Kimberly A. Risma, MD, PhD
Appointment
Assistant Professor
Email
kimberly.risma@cchmc.org
Phone
513-636-6771
Fax
513-636-4615
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.
Awards and Honors
AAAAI Outstanding Research in a Peer-Reviewed Journal with an Impact Factor >10 by an FIT or Junior Faculty Member Award, 2007
The Nezelof Prize in Basic Science, September 2004 Annual prize for the best scientific article at the Annual Histiocyte Society Meeting; Stockholm, Sweden
FOCIS/Millenium Award, May 2003 Travel award/presentation at FOCIS Meeting; Paris, France
Pediatric Resident Teaching Award, May-June, 2000 Awarded by the medical students during their Pediatric Clerkship at Childrens Hospital Medical Center, Cincinnati, OH
Research
Pathophysiology of perforin missense mutations identified in individuals with hemophagocytic lymphohistiocytosis.
Molecular mechanisms of primary immune deficiency and dysregulation
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.
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.
Professional Organization Memberships
- Alpha Omega Alpha
- Phi Beta Kappa
- Clinical Immunology Society
- American Academy of Allergy Asthma and Immunology
Special Interests
Immune deficiency and immune dysregulation
Presentations
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.
Related Areas
This person works in these other areas at Cincinnati Children's Hospital Medical Center:
