University of Cincinnati Department of Pediatrics

Kimberly A. Risma, MD, PhD

Appointment

Assistant Professor, University of Cincinnati College of Medicine

Email

kimberly.risma@cchmc.org

Phone

513-636-6771

Fax

513-636-4615

Bio

Kimberly Risma, MD, PhD, is an Assistant Professor in the Division of Allergy/Immunology at Cincinnati Children’s and the University of Cincinnati College of Medicine.

Dr. Risma graduated magna cum laude with a Bachelor of Arts in Chemistry from Duke University in 1990 and was elected into The Phi Beta Kappa Society. She then matriculated at Case Western Reserve University (CWRU) School of Medicine in the Medical Scientist Training Program (MSTP). In 1996, she completed a PhD in pharmacology under the mentorship of Dr. John Nilson. She was selected by the leadership of the CWRU MSTP as the recipient of the 1997 Martin Wahl Memorial Fund Award, given annually to recognize the graduating MD, PhD student who has demonstrated the highest level of independence in research and excellence in research and clinical skills. She was also elected to Alpha Omega Alpha Society in 1997.

In 1997, she enrolled in a Pediatrics residency at Cincinnati Children’s Hospital Medical Center/University of Cincinnati. During the residency program, Dr. Risma excelled in teaching and was awarded the pediatric resident teaching award by the medical students. She also engaged in translational research studies related to the genetics of asthma under the mentorship of Dr. Gurjit Hershey, resulting in a first author publication as a pediatric resident.

In 2000, Dr. Risma was accepted to the Allergy/Immunology Fellowship at Cincinnati Children’s. In addition to her clinical training, she pursued an innovative research project under the mentorship of Dr. Janos Sumegi and Dr. Alexandra Filipovich. She proposed a mechanism to study the structural and functional impact of perforin missense mutations identified in patients with hemophagocytic lymphohistiocytosis. At the onset, her proposal led to a FOCIS Millenium Post Doctoral Fellowship Award in Clinical Immunology, allowing 2 years of protected time to pursue translational research. In 2004 she was awarded the Nezelof Prize for best scientific presentation at the international meeting of the Histiocyte Society. The culmination of her fellowship research project was published in the Journal of Clinical Investigation, 2006.

Upon completion of her fellowship in 2005, Dr. Risma was appointed as an Assistant Professor in the Division of Allergy and Immunology at Cincinnati Children’s Hospital Medical Center. As a new faculty member, Dr. Risma’s research was supported by the Child Health Research Career Development Award (National Institutes of Health; K12). She then obtained a 2006 Clinical Scientist Development Award from the Doris Duke Charitable Foundation and support from the American Academy of Allergy, Asthma, and Immunology in 2007. Her research program focuses on understanding the molecular mechanisms of immunodeficiency and immune dysregulation in children, especially as it relates to disorders of lymphocyte cytotoxicity. In addition to her research, she sees patients from all around the country in consultation for primary immune deficiency, immune dysregulation, and allergic disorders.

To further her research, Dr. Risma has recently been selected to receive a Schmidlapp Scholar Award from the Fifth Third Bank / Charlotte R. Schmidlapp Women Scholars Program. The $100,000 honor is given annually to a female faculty member at Cincinnati Children's. For more information please see the press release.

Credentials

MD: Case Western Reserve University School of Medicine, Cleveland, OH, 1997.

PhD: Case Western Reserve University School of Medicine, Cleveland, OH, 1996.

Residency: Pediatrics, Cincinnati Children's Hospital Medical Center, 1997-2000.

Fellowship: Allergy / Immunology, Cincinnati Children's Hospital Medical Center.

Certification: Pediatrics (2000, 2007), Allergy and Immunology (2005)

Position History

2005- Present     Assistant Professor of Pediatrics
                            Division of Allergy and Immunology
                            Cincinnati Children's Hospital Medical Center
                              University of Cincinnati College of Medicine

Awards and Honors

Fifth Third Bank/Charlotte R. Schmidlapp Women Scholars Award, 2008
AAAAI Outstanding Research in a Peer-Reviewed Journal with an Impact Factor >10 by an FIT or Junior Faculty Member Award, 2007
AAAAI/Altana Two-Year Allergy and Immunology Research Award for Advanced Fellows-in-Training (FIT) and New Faculty, 2007
Doris Duke Clinical Scientist Development Award, Doris Duke Charitable Foundation, 2006
The Nezelof Prize in Basic Science, Annual prize for the best scientific article at the Annual Histiocyte Society Meeting; Stockholm, Sweden, 2004
FOCIS/Millenium Award, Travel award/presentation at FOCIS Meeting; Paris, France, 2003
Pediatric Resident Teaching Award, Awarded by the medical students during their Pediatric Clerkship at Childrens Hospital Medical Center, Cincinnati, OH, 2000
Alpha Omega Alpha, 1997
Phi Beta Kappa, 1990

Research

Pathophysiology of perforin missense mutations identified in individuals with hemophagocytic lymphohistiocytosis

Molecular mechanisms of primary immune deficiency and dysregulation

Natural killer cell and cytotoxic T lymphocyte cytotoxicity

Publications, Most Recent

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

Zhang K, Johnson JA, Biroschak J, Villanueva J, Lee SM, Bleesing JJ, Risma KA, Wenstrup RJ, and AH Filipovich. 2007. 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):231-3.

