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1. Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development

Author

Mustillo, Peter J., Sullivan, Kathleen E., Chinn, Ivan K., Notarangelo, Luigi D., Haddad, Elie, Davies, E. Graham, de la Morena, Maria Teresa, Hartog, Nicholas, Yu, Joyce E., Hernandez-Trujillo, Vivian P., Ip, Winnie, Franco, Jose, Gambineri, Eleonora, Hickey, Scott E., Varga, Elizabeth, and Markert, M. Louise

Published
2024
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2. Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development

Author

Mustillo, Peter J., Sullivan, Kathleen E., Chinn, Ivan K., Notarangelo, Luigi D., Haddad, Elie, Davies, E. Graham, de la Morena, Maria Teresa, Hartog, Nicholas, Yu, Joyce E., Hernandez-Trujillo, Vivian P., Ip, Winnie, Franco, Jose, Gambineri, Eleonora, Hickey, Scott E., Varga, Elizabeth, and Markert, M. Louise

Published
2023
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3. 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
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4. Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency

Author

Bifsha, Panojot, Leiding, Jennifer W, Pai, Sung-Yun, Colamartino, Aurelien BL, Hartog, Nicholas, Church, Joseph A, Oshrine, Benjamin R, Puck, Jennifer M, Markert, M Louise, and Haddad, Elie

Subjects
Clinical Research, Stem Cell Research - Nonembryonic - Human, Stem Cell Research, Agammaglobulinemia, Animals, Mice, Mice, SCID, Severe Combined Immunodeficiency
Abstract

3D organoid T-cell differentiation from a few hundred peripheral blood CD34+ cells was successfully achieved. 3D organoid T-cell differentiation could help physicians distinguish intrinsic from extrinsic defects underlying a clinical SCID phenotype.

Published
2020

5. 29 Safety and feasibility of the use of dual cardiac-thymus transplant in a child with cardiac failure requiring heart transplant

Author

Phillips, Michael, primary, McCarthy, Elizabeth, additional, Carboni, Michael, additional, Kang, Lillian, additional, Markert, M Louise, additional, Kurtzberg, Joanner, additional, Shaz, Beth, additional, Venturi, Guglielmo, additional, Rice, Henry, additional, Sleasman, John, additional, and Turek, Joseph, additional

Published
2024
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8. Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.

Author

Amatuni, George S, Currier, Robert J, Church, Joseph A, Bishop, Tracey, Grimbacher, Elena, Nguyen, Alan Anh-Chuong, Agarwal-Hashmi, Rajni, Aznar, Constantino P, Butte, Manish J, Cowan, Morton J, Dorsey, Morna J, Dvorak, Christopher C, Kapoor, Neena, Kohn, Donald B, Markert, M Louise, Moore, Theodore B, Naides, Stanley J, Sciortino, Stanley, Feuchtbaum, Lisa, Koupaei, Rasoul A, and Puck, Jennifer M

Subjects
T-Lymphocytes, Humans, Lymphopenia, Severe Combined Immunodeficiency, Neonatal Screening, Infant, Newborn, California, Female, Male, Dried Blood Spot Testing, Rare Diseases, Infant Mortality, Perinatal Period - Conditions Originating in Perinatal Period, Clinical Research, Genetic Testing, Pediatric, Prevention, Genetics, Inflammatory and immune system, Reproductive health and childbirth, Medical and Health Sciences, Psychology and Cognitive Sciences, Pediatrics
Abstract

Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had DNA from dried blood spots assayed for T-cell receptor excision circles (TRECs). Abnormal TREC results were followed-up with liquid blood testing for T-cell abnormalities. We report the performance of the SCID screening program and the outcomes of infants who were identified. Data that were reviewed and analyzed included demographics, nursery summaries, TREC and lymphocyte flow-cytometry values, and available follow-up, including clinical and genetic diagnoses, treatments, and outcomes. Infants with clinically significant T-cell lymphopenia (TCL) were successfully identified at a rate of 1 in 15 300 births. Of these, 50 cases of SCID, or 1 in 65 000 births (95% confidence interval 1 in 51 000-1 in 90 000) were found. Prompt treatment led to 94% survival. Infants with non-SCID TCL were also identified, diagnosed and managed, including 4 with complete DiGeorge syndrome who received thymus transplants. Although no cases of typical SCID are known to have been missed, 2 infants with delayed-onset leaky SCID had normal neonatal TREC screens but came to clinical attention at 7 and 23 months of age. Population-based TREC testing, although unable to detect immune defects in which T cells are present at birth, is effective for identifying SCID and clinically important TCL with high sensitivity and specificity. The experience in California supports the rapid, widespread adoption of SCID newborn screening.

