon, Jennifer E., additional, Gloude, Nicholas J., additional, Goeckerman, Erica S., additional, Harris, Katherine M., additional, Ho, Richard H., additional, Hudspeth, Michelle, additional, Huo, Jeffrey S., additional, Jacobsohn, David A., additional, Kasow, Kimberly A., additional, Katsanis, Emmanuel, additional, Kaviany, Saara, additional, Ktena, Yiouli P., additional, Lauhan, Colette, additional, Lopez-Hernandez, Gerardo, additional, Myers, Kasiani C., additional, Naik, Swati, additional, Olaya-Vargas, Alberto, additional, Onishi, Toshihiro, additional, Ramos, Kristie N., additional, Rangarajan, Hemalatha G., additional, Roehrs, Philip A., additional, Sampson, Megan E., additional, Shook, David R., additional, Skiles, Jodi L., additional, Somers, Katherine M., additional, Spiegel, Courtney, additional, Symons, Heather J., additional, Uber, Allison, additional, and Triplett, Brandon M., additional

Published
2019
Full Text
View/download PDF

19. The genomic landscape of juvenile myelomonocytic leukemia

Author

Mahoney, Donald H, Yu, Ariel, Stewart, Chip, Costello, Joseph F, Stine, Kimo C, Stieglitz, Elliot, Cooper, Todd, Liu, Y Lucy, Olshen, Adam B, Gerbing, Robert B, Goyal, Rakesh K, Hugge, Christopher, Beckman, Kyle, Brown, Patrick A, Toretsky, Jeffrey A, Briones, Michael, Ma, Jing, Nemecek, Eneida R, Roehrs, Philip A, Abusin, Ghada, Schore, Reuven J, Hitzler, Johann, Li, Yongjin, Hayashi, Robert J, Monteleone, Philip, Carcamo, Benjamin, Emanuel, Peter D, Messinger, Yoav H, Archambeault, Sophie L, Takemoto, Clifford M, Fluchel, Mark N, and Dahl, Gary V

Abstract

Juvenile myelomonocytic leukemia (JMML) is a myeloproliferative neoplasm (MPN) of childhood with a poor prognosis. Mutations in NF1, NRAS, KRAS, PTPN11 and CBL occur in 85% of patients, yet there are currently no risk stratification algorithms capable of predicting which patients will be refractory to conventional treatment and therefore be candidates for experimental therapies. In addition, there have been few other molecular pathways identified aside from the Ras/MAPK pathway to serve as the basis for such novel therapeutic strategies. We therefore sought to genomically characterize serial samples from patients at diagnosis through relapse and transformation to acute myeloid leukemia in order to expand our knowledge of the mutational spectrum in JMML. We identified recurrent mutations in genes involved in signal transduction, gene splicing, the polycomb repressive complex 2 (PRC2) and transcription. Importantly, the number of somatic alterations present at diagnosis appears to be the major determinant of outcome.

Published
2015
Full Text
View/download PDF

20. Correction: Corrigendum: The genomic landscape of juvenile myelomonocytic leukemia

Author

Stieglitz, Elliot, primary, Taylor-Weiner, Amaro N, additional, Chang, Tiffany Y, additional, Gelston, Laura C, additional, Wang, Yong-Dong, additional, Mazor, Tali, additional, Esquivel, Emilio, additional, Yu, Ariel, additional, Seepo, Sara, additional, Olsen, Scott R, additional, Rosenberg, Mara, additional, Archambeault, Sophie L, additional, Abusin, Ghada, additional, Beckman, Kyle, additional, Brown, Patrick A, additional, Briones, Michael, additional, Carcamo, Benjamin, additional, Cooper, Todd, additional, Dahl, Gary V, additional, Emanuel, Peter D, additional, Fluchel, Mark N, additional, Goyal, Rakesh K, additional, Hayashi, Robert J, additional, Hitzler, Johann, additional, Hugge, Christopher, additional, Liu, Y Lucy, additional, Messinger, Yoav H, additional, Mahoney, Donald H, additional, Monteleone, Philip, additional, Nemecek, Eneida R, additional, Roehrs, Philip A, additional, Schore, Reuven J, additional, Stine, Kimo C, additional, Takemoto, Clifford M, additional, Toretsky, Jeffrey A, additional, Costello, Joseph F, additional, Olshen, Adam B, additional, Stewart, Chip, additional, Li, Yongjin, additional, Ma, Jing, additional, Gerbing, Robert B, additional, Alonzo, Todd A, additional, Getz, Gad, additional, Gruber, Tanja A, additional, Golub, Todd R, additional, Stegmaier, Kimberly, additional, and Loh, Mignon L, additional

Published
2016
Full Text
View/download PDF

21. The genomic landscape of juvenile myelomonocytic leukemia

Author

Stieglitz, Elliot, primary, Taylor-Weiner, Amaro N, additional, Chang, Tiffany Y, additional, Gelston, Laura C, additional, Wang, Yong-Dong, additional, Mazor, Tali, additional, Esquivel, Emilio, additional, Yu, Ariel, additional, Seepo, Sara, additional, Olsen, Scott R, additional, Rosenberg, Mara, additional, Archambeault, Sophie L, additional, Abusin, Ghada, additional, Beckman, Kyle, additional, Brown, Patrick A, additional, Briones, Michael, additional, Carcamo, Benjamin, additional, Cooper, Todd, additional, Dahl, Gary V, additional, Emanuel, Peter D, additional, Fluchel, Mark N, additional, Goyal, Rakesh K, additional, Hayashi, Robert J, additional, Hitzler, Johann, additional, Hugge, Christopher, additional, Liu, Y Lucy, additional, Messinger, Yoav H, additional, Mahoney, Donald H, additional, Monteleone, Philip, additional, Nemecek, Eneida R, additional, Roehrs, Philip A, additional, Schore, Reuven J, additional, Stine, Kimo C, additional, Takemoto, Clifford M, additional, Toretsky, Jeffrey A, additional, Costello, Joseph F, additional, Olshen, Adam B, additional, Stewart, Chip, additional, Li, Yongjin, additional, Ma, Jing, additional, Gerbing, Robert B, additional, Alonzo, Todd A, additional, Getz, Gad, additional, Gruber, Tanja A, additional, Golub, Todd R, additional, Stegmaier, Kimberly, additional, and Loh, Mignon L, additional

Published
2015
Full Text
View/download PDF

23. BCR Hyper-Responsiveness In B Cells From Patients With Chronic Gvhd Is Blocked With The Syk Inhibitor R406

Author

Allen, Jessica L., primary, Tata, Prasanthi V., additional, Wooten, Jenna, additional, Fore, Matthew S., additional, Deal, Allison M., additional, Sharf, Andrew, additional, Hoffert, Todd, additional, Roehrs, Philip A., additional, Armistead, Paul M., additional, Coghill, James, additional, Wood, William A., additional, Shea, Thomas C., additional, Serody, Jonathan, additional, Richards, Kristy L., additional, Jagasia, Madan, additional, Lee, Stephanie J., additional, Rowe, Krista, additional, Rizzieri, David, additional, Horwitz, Mitchell E., additional, Chao, Nelson J., additional, and Sarantopoulos, Stefanie, additional

Published
2013
Full Text
View/download PDF

24. Increased BLNK and Syk in B Cells From Chronic Graft-Versus-Host Disease Patients: Identification of Novel Therapeutic Targets

Author

Allen, Jessica L., primary, Fedoriw, George, additional, Wooten, Jenna, additional, Fore, Matthew, additional, Roehrs, Philip A., additional, Armistead, Paul, additional, Coghill, James, additional, Shea, Thomas C., additional, Richards, Kristy, additional, Lee, Stephanie J., additional, Rowe, Krista, additional, Rizzieri, David, additional, Chao, Nelson J., additional, Serody, Jonathan S., additional, and Sarantopoulos, Stefanie, additional

Published
2013
Full Text
View/download PDF

29. Successful use of palifermin following severe anaphylaxis to pegaspargase in a pediatric patient with acute lymphoblastic leukemia.

Author

Kaminski, Katie S., Beach, Cassidy L., Peden, David B., Uyenphuong Le, and Roehrs, Philip A.

Abstract

Palifermin and pegaspargase are Escherichia coli-derived drug products. Hypersensitivity reactions, including anaphylaxis, are frequently reported with pegaspargase. In high-risk acute lymphoblasic leukemia (ALL), patients undergoing allogeneic hematopoietic stem cell transplant may be treated with palifermin as a supportive care measure for mucositis prophylaxis. However, no literature exists documenting the cross-reactivity between palifermin and pegaspargase. We report a case in which a child with very high-risk ALL having experienced severe anaphylaxis with pegaspargase was later successfully treated with palifermin during stem cell transplant conditioning. [ABSTRACT FROM AUTHOR]

Published
2016
Full Text
View/download PDF

30. Corrigendum: The genomic landscape of juvenile myelomonocytic leukemia

Author

Stieglitz, Elliot, Taylor-Weiner, Amaro N, Chang, Tiffany Y, Gelston, Laura C, Wang, Yong-Dong, Mazor, Tali, Esquivel, Emilio, Yu, Ariel, Seepo, Sara, Olsen, Scott R, Rosenberg, Mara, Archambeault, Sophie L, Abusin, Ghada, Beckman, Kyle, Brown, Patrick A, Briones, Michael, Carcamo, Benjamin, Cooper, Todd, Dahl, Gary V, Emanuel, Peter D, Fluchel, Mark N, Goyal, Rakesh K, Hayashi, Robert J, Hitzler, Johann, Hugge, Christopher, Liu, Y Lucy, Messinger, Yoav H, Mahoney, Donald H, Monteleone, Philip, Nemecek, Eneida R, Roehrs, Philip A, Schore, Reuven J, Stine, Kimo C, Takemoto, Clifford M, Toretsky, Jeffrey A, Costello, Joseph F, Olshen, Adam B, Stewart, Chip, Li, Yongjin, Ma, Jing, Gerbing, Robert B, Alonzo, Todd A, Getz, Gad, Gruber, Tanja A, Golub, Todd R, Stegmaier, Kimberly, and Loh, Mignon L

Published
2016
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results