Thomas H, Risma KA, Graham TB, Brody AS, Deutsch GH, Young LR, Joseph PM. 2007. A kindred of children with interstitial lung disease.Chest. 132(1):221-30.

Bullock JZ, Villanueva JM, Blanchard C, Filipovich AH, Putnam PE, Collins MH, Risma KA, Akers RM, Kirby CL, Buckmeier BK, Assa'ad AH, Hogan SP, Rothenberg ME. 2007 Interplay of adaptive th2 immunity with eotaxin-3/c-C chemokine receptor 3 in eosinophilic esophagitis.J Pediatr Gastroenterol Nutr. 45(1):22-31.

Trizzino A, Zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter JI, Griffiths GM, Santoro A, Filipovich A, Arico M. 2008. Genotype-phenotype study of familial hemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet. 45:15-21.

Urrea Moreno R, Gil J, Rodriguez-Sainz C, Cela E, LaFay V, Oloizia B, Herr A, Sumegi J, Jordan M, Risma K. 2008. Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function. Accepted for publication, Blood. Oct 16.

Abstracts, Most Recent

K. Risma, Deering R, Monaco-Shawver L, Heltzer M, Burnham J, Niemela J, Fleisher TA, Bleesing JJ, Putnam PE, Jain A, and JS Orange. Ectodermal dysplasia with immunodeficiency and lymphedema, but not osteopetrosis, is associated with a unique NF-kB Essential Modulator (NEMO) mutation. Clinical Immunology Society's Primary Immunodeficiency Diseases Consortium Conference, Boston, May 2005.

K A Risma, A H Filipovich, M Jordan, J Sumegi, Aberrant maturation of human perforin: Analysis of naturally occurring mutations reveals the functional capacity of mature versus precursor protein. Annual Retreat of CHRC (NICHD). Salt Lake City, September 2006.

Rebecca Marsh, Victor LaFay, Zeenath Unnisa, Alexandra Filipovich, Kimberly Risma. Healthy carriers of perforin H222Q have reduced NK function and decreased perforin content but the protein detected is the mature perforin isoform. 23rd Annual Meeting of the Histiocyte Society, September 2007 Cambridge, UK.

Sabine Mellor-Heineke, Joyce Villanueva, Alexandra Filipovich, Kimberly Risma. Granzyme B expression is a biomarker of cytotoxic lymphocyte activation in HLH and facilitates the diagnosis of perforin deficiency when missense mutations are present. 23rd Annual Meeting of the Histiocyte Society, September 2007 Cambridge, UK.

Ramon Urrea Moreno, Janos Sumegi, Juana Gil, Carmen Rodriguez –Sainz, Eduardo Fernandez-Cruz,
Michael Jordan, Kimberly Risma. Study of the maturation pattern of Y438C, A91V, and T435M perforin mutations found in a family with a child deceased by HLH. 23rd Annual Meeting of the Histiocyte Society, September 2007 Cambridge, UK.

Presentations, Most Recent

K. Risma, Deering R, Monaco-Shawver L, Heltzer M, Burnham J, Niemela J, Fleisher TA, Bleesing JJ, Putnam PE, Jain A, and JS Orange. Ectodermal dysplasia with immunodeficiency and lymphedema, but not osteopetrosis, is associated with a unique NF-kB Essential Modulator (NEMO) mutation.Clinical Immunology Society's Primary Immunodeficiency Diseases Consortium Conference, Boston, May 2005.

K. Risma, R. Frayer, S. Lee, J. Villanueva, J. Sumegi, and A.H. Filipovich. Perforin (PRF1) mutations in hemophagocytic lymphohistiocytosis (HLH): What about A91V?Oral abstract at Histiocyte Society Annual Meeting, Stockholm, Sweden; September 2004.

K. Risma, R. Frayer, A. Filipovich and J. Sumegi So many mutants... so little information: An in vitro model to study perforin (PRF1) missense mutations.Oral abstract at Histiocyte Society Annual Meeting, Stockholm, Sweden; September 2004.

Professional Organization Memberships

Clinical Immunology Society
American Academy of Allergy Asthma and Immunology
Society for Pediatric Research, elected 2007

Books

Clinical Immunology, 3rd edition. Chapter 100. Assessment of Functional Immune Responses. Authors: Jack J. Bleesing . M.D., Ph.D. and Kimberley A. Risma, M.D., Ph.D. Martin Mellor Publishing; April 2008; Section Editor, Thomas Fleisher.