Published
2019

9. Staging Nature in Twentieth-Century Teacher Education and Classrooms

Author

Degler, W., Juen, A., Klinger, K., and Markert, M.

Abstract

At the end of the nineteenth century, biology as an academic discipline was as young as its corresponding school subject. Now nature itself was analysed as a complex (eco)system consisting of animals, plants, and man. The dramatic conceptual shift and subsequent development of school curricula called for teaching aids representing the new perspective on nature. The paper uses the different types of teaching aids as "index fossils" (Andreas Ludwig) of a specific material culture of education. Thereby we follow a central organising element of contemporary educational concepts around 1900: we will place the teaching aids on a continuum, reaching from "almost real" representations by taxidermists, to abstract schematics on wallcharts, or to wild life in moving pictures to describe and reflect powerful and lasting forms of vividness representing nature.

Published
2020
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11. FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans

Author

Du, Qiumei, Huynh, Larry K., Coskun, Fatma, Molina, Erika, King, Matthew A., Raj, Prithvi, Khan, Shaheen, Dozmorov, Igor, Seroogy, Christine M., Wysocki, Christian A., Padron, Grace T., Yates, Tyler R., Markert, M. Louise, de la Morena, M. Teresa, and van Oers, Nicolai S.C.

Subjects
Thermo Fisher Scientific Inc., Cell differentiation -- Analysis -- Genetic aspects, Transcription (Genetics) -- Analysis -- Genetic aspects, Scientific equipment industry -- Analysis -- Genetic aspects, T cells -- Analysis -- Genetic aspects, DNA, Technology, Health care industry
Abstract

We report on 2 patients with compound heterozygous mutations in forkhead box N1 (FOXN1), a transcription factor essential for thymic epithelial cell (TEC) differentiation. TECs are critical for T cell development. Both patients had a presentation consistent with [T.sup.-/lo][B.sup.+][NK.sup.+] SCID, with normal hair and nails, distinct from the classic nude/SCID phenotype in individuals with autosomal-recessive FOXN1 mutations. To understand the basis of this phenotype and the effects of the mutations on FOXN1, we generated mice using CRISPR-Cas9 technology to genocopy mutations in 1 of the patients. The mice with the Foxn1 compound heterozygous mutations had thymic hypoplasia, causing a [T.sup.-][B.sup.+][NK.sup.+] SCID phenotype, whereas the hair and nails of these mice were normal. Characterization of the functional changes due to the Foxn1 mutations revealed a 5-amino acid segment at the end of the DNA-binding domain essential for the development of TECs but not keratinocytes. The transcriptional activity of this Foxn1 mutant was partly retained, indicating a region that specifies TEC functions. Analysis of an additional 9 FOXN1 mutations identified in multiple unrelated patients revealed distinct functional consequences contingent on the impact of the mutation on the DNA-binding and transactivation domains of FOXN1., Introduction The development of T cells expressing T cell receptors (TCRs) bearing a precise specificity for peptides embedded in self-HLA (MHC) molecules occurs in the thymus. At this site, T [...]

Published
2019
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12. 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
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13. Value For Money In The Treatment Of Patients With Type 2 Diabetes Mellitus: Assessing The Long-Term Cost-Effectiveness Of IDegLira Versus iGlarLixi In Italy

Author

Pöhlmann J, Montagnoli R, Lastoria G, Parekh W, Markert M, and Hunt B

Subjects
Cost-effectiveness, Fixed-ratio combination, IDegLira, iGlarLixi, Italy, Type 2 diabetes, Medicine (General), R5-920, Therapeutics. Pharmacology, RM1-950
Abstract

