Genetic Mosaicism as a Cause of Inborn Errors of Immunity

por Aluri, Jahnavi, Cooper, Megan A.
Publicado 2021

Metabolic regulation of NK cell function: implications for immunotherapy

por Sohn, Hyogon, Cooper, Megan A.
Publicado 2023

Monogenic autoimmunity and infectious diseases: the double-edged sword of immune dysregulation

por Bigley, Tarin M, Cooper, Megan A
Publicado 2021

Toll-Like Receptor Signaling in the Establishment and Function of the Immune System

por Aluri, Jahnavi, Cooper, Megan A., Schuettpelz, Laura G.
Publicado 2021

STAT3 gain-of-function syndrome

por Vogel, Tiphanie P., Leiding, Jennifer W., Cooper, Megan A., Forbes Satter, Lisa R.
Publicado 2023

Recovery from COVID-19 in a Child with Chronic Granulomatous Disease and T Cell Lymphopenia

por Mantravadi, Vasudha, Nguyen, Suong T., Morley, S. Celeste, Bednarski, Jeffrey J., Kitcharoensakkul, Maleewan, Cooper, Megan A.
Publicado 2020

Case Report: “Primary Immunodeficiency”—Severe Autoimmune Enteropathy in a Pediatric Heart Transplant Recipient Treated With Abatacept and Alemtuzumab

por Kalaidina, Elizaveta, Utterson, Elizabeth C., Mokshagundam, Deepa, He, Mai, Shenoy, Shalini, Cooper, Megan A.
Publicado 2022

A Case of Severe Combined Immunodeficiency Missed by Newborn Screening

por Kitcharoensakkul, Maleewan, Aluri, Jahnavi, Elsharkawi, Ibrahim, Steed, Ashley, Putnam, Christopher D., Swayampakula, Anil K., Cooper, Megan A., Bednarski, Jeffrey J.
Publicado 2021

Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.

por Mantravadi, Vasudha, Bednarski, Jeffrey J., Ritter, Michelle A., Gu, Hongjie, Kolicheski, Ana L., Horner, Caroline, Cooper, Megan A., Kitcharoensakkul, Maleewan
Publicado 2021

Mycophenolate-Induced Colitis in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients

por Schmitt, Monica M., Ferré, Elise M. N., Sampaio De Melo, Michelly, Cooper, Megan A., Quezado, Martha M., Heller, Theo, Lionakis, Michail S.
Publicado 2021

Fatal Leukemia in Interleukin 15 Transgenic Mice Follows Early Expansions in Natural Killer and Memory Phenotype Cd8(+) T Cells

por Fehniger, Todd A., Suzuki, Kazuhiro, Ponnappan, Anand, VanDeusen, Jeffrey B., Cooper, Megan A., Florea, Sorin M., Freud, Aharon G., Robinson, Michael L., Durbin, Joan, Caligiuri, Michael A.
Publicado 2001

ETV6 germline mutations cause HDAC3/NCOR2 mislocalization and upregulation of interferon response genes

por Fisher, Marlie H., Kirkpatrick, Gregory D., Stevens, Brett, Jones, Courtney, Callaghan, Michael, Rajpurkar, Madhvi, Fulbright, Joy, Cooper, Megan A., Rowley, Jesse, Porter, Christopher C., Gutierrez-Hartmann, Arthur, Jones, Kenneth, Jordan, Craig, Pietras, Eric M., Di Paola, Jorge
Publicado 2020

A human STAT3 gain-of-function variant confers T cell dysregulation without predominant Treg dysfunction in mice

por Schmitt, Erica G., Toth, Kelsey A., Risma, Samuel I., Kolicheski, Ana, Saucier, Nermina, Berríos, Rafael J. Feliciano, Greenberg, Zev J., Leiding, Jennifer W., Bleesing, Jack J., Thatayatikom, Akaluck, Schuettpelz, Laura G., Edwards, John R., Vogel, Tiphanie P., Cooper, Megan A.
Publicado 2022

