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Mary Louise Markert, PhD, MD

Professor of Pediatrics
Professor of Immunology
Member of the Duke Cancer Institute
Campus mail: Box 3068 Med Ctr, Durham, NC 27710
Phone: (919) 684-6263
Email address: marke001@mc.duke.edu

Dr. Markert is currently investigating thymus transplantation in complete DiGeorge syndrome. Complete DiGeorge syndrome is a fatal genetic disorder in which patients have heart defects, severe parathyroid hypoplasia and absence of the thymus. In a research protocol complete DiGeorge patients who have no T cells are transplanted with postnatal cultured human thymic epithelial tissue. The transplants are later biopsied to evaluate whether host stem cells have migrated to the tranplanted tissue and developed into T cells. Seventy nine infants with complete DiGeorge anomaly have been transplanted and 56 survive (71%). Her research to date has shown that the patient can develop new recipient T cells in the graft and normal T cell proliferative responses to mitogens and antigens. Thus, in infants born with no T cells because of DiGeorge syndrome, cultured donor postnatal thymic tissue is sufficient for the development of recipient T cells from recipient stem cells. Dr. Markert is now studying patients previously transplanted to learn how long the thymus functions and why the T cell numbers in her post thymus transplantation patients remain low for age - similar to the T cell numbers in patients with partial DiGeorge anomaly who do not need thymus transplantation. In 2012, Dr. Markert began studies in an animal model to use thymus transplantatin to induce tolerance to solid organ transplants. This work was funded by The Hartwell Foundation and is continuing under internal funding.

Education and Training

  • M.D., Duke University, 1982
  • Ph.D., Duke University, 1981

Selected Grants and Awards

Publications

Du, Qiumei, Larry K. Huynh, Fatma Coskun, Erika Molina, Matthew A. King, Prithvi Raj, Shaheen Khan, et al. “FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans.” J Clin Invest 129, no. 11 (November 1, 2019): 4724–38. https://doi.org/10.1172/JCI127565.

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Amatuni, George S., Robert J. Currier, Joseph A. Church, Tracey Bishop, Elena Grimbacher, Alan Anh-Chuong Nguyen, Rajni Agarwal-Hashmi, et al. “Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.” Pediatrics 143, no. 2 (February 2019). https://doi.org/10.1542/peds.2018-2300.

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Liu, Ning, Kelly Schoch, Xi Luo, Loren D. M. Pena, Venkata Hemanjani Bhavana, Mary K. Kukolich, Sarah Stringer, et al. “Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.” Hum Mol Genet 27, no. 14 (July 15, 2018): 2454–65. https://doi.org/10.1093/hmg/ddy146.

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Davies, E Graham, Melissa Cheung, Kimberly Gilmour, Jesmeen Maimaris, Joe Curry, Anna Furmanski, Neil Sebire, et al. “Thymus transplantation for complete DiGeorge syndrome: European experience.” J Allergy Clin Immunol 140, no. 6 (December 2017): 1660-1670.e16. https://doi.org/10.1016/j.jaci.2017.03.020.

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Stone, Cosby A., Mary Louise Markert, Roshini S. Abraham, and Allison Norton. “A case of atypical, complete DiGeorge syndrome without 22q11 mutation.” Ann Allergy Asthma Immunol 118, no. 5 (May 2017): 640-642.e2. https://doi.org/10.1016/j.anai.2017.02.025.

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Yin, Suellen Moli, Ronald M. Ferdman, Larry Wang, M Louise Markert, and Jonathan S. Tam. “Disseminated Mycobacterium kansasii disease in complete DiGeorge syndrome.” J Clin Immunol 35, no. 5 (July 2015): 435–38. https://doi.org/10.1007/s10875-015-0171-3.

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Agada, Noah O., Suellen M. Yin, Jonathan S. Tam, Matthew S. Kelly, and M Louise Markert. “Disseminated Atypical Mycobacterial Infection in Three Patients with Complete Digeorge Anomaly.” In Journal of Allergy and Clinical Immunology, 135:AB10–AB10. Elsevier BV, 2015. https://doi.org/10.1016/j.jaci.2014.12.968.

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Rendell, Victoria R., Charles Giamberardino, Jie Li, M Louise Markert, and Todd V. Brennan. “Complete thymectomy in adult rats with non-invasive endotracheal intubation.” J Vis Exp, no. 94 (December 29, 2014). https://doi.org/10.3791/52152.

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Lee, Jan Hau, M Louise Markert, Christoph P. Hornik, Elizabeth A. McCarthy, Stephanie E. Gupton, Ira M. Cheifetz, and David A. Turner. “Clinical course and outcome predictors of critically ill infants with complete DiGeorge anomaly following thymus transplantation.” Pediatr Crit Care Med 15, no. 7 (September 2014): e321–26. https://doi.org/10.1097/PCC.0000000000000219.

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Markert, M. L. “Defects in Thymic Development: DiGeorge/CHARGE/Chromosome 22q11.2 Deletion.” In Stiehm’s Immune Deficiencies, 221–42, 2014. https://doi.org/10.1016/B978-0-12-405546-9.00008-X.

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