Johannes Pöhlmann,1 Roberta Montagnoli,2 Giusi Lastoria,3 Witesh Parekh,4 Marie Markert,5 Barnaby Hunt1 1Health Economics, Ossian Health Economics and Communications, Basel 4051, Switzerland; 2External Affairs-Region Europe, Novo Nordisk SpA, Rome IT00144, Italy; 3Medical Advice, Novo Nordisk SpA, Rome IT00144, Italy; 4European HEOR, Nova Nordisk Ltd, West Sussex RH6 0PA, UK; 5Global Market Access, Novo Nordisk A/S, Søborg DK-2860, DenmarkCorrespondence: Barnaby HuntHealth Economics, Ossian Health Economics and Communications GmbH, Bäumleingasse 20, Basel CH-4051, SwitzerlandTel +41 61 271 6214Email hunt@ossianconsulting.comObjective: Italian treatment guidelines for type 2 diabetes mellitus (T2DM) target good glycemic control but acknowledge the associated risk of hypoglycemia. Unlike traditional antidiabetic therapies, modern treatment options such as fixed-ratio combinations of basal insulin and glucagon-like peptide 1 receptor agonists are associated with improved glycemic control, reduced body weight and low risk of hypoglycemia. The cost-effectiveness of the fixed-ratio combinations of basal insulin and glucagon-like peptide 1 receptor agonists IDegLira and iGlarLixi was assessed for Italy in patients with T2DM uncontrolled on basal insulin, to evaluate how short-term clinical benefits translate into long-term health economic outcomes.Methods: The IQVIA CORE Diabetes Model was used to project clinical and economic outcomes over patient lifetimes. Treatment effects were sourced from an indirect treatment comparison. The analysis captured direct medical costs (expressed in 2017 Euros) from the perspective of the Italian National Health Service (NHS) and patient-related quality of life. Sensitivity analyses were performed.Results: IDegLira was associated with gains of 0.09 life years and 0.13 quality-adjusted life years (QALYs) relative to iGlarLixi, due to a lower cumulative incidence and delayed onset of diabetes-related complications. IDegLira was associated with an incremental cost of EUR 930 over patient lifetimes, leading to an incremental cost-effectiveness ratio of EUR 7,386 per QALY gained.Conclusion: Over the lifetime of patients with T2DM uncontrolled on basal insulin, IDegLira was associated with improved clinical outcomes at higher costs relative to iGlarLixi. At a willingness-to-pay threshold of EUR 30,000 per QALY gained, IDegLira was considered to be cost-effective versus iGlarLixi from the perspective of the Italian NHS.Keywords: cost-effectiveness, fixed-ratio combination, IDegLira, iGlarLixi, Italy, type 2 diabetes

Published
2019

15. Contributors

Author

Abers, Michael S., primary, Babushok, Daria V., additional, Ballow, Mark, additional, Boisson, Bertrand, additional, Bonagura, Vincent Robert, additional, Bonilla, Francisco A., additional, Bosco de Oliveira Filho, João, additional, Boztug, Kaan, additional, Broderick, Lori, additional, Butte, Manish J., additional, Candotti, Fabio, additional, Casanova, Jean-Laurent, additional, Chandrakasan, Shanmuganathan, additional, Condino-Neto, Antonio, additional, Crow, Yanick J., additional, Cunningham-Rundles, Charlotte, additional, Dalm, Virgil