Alexandra H. Filipovich, MD
Ralph J. Stolle Chair, Clinical Immunology
is a clinical immunologist who studies the genetics and pathogenesis of congenital immunodeficiencies including HLH (Hemophagocytic Lymphohistiocytosis). Translational research involves developing safer approaches to hematopoietic cell transplantation for such diseases, as well as the application of gene therapy.
513-803-3218
lisa.filipovich@cchmc.org
Alexandra H. Filipovich, MD
Ralph J. Stolle Chair, Clinical Immunology
Director, Immune Deficiency and Histiocytosis Program
Medical Director, Diagnostic Immunology Laboratory
Academic Information
Professor, UC Department of Pediatrics
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Specialties
Clinical InterestsPrimary immunodeficiencies; BMT for primary immunodeficiencies; hemophagocytic lymphocytosis; post-BMT immune reconstruction Research InterestsBiology and genetics of hemophagocytic lymphohistiocytosis; investigation of hematopoietic cell transplantation for genetic immunodeficiencies; immunoreconstitution following pediatric stem cell transplantation
Biography
Lisa Filipovich, MD, began her career at the University of Minnesota where she received her medical degree in 1974 and completed fellowships in both immunopathology and pediatric immunology. She became a professor of pediatrics and served for ten years as the head of the Division of Immunology at the University of Minnesota Medical School. Dr. Filipovich came to Cincinnati Children’s Hospital Medical Center in 1996. She is currently the Ralph J. Stolle Chair in Clinical Immunology and the director of the Immune Deficiency and Histiocytosis program. She also serves as the medical director of the Diagnostic Immunology Laboratory at Cincinnati Children’s. Dr. Filipovich has a special interest in histiocytic disorders, especially Hemophagocytic Lymphohistiocytosis (HLH). Other interests include bone marrow transplant for primary immune deficiencies and post-BMT immune reconstitution. She serves as president of the Histiocyte Society, an international group of more than 200 physicians and scientists who are committed to improving the lives of patients with histiocytosis through research.
Education and Training
MD: University of Minnesota, Minneapolis, MN, 1974.
Residency: University of Minnesota Hospitals, Minneapolis, MN 1975-1978.
Fellowship: Immunopathology, Departments of Pediatrics, Laboratory Medicine and Pathology, University of Minnesota 1978-1979.
Fellowship: Pediatric Immunology, Department of Pediatrics, University of Minnesota 1979-1980.
Certification: Pediatrics, 1980.
Publications
View PubMed Publications
Jodele S, Bleesing JJ, Mehta PA, Filipovich AH, Laskin BL, Goebel J, Pinkard SL, Davies SM. Successful early intervention for hyperacute transplant-associated thrombotic microangiopathy following pediatric hematopoietic stem cell transplantation. Pediatr Transplant. 2010 Nov 5. Marsh RA, Vaughn G, Kim MO, Li D, Jodele S, Joshi S, Mehta PA, Davies SM, Jordan MB, Bleesing JJ, Filipovich AH. Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation. Blood. 2010 Dec 23;116(26):5824-31.
Marsh RA, Bleesing JJ, Filipovich AH. Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency. J Immunol Methods. 2010 Oct 31;362(1-2):1-9.
Laskin BL, Goebel J, Davies SM, Khoury JC, Bleesing JJ, Mehta PA, Filipovich AH, Paff ZN, Lawrence JM, Yin HJ, Pinkard SL, Jodele S. Early clinical indicators of transplant-associated thrombotic microangiopathy in pediatric neuroblastoma patients undergoing auto-SCT. Bone Marrow Transplant. 2010 Aug 9.
Filipovich AH, Zhang K, Snow AL, Marsh RA. X-linked lymphoproliferative syndromes: brothers or distant cousins? Blood. 2010 Nov 4;116(18):3398-408.
Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB, Bleesing JJ, Zhang K, Filipovich AH. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010 Aug 19;116(7):1079-82. Marsh RA, Satake N, Biroschak J, Jacobs T, Johnson J, Jordan MB, Bleesing JJ, Filipovich AH, Zhang K. STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America. Pediatr Blood Cancer. 2010 Jul 15;55(1):134-40. Filipovich AH. Hemophagocytic lymphohistiocytosis (HLH) and related disorders. Hematology Am Soc Hematol Educ Program. 2009:127-31. Nicolaou SA, Neumeier L, Takimoto K, Lee SM, Duncan HJ, Kant SK, Mongey AB, Filipovich AH, Conforti L. Differential calcium signaling and Kv1.3 trafficking to the immunological synapse in systemic lupus erythematosus. Cell Calcium. 2010 Jan;47(1):19-28. Marsh RA, Villanueva J, Kim MO, Zhang K, Marmer D, Risma KA, Jordan MB, Bleesing JJ, Filipovich AH. Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations. Clin Immunol. 2009 Jul;132(1):116-23.