Stage-Specific Requirement for Eomes in Mature NK Cell Homeostasis and Cytotoxicity

por Wagner, Julia A., Wong, Pamela, Schappe, Timothy, Berrien-Elliott, Melissa M., Cubitt, Celia, Jaeger, Natalia, Lee, Madeline, Keppel, Cassie R., Marin, Nancy D., Foltz, Jennifer A., Marsala, Lynne, Neal, Carly C., Sullivan, Ryan P., Schneider, Stephanie E., Keppel, Molly P., Saucier, Nermina, Cooper, Megan A., Fehniger, Todd A.
Publicado 2020

Clonal hematopoiesis in survivors of childhood cancer

por Novetsky Friedman, Danielle, Chan, Irenaeus C. C., Moskowitz, Chaya S., Li, Shanita, Turner, Kimberly, Liu, Jie, Bouvier, Nancy, Walsh, Michael F., Spitzer, Barbara, Kung, Andrew L., Berger, Michael, Cooper, Megan A., Pusic, Iskra, Uy, Geoffrey, Link, Daniel, Druley, Todd E., Diaz, Luis A., Levine, Ross L., Shukla, Neerav, Bolton, Kelly L.
Publicado 2023

Multiplexed Functional Assessment of Genetic Variants in CARD11

por Meitlis, Iana, Allenspach, Eric J., Bauman, Bradly M., Phan, Isabelle Q., Dabbah, Gina, Schmitt, Erica G., Camp, Nathan D., Torgerson, Troy R., Nickerson, Deborah A., Bamshad, Michael J., Hagin, David, Luthers, Christopher R., Stinson, Jeffrey R., Gray, Jessica, Lundgren, Ingrid, Church, Joseph A., Butte, Manish J., Jordan, Mike B., Aceves, Seema S., Schwartz, Daniella M., Milner, Joshua D., Schuval, Susan, Skoda-Smith, Suzanne, Cooper, Megan A., Starita, Lea M., Rawlings, David J., Snow, Andrew L., James, Richard G.
Publicado 2020

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

por Sharma, Richa, Sahoo, Sushree S., Honda, Masayoshi, Granger, Sophie L., Goodings, Charnise, Sanchez, Louis, Künstner, Axel, Busch, Hauke, Beier, Fabian, Pruett-Miller, Shondra M., Valentine, Marcus B., Fernandez, Alfonso G., Chang, Ti-Cheng, Géli, Vincent, Churikov, Dmitri, Hirschi, Sandrine, Pastor, Victor B., Boerries, Melanie, Lauten, Melchior, Kelaidi, Charikleia, Cooper, Megan A., Nicholas, Sarah, Rosenfeld, Jill A., Polychronopoulou, Sophia, Kannengiesser, Caroline, Saintomé, Carole, Niemeyer, Charlotte M., Revy, Patrick, Wold, Marc S., Spies, Maria, Erlacher, Miriam, Coulon, Stéphane, Wlodarski, Marcin W.
Publicado 2022

Germline hypomorphic CARD11 mutations in severe atopic disease

por Ma, Chi A, Stinson, Jeffrey R, Zhang, Yuan, Abbott, Jordan K, Weinreich, Michael A, Hauk, Pia J, Reynolds, Paul R, Lyons, Jonathan J, Nelson, Celeste G, Ruffo, Elisa, Dorjbal, Batsukh, Glauzy, Salomé, Yamakawa, Natsuko, Arjunaraja, Swadhinya, Voss, Kelsey, Stoddard, Jennifer, Niemela, Julie, Zhang, Yu, Rosenzweig, Sergio D, McElwee, Joshua J, DiMaggio, Thomas, Matthews, Helen F, Jones, Nina, Stone, Kelly D, Palma, Alejandro, Oleastro, Matías, Prieto, Emma, Bernasconi, Andrea R, Dubra, Geronimo, Danielian, Silvia, Zaiat, Jonathan, Marti, Marcelo A, Kim, Brian, Cooper, Megan A, Romberg, Neil D, Meffre, Eric, Gelfand, Erwin W, Snow, Andrew L, Milner, Joshua D
Publicado 2017