A.S.H., additional, de Jesus, Adriana A., additional, de Maio, Emma, additional, de Saint Basile, Geneviève, additional, de Vries, Esther, additional, Dokal, Inderjeet, additional, Duncan, Christopher J.A., additional, Durandy, A., additional, Ehl, Stephan, additional, Etzioni, Amos, additional, Ferguson, Polly J., additional, Fleisher, Thomas A., additional, Forbes-Satter, Lisa R., additional, Frank, Michael M., additional, Freeman, Alexandra F., additional, Frémond, Marie-Louise, additional, Frew, John W., additional, Fusaro, Mathieu, additional, Gambineri, Eleonora, additional, Ganetzky, Rebecca D., additional, Gennery, Andrew R., additional, Goldbach-Mansky, Raphaela, additional, Goldstein, Amy C., additional, Graham, John M., additional, Gupton, Stephanie E., additional, Haddad, Elie, additional, Hambleton, Sophie, additional, Hanson, Eric P., additional, Heimall, Jennifer, additional, Helfrich, Miep, additional, Henrickson, Sarah E., additional, Holland, Steven M., additional, Hsu, Amy P., additional, Jyonouchi, Soma, additional, Kashef, Sara, additional, Kelsen, Judith, additional, Khalil, Maya, additional, Klein, Christoph, additional, Kobrynski, Lisa, additional, Kohn, Donald B., additional, Kracker, S., additional, Krueger, James G., additional, Lavoie, Pascal M., additional, Lehman, Heather K., additional, Leiding, Jennifer W., additional, Lenardo, Michael J., additional, Levy, Ofer, additional, Lim, Allison Pecha, additional, Lionakis, Michail S., additional, Lisco, Andrea, additional, Lougaris, Vassilios, additional, Lugo Reyes, Saul O., additional, Markert, M. Louise, additional, Marsh, Rebecca A., additional, McCarthy, Elizabeth A., additional, Meyts, Isabelle, additional, Milito, Cinzia, additional, Milner, Joshua D., additional, Ming, Jeffrey E., additional, Moshous, Despina, additional, Müller, Ludmila, additional, Navrazhina, Kristina, additional, Nichols, Kim E., additional, Notarangelo, Luigi D., additional, Oksenhendler, Eric, additional, Orange, Jordan S., additional, Paganelli, Roberto, additional, Pawelec, Graham, additional, Pentimalli, Tancredi Massimo, additional, Perez, Elena E., additional, Picard, Capucine, additional, Plebani, Alessandro, additional, Porras, Oscar, additional, Przespolewski, Amanda C., additional, Puel, Anne, additional, Pulvirenti, Federica, additional, Quinti, Isabella, additional, Rezaei, Nima, additional, Rijkers, Ger T., additional, Rosenthal, David Walter, additional, Rosenzweig, Sergio D., additional, Segal, Brahm H., additional, Seppänen, Mikko R.J., additional, Sereti, Irini, additional, Shcherbina, Anna, additional, Sobacchi, Cristina, additional, Squire, Jacqueline D., additional, Stepensky, Polina, additional, Su, Helen C., additional, Sullivan, Kathleen E., additional, Torgerson, Troy R., additional, Uzel, Gulbu, additional, van der Burg, Mirjam, additional, Villa, Anna, additional, Villartay, Jean-Pierre de, additional, Warnatz, Klaus, additional, Wasserman, Richard L., additional, Weemaes, Corry M.R., additional, Yu, Joyce E., additional, Zhang, Shen-Ying, additional, and Ziegler, John B., additional

Published
2020
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19. 1573P Developing a patient-related predictive model for the occurrence of CINV (NOGGO-EMRISK trial): Prospective, multicentre study in Germany

Author

Sehouli, J., primary, Oskay-Öczelik, G., additional, Zocholl, D., additional, Klemt, A-S., additional, Bangemann, N., additional, Albrecht, O., additional, Strittmatter, H-J., additional, Wimberger, P., additional, Kaczerowsky, A., additional, Lorenz, R., additional, Ruhwedel, W., additional, Fehm, T.N., additional, Zahn, A., additional, Tome, O., additional, Markert, M., additional, Hager, D., additional, Zorr, A., additional, Keller, M., additional, Rittmeister, H., additional, and Grabowski, J.P., additional

Published
2022
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21. Thymus Transplantation

Author

Markert, M. Louise, Devlin, Blythe H., McCarthy, Elizabeth A., Chinn, Ivan K., Hale, Laura P., Lavini, Corrado, editor, Moran, Cesar A., editor, Morandi, Uliano, editor, and Schoenhuber, Rudolf, editor

Published
2008
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37. List of Contributors

Author

Ballow, Mark, primary, Barbouche, Mohamed-Ridha, additional, Bonagura, Vincent R., additional, Bonilla, Francisco A., additional, Browne, Sarah K., additional, Candotti, Fabio, additional, Carneiro-Sampaio, Magda, additional, Chatila, Talal A., additional, Crow, Yanick J., additional, Cunningham-Rundles, Charlotte, additional, de Diego, Rebeca Pérez, additional, de Jesus, Adriana A., additional, de Saint Basile, Geneviève, additional, de Vries, Esther, additional, Dokal, Inderjeet, additional, Durandy, Anne, additional, Ehl, Stephan, additional, Eisenberg, Robert, additional, Eley, Brian, additional, Etzioni, Amos, additional, Ferguson, Polly J., additional, Fleisher, Thomas A., additional, Frank, Michael M., additional, Freeman, Alexandra F., additional, Gambineri, Eleonora, additional, Gathmann, Benjamin, additional, Geha, Raif S., additional, Gennery, Andrew R., additional, Glocker, Erik-Oliver, additional, Goldbach-Mansky, Raphaela, additional, Graham, John M., additional, Grimbacher, Bodo, additional, Haddad, Elie, additional, Hambleton, Sophie, additional, Hanna, Suheir, additional, Holland, Steven M., additional, de Villartay, Jean-Pierre, additional, Kashef, Sara, additional, Klein, Christoph, additional, Kohn, Donald B., additional, Kracker, Sven, additional, Lau, Yu-Lung, additional, Lee, Pamela, additional, Lehman, Heather, additional, Leiding, Jennifer W., additional, Leiva, Lily E., additional, Lenardo, Michael J., additional, Levinson, Arnold I., additional, Lin, Robert Y., additional, Lougaris, Vassilios, additional, Markert, M. Louise, additional, Marsh, Rebecca A., additional, Maródi, László, additional, McDermott, David H., additional, McDonald, Douglas R., additional, McGeady, Stephen J., additional, Milner, Joshua D., additional, Ming, Jeffrey E., additional, Moshous, Despina, additional, Müller, Ludmila, additional, Nichols, Kim E., additional, Notarangelo, Luigi D., additional, Ochs, Hans, additional, Oliveira, João Bosco, additional, Orange, Jordan S., additional, Paganelli, Roberto, additional, Pawelec, Graham, additional, Perez, Elena E., additional, Plebani, Alessandro, additional, Porras, Oscar, additional, Puck, Jennifer M., additional, Quinti, Isabella, additional, Rezaei, Nima, additional, Rodríguez-Gallego, Carlos, additional, Rosenzweig, Sergio D., additional, Routes, John M., additional, Sereti, Irini, additional, Sorensen, Ricardo U., additional, Speckmann, Carsten, additional, Su, Helen C., additional, Sullivan, Kathleen E., additional, de la Morena, M. Teresa, additional, Torgerson, Troy, additional, Treat, James, additional, van der Burg, Mirjam, additional, van der Maarel, Silvère M., additional, Verbsky, James W., additional, Villa, Anna, additional, Warnatz, Klaus, additional, Weemaes, Corry M.R., additional, Yarmohammadi, Hale, additional, Yu, Joyce E., additional, Ziegler, John B., additional, and Zola, Heddy, additional

Published
2014
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46. Contributors

Author

Akira, Shizuo, primary, Anguita, Juan, additional, Anstead, Gregory M., additional, Aranow, Cynthia, additional, Austin, Howard A., additional, Babu, Subash, additional, Baker, James R., additional, Baliga, Christopher S., additional, Ballow, Mark, additional, Balow, James E., additional, Bardana, Emil J., additional, Becker, Matthias D., additional, Belmont, John W., additional, Ben-Yehuda, Dina, additional, Berek, Claudia, additional, Bieber, Thomas, additional, Bijlsma, Johannes W.J., additional, Bleesing, Jack J.H., additional, Blutt, Sarah E., additional, Borzova, Elena, additional, Boyaka, Prosper N., additional, Brockow, Knut, additional, Budd, Ralph C., additional, Buttgereit, Frank, additional, Calder, Virginia L., additional, Candotti, Fabio, additional, Carotta, Sebastian, additional, Casanova, Jean-Laurent, additional, Cascalho, Marilia, additional, Chan, Edwin S.L., additional, Chinen, Javier, additional, Cho, Monique E., additional, Christopher-Stine, Lisa, additional, Collins, Helen L., additional, Cope, Andrew P., additional, Cortese, Irene, additional, Cronstein, Bruce N., additional, Custovic, Adnan, additional, Dalakas, Marinos C., additional, Devlin, Blythe H., additional, Diamond, Betty, additional, Dispenzieri, Angela, additional, Drenth, Joost P.H., additional, Du Clos, Terry W., additional, Dykewicz, Mark S., additional, Eagar, Todd N., additional, Eisenbarth, George S., additional, Elson, Charles O., additional, Erkan, Doruk, additional, Feinberg, Mark, additional, Fikrig, Erol, additional, Fischer, Alain, additional, Fleisher, Thomas A., additional, Fontenot, Andrew P., additional, Fortner, Karen A., additional, Frew, Anthony J., additional, Friedman, Thea M., additional, Fujihashi, Kohtaro, additional, Galli, Stephen J., additional, Gatt, Moshe E., additional, Gershwin, M. Eric, additional, Goronzy, Jörg J., additional, Grattan, Clive E.H., additional, Greenspan, Neil S., additional, Grubeck-Loebenstein, Beatrix, additional, Haeberli, Gabrielle, additional, Hall, Russell P., additional, Hamilton, Robert G., additional, Harriman, Gregory R., additional, Hassan, Khaled M., additional, Helbling, Arthur, additional, Hellmann, David B., additional, Hernandez-Trujillo, Vivian, additional, Hingorani, Melanie, additional, Holland, Steven M., additional, Homburger, Henry A., additional, Horne, McDonald, additional, Illei, Gabor, additional, Imboden, John, additional, Ishii, Ken J., additional, Izraeli, Shai, additional, Jaffe, Elaine S., additional, Jalkanen, Sirpa, additional, June, Carl H., additional, Kahan, Barry D., additional, Kallies, Axel, additional, Kaufmann, Stefan H.E., additional, Kavanaugh, Arthur F., additional, Koretzky, Gary, additional, Korngold, Robert, additional, Kovaiou, Rania D., additional, Kuhns, Douglas B., additional, Kurlander, Roger, additional, Kyle, Robert A., additional, Lane, H. Clifford, additional, Laurence, Arian, additional, Le Deist, Françoise, additional, Lee, Susan J., additional, Lemery, Steven J., additional, Lenardo, Michael J., additional, Levinson, Arnold I., additional, Lewis, David B., additional, Lewis, Dorothy E., additional, Lieberman, Jay, additional, Lieberman, Phil, additional, Lightman, Sue L., additional, Lockshin, Michael D., additional, Lotze, Michael T., additional, Mackay, Meggan, additional, Maltzman, Jonathan S., additional, Manns, Michael P., additional, Mapara, Markus Y., additional, Marinho, Susana, additional, Markert, M. Louise, additional, Martini, Alberto, additional, Masters, Seth L., additional, Mazzolari, Evelina, additional, McFarland, Henry F., additional, McGhee, Jerry R., additional, McKenna, Frank, additional, Melby, Peter C., additional, Metcalfe, Dean D., additional, Metz, Martin, additional, Mican, Joann M., additional, Miller, Stephen D., additional, Mold, Carolyn, additional, Moller, David R., additional, Montanaro, Anthony, additional, Mueller, Scott N., additional, Müller, Ulrich R., additional, Murphy, Philip M., additional, Noel, Pierre, additional, Notarangelo, Luigi D., additional, Nutman, Thomas B., additional, Nutt, Stephen L., additional, Bosco de Oliveira, João, additional, Oliver, Stephen N., additional, Olson, Chris M., additional, O'shea, John, additional, Paul, Mary E., additional, Peterson, Erik J., additional, Picard, Capucine, additional, Pichler, Werner J., additional, Pillemer, Stanley R., additional, Pittaluga, Stefania, additional, Platt, Jeffrey L., additional, Plotz, Paul H., additional, Radbruch, Andreas, additional, Ravelli, Angelo, additional, Reveille, John D., additional, Rich, Robert R., additional, Rick, Margaret E., additional, Risma, Kimberly A., additional, Rodgers, John R., additional, Rosen, Antony, additional, Rosenbaum, James T., additional, Rothenberg, Marc E., additional, Rouse, Barry T., additional, Rowley, Scott, additional, Rudelius, Martina, additional, Sakaguchi, Shimon, additional, Salmi, Marko, additional, Schaible, Ulrich E., additional, Schroeder, Harry W., additional, Schwarz, Marvin I., additional, Seibel, Markus J.H., additional, Selmi, Carlo, additional, Shafer, William M., additional, Shah, Prediman K., additional, Shahbaz-Samavi, Maryam, additional, Shaw, Alan R., additional, Shearer, William T., additional, Sicherer, Scott H., additional, Siegel, Richard, additional, Jit Singh, Ravinder, additional, Smith, Justine R., additional, Smith, Phillip D., additional, Sneller, Michael C., additional, Steinke, John W., additional, Stephens, David S., additional, Stone, John H., additional, Su, Helen C., additional, Tato, Cristina M., additional, Torres, Raul M., additional, Uzel, Gülbû, additional, van der Hilst, Jeroen C.H., additional, van der Meer, Jos W.M., additional, Varga, John, additional, Villadangos, José A., additional, Wang, Su He, additional, Weinberger, Birgit, additional, Weller, Peter F., additional, Weyand, Cornelia M., additional, Wigley, Fredrick M., additional, Winchester, Robert J., additional, Wing, Kajsa, additional, Young, Louise J., additional, and Zuo, Li, additional

Published
2008
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