Grants
Gene Therapy for SCID-X1 Using Self-Inactivating Gamma. Principal Investigator. National Institutes of Health. Sep 2010 - Aug 2015. #U01 AI 087628. Rare Diseases Clinical Consortia for the Rare Diseases. Principal Investigator. National Institutes of Health. Sep 2009 - Aug 2014. #U54 AI 082973. Hypoxia and potassium channel activity in T Lymphocytes. Principal Investigator. National Institutes of Health. Jun 2009 - Jun 2014. #R01 CA 095286. Histiocyte Society Annual Meeting to be Held in Boston. Principal Investigator. National Institutes of Health. Feb 2011 - Jan 2012. #R13 HL 106925.
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Michael S. Grimley, MD
Academic Information
Associate Professor, UC Department of Pediatrics
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Specialties
Bone marrow transplantation for primary immunodeficiencies; cord blood transplants; leukemia
Education and Training
MD: Emory University School of Medicine, Atlanta, GA, 1992.
Residency: Wilford Hall Medical Center, Lackland, AFB, TX, 1995.
Fellowship: Cincinnati Children’s Hospital Medical Center, 1999.
Certification: General Pediatrics, Pediatric Hematology/Oncology.
Licenses: Ohio, Texas.
Publications
View PubMed Publications
Jubert C, Wall DA, Grimley M, Champagne MA, Duval M. Engraftment of unrelated cord blood after reduced-intensity conditioning regimen in children with refractory neuroblastoma: a feasibility trial. Bone Marrow Transplant. 2011 Feb;46(2):232-7. Jacobson PA, Huang J, Wu J, Kim M, Logan B, Alousi A, Grimley M, Bolaños-Meade J, Ho V, Levine JE, Weisdorf D. Mycophenolate pharmacokinetics and association with response to acute graft-versus-host disease treatment from the Blood and Marrow Transplant Clinical Trials Network. Biol Blood Marrow Transplant. 2010 Mar;16(3):421-9. Jacobsohn DA, Gilman AL, Rademaker A, Browning B, Grimley M, Lehmann L, Nemecek ER, Thormann K, Schultz KR, Vogelsang GB. Evaluation of pentostatin in corticosteroid-refractory chronic graft-versus-host disease in children: a Pediatric Blood and Marrow Transplant Consortium study. Blood. 2009 Nov 12;114(20):4354-60. Pulsipher MA, Wall DA, Grimley M, Goyal RK, Boucher KM, Hankins P, Grupp SA, Bunin N. A phase I/II study of the safety and efficacy of the addition of sirolimus to tacrolimus/methotrexate graft versus host disease prophylaxis after allogeneic haematopoietic cell transplantation in paediatric acute lymphoblastic leukaemia (ALL). Br J Haematol. 2009 Dec;147(5):691-9. Pulsipher MA, Boucher KM, Wall D, Frangoul H, Duval M, Goyal RK, Shaw PJ, Haight AE, Grimley M, Grupp SA, Kletzel M, Kadota R. Reduced-intensity allogeneic transplantation in pediatric patients ineligible for myeloablative therapy: results of the Pediatric Blood and Marrow Transplant Consortium Study ONC0313. Blood. 2009 Aug 13;114(7):1429-36. Chan KW, McDonald L, Lim D, Grimley MS, Grayson G, Wall DA. Unrelated cord blood transplantation in children with idiopathic severe aplastic anemia. Bone Marrow Transplant. 2008 Nov;42(9):589-95. Chan KW, Grimley MS, Taylor C, Wall DA. Early identification and management of graft failure after unrelated cord blood transplantation. Bone Marrow Transplant. 2008 Jul;42(1):35-41. Swinney RM, Wall DA, Thomas PJ, Grimley MS, Taylor C, Tomlinson GE. Familial childhood leukemia cluster with multiple aggressive early-onset hematological malignancies. Leuk Lymphoma. 2006 May;47(5):930-2. Shaughnessy PJ, Bachier C, Grimley M, Freytes CO, Callander NS, Essell JH, Flomenberg N, Selby G, Lemaistre CF. Denileukin diftitox for the treatment of steroid-resistant acute graft-versus-host disease. Biol Blood Marrow Transplant. 2005 Mar;11(3):188-93. Parker A, Anderson C, Weiss KL, Grimley M, Sorrells D. Eukaryotic initiation factor 4E staining as a clinical marker in pediatric neuroblastoma. J Pediatr Hematol Oncol. 2004 Aug;26(8):484-7.
