Novel p.K374E variant of CPA1 causes misfolding-induced hereditary pancreatitis with autosomal dominant inheritance von Németh, Balázs Csaba, Orekhova, Anna, Zhang, Wenying, Nortman, Shannon A, Thompson, Tyler, Hegyi, Péter, Abu-El-Haija, Maisam

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The novel c.1120A>G (p.K374E) variant of the CPA1 gene cause misfolding-induced hereditary pancreatitis von Németh, Balázs, Orekhova, Anna, Zhang, Wenying, Nortman, Shannon A., Thomson, Tyler, Hegyi, Peter, Abu-El-Haija, Maisam

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Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy von Lo, Bernice, Zhang, Kejian, Lu, Wei, Zheng, Lixin, Zhang, Qian, Kanellopoulou, Chrysi, Zhang, Yu, Liu, Zhiduo, Fritz, Jill M., Marsh, Rebecca, Husami, Ammar, Kissell, Diane, Nortman, Shannon, Chaturvedi, Vijaya, Haines, Hilary, Young, Lisa R., Mo, Jun, Filipovich, Alexandra H., Bleesing, Jack J., Mustillo, Peter, Stephens, Michael, Rueda, Cesar M., Chougnet, Claire A., Hoebe, Kasper, McElwee, Joshua, Hughes, Jason D., Karakoc-Aydiner, Elif, Matthews, Helen F., Price, Susan, Su, Helen C., Rao, V. Koneti, Lenardo, Michael J., Jordan, Michael B.

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Congenital dyserythropoietic anaemia type I diagnosed in a young adult with a history of splenectomy in childhood for presumed haemolytic anaemia von Chonat, Satheesh, McLemore, Morgan L., Bunting, Silvia T., Nortman, Shannon, Zhang, Kejian, Kalfa, Theodosia A.

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VPS4A mutations Cause a Syndrome with Dyserythropoiesis, Hemolytic Anemia, and Neurodevelopmental Delay von Giger Seu, Katie, Trump, Lisa, Emberesh, Sana, Lorsbach, Robert B., Johnson, Clarissa E., Meznarich, Jessica, Underhill, Hunter, Sakthivel, Haripriya, Niss, Omar, Nortman, Shannon, Blanc, Lionel, Zhang, Wenying, Lutzko, Carolyn, Kalfa, Theodosia A.

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Genotype-Directed Dosing Leads to Optimized Voriconazole Levels in Pediatric Patients Receiving Hematopoietic Stem Cell Transplantation von Teusink, Ashley, Vinks, Alexander, Zhang, Kejian, Davies, Stella, Fukuda, Tsuyoshi, Lane, Adam, Nortman, Shannon, Kissell, Diane, Dell, Sarah, Filipovich, Alexandra, Mehta, Parinda

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AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy von Lo, Bernice, Zhang, Kejian, Lu, Wei, Zheng, Lixin, Zhang, Qian, Kanellopoulou, Chrysi, Zhang, Yu, Liu, Zhiduo, Fritz, Jill M, Marsh, Rebecca, Husami, Ammar, Kissell, Diane, Nortman, Shannon, Chaturvedi, Vijaya, Haines, Hilary, Young, Lisa R, Mo, Jun, Filipovich, Alexandra H, Bleesing, Jack J, Mustillo, Peter, Stephens, Michael, Rueda, Cesar M, Chougnet, Claire A, Hoebe, Kasper, McElwee, Joshua, Hughes, Jason D, Karakoc-Aydiner, Elif, Matthews, Helen F, Price, Susan, Su, Helen C, Rao, V Koneti, Lenardo, Michael J, Jordan, Michael B

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Impact of Pharmacogenetics and Therapeutic Drug Monitoring On Optimizing Voriconazole Dosing in Pediatric Patients Undergoing Hematopoietic Cell Transplantation von Teusink, Ashley, Vinks, Alexander, Zhang, Kejian, Davies, Stella, Filipovich, Lisa, Fukuda, Tsuyoshi, Nortman, Shannon, Kissell, Diane, Dell, Sarah, Rhollans, Lindsay, Mehta, Parinda A

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The Genetic Fingerprint of Susceptibility to Transplant Associated Thrombotic Microangiopathy von Jodele, Sonata, MD, Laskin, Benjamin, MD, MS, Zhang, Kejian, MD, MBA, Zou, Fanggeng, MD, Dandoy, Christopher E., MD, MSc, Myers, Kasiani C., MD, El-Bietar, Javier, MD, Wallace, Gregory, DO, Grimley, Michael S., MD, Bleesing, Jack, MD, PhD, Goebel, Jens, MD, Kissell, Diane, Nortman, Shannon, Lane, Adam, PhD, Davies, Stella M., MBBS, PhD

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