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Peter JG, Lehloenya R, Dlamini S, Risma K, White KD, Konvinse KC, Phillips EJ. Severe delayed cutaneous and systemic reactions to drugs: a global perspective on the science and art of current practice. J Allergy Clin Immunol Pract. 2017 May-Jun;5(3):547-563.

Tiwari S, Hontz A, Terrell CE, Arumugam P, Carmo M, Risma K, Jordan M, Malik P. High level of perforin expression is required for effective correction of hemophagocytic lymphohistiocytosis. Hum Gene Ther. 27(10):847-859. 2016.

Lindsley AW, Saal HM, Burrow TA, Hopkin RJ, Shchelochkov O, Khandelwal P, Xie C, Bleesing J, Filipovich L, Risma K, Assa'ad AH, Roehrs PA, Bernstein JA. Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. J Allergy Clin Immunol. 137(1):179-87.e10. 2016.

Puri K, Kocoshis S, Risma K, Perez L, Hart C, Chin C, Ryan TD, Jefferies JL, Schumacher KR, Castleberry C. Basiliximab treatment for autoimmune bowel disease in a pediatric heart transplant patient. Pediatr Transplant. 19(7):E165-9. 2015.

Vrazo AC, Hontz AE, Figueira SK, Butler BL, Ferrell JM, Binkowski BF, Li J, Risma KA. Live cell evaluation of granzyme delivery and death receptor signaling in tumor cells targeted by human natural killer cells. Blood. 126(8):e1-10. 2015.

Carmo M, Risma KA, Arumugam P, Tiwari S, Hontz AE, Montiel-Equihua CA, Alonso-Ferrero ME, Blundell MP, Schambach A, Baum C, Malik P, Thrasher AJ, Jordan MB, Gaspar HB. Perforin gene transfer into hematopoietic stem cells improves immune dysregulation in murine models of perforin deficiency. Mol Ther. 23(4):737-45. 2015.

Li J, Figueira SK, Vrazo AC, Binkowski BF, Butler BL, Tabata Y, Filipovich A, Jordan MB, Risma KA. Real-time detection of CTL function reveals distinct patterns of caspase activation mediated by Fas versus granzyme B. J Immunol. 193(2):519-28. 2014. 

Mellor-Heineke S, Villanueva J, Jordan MB, Marsh R, Zhang K, Bleesing JJ, Filipovich AH, Risma KA. Elevated Granzyme B in Cytotoxic Lymphocytes is a Signature of Immune Activation in Hemophagocytic Lymphohistiocytosis. Front Immunol. 4:72. 2013.

Risma K, Jordan MB. Hemophagocytic lymphohistiocytosis: updates and evolving concepts. Curr Opin Pediatr. 24:9-15. 2012.

Zhang, K., Jordan, M.B., Marsh, R.A., Johnson, J.A., Kissell, D., Meller, J., Villanueva, J., Risma, K.A., Wei, Q., Klein, P.S., & Filipovich, A.H. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood. 118(22):5794-5798. 2011.

Lykens, J.E., Terrell, C.E., Zoller, E.E., Risma, K., & Jordan, M.B. Perforin is a critical physiologic regulator of T-cell activation. Blood. 118(3):618-626. 2011.

Sumegi, J., Barnes, M.G., Nestheide, S.V., Molleran-Lee, S., Villanueva, J., Zhang, K., Risma, K.A., Grom, A.A., & Filipovich, A.A. Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis. Blood. 117(15):e151-e160. 2011.


Urrea Moreno, R., Gil, J., Rodriguez-Sainz, C., Cela, E., LaFay, V., Oloizia, B., Herr, A.B., Sumegi, J., Jordan, M.B., & Risma, K.A. Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function. Blood, 113(2), 338-346. 2009.

Trizzino, A., zur Stadt, U., Ueda, I., Risma, K., Janka, G., Ishii, E., Beutel, K., Sumegi, J., Cannella, S., Pende, D., Mian, A., Henter, J.I., Griffiths, G., Santoro, A., Filipovich, A., Arico, M., & Histiocyte Society HLH Study Group. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet, 45(1), 15-21. 2008.

Zhang, K., Johnson, J.A., Biroschak, J., Villanueva, J., Lee, S.M., Bleesing, J.J., Risma, K.A., Wenstrup, R.J., & Filipovich, A.H. Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects. Int J Immunogenet, 34(4), 231-233. 2007.

Risma, K.A., Frayer, R.W., Filipovich, A.H., & Sumegi, J. Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. J Clin Invest, 116(1), 182-192. 2006.