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Michael B. Jordan, MD
specializes in caring for children with histiocytic disorders, primary immune deficiencies, or who are undergoing bone marrow transplantation. His laboratory focuses on understanding effector T cell function, immune regulation, and the pathogenesis of hemophagocytic lymphohistiocytosis. He is also conducting preclinical scientific studies in addition to a translational clinical trial.
513-636-0281
michael.jordan@cchmc.org
Michael B. Jordan, MD
Academic Information
Associate Professor, UC Department of Pediatrics
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Specialties
Clinical InterestsHistiocytic disorders: HLH and LCH Research InterestsBetter understanding histiocytic disorders and developing novel therapies for them; regulation of the immune response; immunotherapy of cancer
Education and Training
MD: UT Southwestern, Dallas, TX 1993.
Residency: Children's Hospital of Dallas, 1996.
Fellowship: The Children's Hospital (Denver) 2002.
Certification: American Board of Pediatrics, 1996; Sub-board of Pediatric Heme/Onc 2002.
Publications
View PubMed Publications
Marsh RA, Vaughn G, Kim MO, Li D, Jodele S, Joshi S, Mehta PA, Davies SM, Jordan MB, Bleesing JJ, Filipovich AH. Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation. Blood. 2010 Dec 23;116(26):5824-31. Mehta PA, Vinks AA, Filipovich A, Bleesing J, Jodele S, Jordan MB, Marsh R, Tarin R, Edwards S, Fearing D, Lawrence J, Davies SM. Alternate-day micafungin antifungal prophylaxis in pediatric patients undergoing hematopoietic stem cell transplantation: a pharmacokinetic study. Biol Blood Marrow Transplant. 2010 Oct;16(10):1458-62. Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB, Bleesing JJ, Zhang K, Filipovich AH. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010 Aug 19;116(7):1079-82. Marsh RA, Satake N, Biroschak J, Jacobs T, Johnson J, Jordan MB, Bleesing JJ, Filipovich AH, Zhang K. STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America. Pediatr Blood Cancer. 2010 Jul 15;55(1):134-40. Lykens JE, Terrell CE, Zoller EE, Divanovic S, Trompette A, Karp CL, Aliberti J, Flick MJ, Jordan MB. Mice with a selective impairment of IFN-gamma signaling in macrophage lineage cells demonstrate the critical role of IFN-gamma-activated macrophages for the control of protozoan parasitic infections in vivo. J Immunol. 2010 Jan 15;184(2):877-85. Lin AA, Tripathi PK, Sholl A, Jordan MB, Hildeman DA. Gamma interferon signaling in macrophage lineage cells regulates central nervous system inflammation and chemokine production. J Virol. 2009 Sep;83(17):8604-15. Marsh RA, Villanueva J, Kim MO, Zhang K, Marmer D, Risma KA, Jordan MB, Bleesing JJ, Filipovich AH. Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations. Clin Immunol. 2009 Jul;132(1):116-23. Marsh RA, Villanueva J, Zhang K, Snow AL, Su HC, Madden L, Mody R, Kitchen B, Marmer D, Jordan MB, Risma KA, Filipovich AH, Bleesing JJ. A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency. Cytometry B Clin Cytom. 2009 Sep;76(5):334-44. Jordan MB, Filipovich AH. Hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis: a journey of a thousand miles begins with a single (big) step. Bone Marrow Transplant. 2008 Oct;42(7):433-7. Wojciechowski S, Jordan MB, Zhu Y, White J, Zajac AJ, Hildeman DA. Bim mediates apoptosis of CD127(lo) effector T cells and limits T cell memory. Eur J Immunol. 2006 Jul;36(7):1694-706.
Grants
Hybrid Immunotherapy for Hemophagocytic Lymphohistiocytosis. Principal Investigator. Histiocytosis Association of America. Jan 2011 - Dec 2011.
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Ashish R. Kumar, MD, PhD
is a Pediatric Hematologist-Oncologist who has a research program investigating the biology of leukemia caused by MLL-fusion genes. These leukemias are most common in infants and frequently fatal. The research in Dr. Kumar's lab is focused at identifying downstream targets of MLL-fusion proteins that could be exploited to develop novel therapies. Currently, the Kumar lab is investigating the role of MEIS1 in MLL-leukemia. Visit the Kumar Lab.
513-803-1631
ashish.kumar@cchmc.org
Ashish R. Kumar, MD, PhD
Academic Information
Assistant Professor, UC Department of Pediatrics
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Specialties
Clinical InterestsChildhood cancer and blood disorders; immune deficiency Research InterestsLeukemia biology; cancer biology Visit the Kumar Lab.