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey

por Chan, Alice Y., Leiding, Jennifer W., Liu, Xuerong, Logan, Brent R., Burroughs, Lauri M., Allenspach, Eric J., Skoda-Smith, Suzanne, Uzel, Gulbu, Notarangelo, Luigi D., Slatter, Mary, Gennery, Andrew R., Smith, Angela R., Pai, Sung-Yun, Jordan, Michael B., Marsh, Rebecca A., Cowan, Morton J., Dvorak, Christopher C., Craddock, John A., Prockop, Susan E., Chandrakasan, Shanmuganathan, Kapoor, Neena, Buckley, Rebecca H., Parikh, Suhag, Chellapandian, Deepak, Oshrine, Benjamin R., Bednarski, Jeffrey J., Cooper, Megan A., Shenoy, Shalini, Davila Saldana, Blachy J., Forbes, Lisa R., Martinez, Caridad, Haddad, Elie, Shyr, David C., Chen, Karin, Sullivan, Kathleen E., Heimall, Jennifer, Wright, Nicola, Bhatia, Monica, Cuvelier, Geoffrey D. E., Goldman, Frederick D., Meyts, Isabelle, Miller, Holly K., Seidel, Markus G., Vander Lugt, Mark T., Bacchetta, Rosa, Weinacht, Katja G., Andolina, Jeffrey R., Caywood, Emi, Chong, Hey, de la Morena, Maria Teresa, Aquino, Victor M., Shereck, Evan, Walter, Jolan E., Dorsey, Morna J., Seroogy, Christine M., Griffith, Linda M., Kohn, Donald B., Puck, Jennifer M., Pulsipher, Michael A., Torgerson, Troy R.
Publicado 2020

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

por Matuozzo, Daniela, Talouarn, Estelle, Marchal, Astrid, Zhang, Peng, Manry, Jeremy, Seeleuthner, Yoann, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Barzaghi, Federica, Abolhassani, Hassan, Abou Tayoun, Ahmad, Aiuti, Alessandro, Alavi Darazam, Ilad, Allende, Luis M., Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bergman, Peter, Bondesan, Simone, Bryceson, Yenan T., Bustos, Ingrid G., Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobran, Roger, Condino-Neto, Antonio, Covill, Laura E., Delmonte, Ottavia M., El Zein, Loubna, Flores, Carlos, Gregersen, Peter K., Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, Martinez-Picado, Javier, Metin Akcan, Ozge, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Martin-Nalda, Andrea, Novelli, Giuseppe, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, Laura, Pleguezuelo, Daniel E., Prando, Carolina, Pujol, Aurora, Reyes, Luis Felipe, Rivière, Jacques G., Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Schlüter, Agatha, Shahrooei, Mohammad, Sobh, Ali, Soler-Palacin, Pere, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M., Baris-Feldman, Hagit, Butte, Manish J., Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Fellay, Jacques, Heath, James R., Lau, Yu-Lung, Lifton, Richard P., Maniatis, Tom, Mogensen, Trine H., von Bernuth, Horst, Lermine, Alban, Vidaud, Michel, Boland, Anne, Deleuze, Jean-François, Nussbaum, Robert, Kahn-Kirby, Amanda, Mentre, France, Tubiana, Sarah, Gorochov, Guy, Tubach, Florence, Hausfater, Pierre, Meyts, Isabelle, Zhang, Shen-Ying, Puel, Anne, Notarangelo, Luigi D., Boisson-Dupuis, Stephanie, Su, Helen C., Boisson, Bertrand, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Zhang, Qian, Abel, Laurent, Cobat, Aurélie
Publicado 2023