Biography
Dr. Kumar received his medical degree from L.T.M. Medical College, Mumbai, India, his PhD in Anatomy and Cell Biology from the University of Iowa, Pediatric residency training at the Mayo Clinic and fellowship in Pediatric Hematology / Oncology / BMT at the University of Minnesota. He was appointed to the faculty of the University of Minnesota in the Department of Pediatrics where he was a member of the programs in Pediatric Leukemia and Global Pediatrics. As a faculty of the Masonic Cancer Center, he was also part of the Genetic Mechanisms of Cancer research program. Dr. Kumar’s laboratory is engaged in researching the biology of infant leukemia. Discoveries made in his laboratory have significantly enhanced the current understanding of leukemia.
Education and Training
MD: LTM Medical College, Mumbai, India.
Residency: Mayo Clinic, Rochester, MN.
Fellowship: University of Minnesota, Minneapolis, MN.
PhD: University of Iowa, Iowa City, IA.
Certification: General Pediatrics; Pediatric Hematology/Oncology Subspecialty.
Licenses: State of Ohio; State of Minnesota.
Publications
View PubMed Publications
Kumar AR, Yao Q, Li Q, Sam TA, Kersey JH. t(4;11) leukemias display addiction to MLL-AF4 but not to AF4-MLL. Leuk Res. 2011 Mar;35(3):305-9. Kumar AR, Sarver AL, Wu B, Kersey JH. Meis1 maintains stemness signature in MLL-AF9 leukemia. Blood. 2010 Apr 29;115(17):3642-3. Burke MJ, Cao Q, Trotz B, Weigel B, Kumar A, Smith A, Verneris MR. Allogeneic hematopoietic cell transplantation (allogeneic HCT) for treatment of pediatric Philadelphia chromosome-positive acute lymphoblastic leukemia (ALL). Pediatr Blood Cancer. 2009 Dec 15;53(7):1289-94.
Kumar AR, Li Q, Hudson WA, Chen W, Yao Q, Sam TN, Wu B, Lund EA, Kowal BJ and Kersey JH. A role for MEIS1 in MLL-fusion gene leukemia. Blood. 2009 Feb 19; 113(8):1756-8.
Chen W*, Kumar AR*, Hudson WA, Li Q, Wu B, Staggs RA, Lund EA, Sam TN and Kersey JH. Malignant transformation initiated by Mll-AF9: Gene dosage and critical target cells. Cancer Cell. 2008 May; 13: 432-440. *Co-first authors.
Kris Ann P. Schultz, MD, Joseph P. Neglia, MD, MPH, Angela R. Smith, MD, Hans D. Ochs, MD, Dr. med., Troy R. Torgerson, MD, PhD, and Ashish Kumar, MD, PhD. Familial Hemophagocytic Lymphohistiocytosis in Two Brothers With X-Linked Agammaglobulinemia. Pediatric Blood and Cancer 2008; 51:293–295.
White JG, Kumar AR, Hogan MJ. Gray Platelet Syndrome in a Somalian Family. Platelets. 2006 Dec; 17:519-527.
Mehta PA, Davies SM, Kumar A, Devidas M, Lee S, Zamzow T, Elliott J, Villanueva J, Pullen J, Zewge Y, and Filipovich A; Children’s Oncology Group. Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. Leukemia. 2006 Sep; 20; 1539-1541.
Chen W, Li Q, Hudson WA, Kumar A, Kirchhof N, Kersey JH. A murine Mll-AF4 knock-in model results in lymphoid and myeloid deregulation and hematological malignancy. Blood. 2006 Jul 15; 108:669-677.
Grants
Molecular Pathogenesis of MLL-Fusion Gene Leukemia. View PubMed Publications. Principal Investigator. National Institute of Health. Jul 2007 - Jun 2012.
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Rebecca A. Marsh, MD
is an immunologist and bone marrow transplant physician. Her research focuses on understanding the pathogenesis of HLH in patients with XIAP deficiency, developing new diagnostic laboratory assays, and improving the outcomes of allogeneic bone marrow transplantation in patients with primary immune deficiencies.
513-803-3218
Rebecca A. Marsh, MD
Academic Information
Assistant Professor, University of Cincinnati College of Medicine
Phone: 513-803-3218
Fax: 513-636-3549
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Education and Training
Fellowship: Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, 2008.
Residency: Rush University Medical Center, Chicago, Illinois, 2006.
MD: Rush Medical College 2003.
BS: University of Tennessee, Knoxville, Tennessee, 1998.
Publications
View PubMed Publications
Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, Villanueva J, Risma KA, Wei Q, Klein PS, Filipovich AH. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial hemophagocytic lymphohistiocytosis. Blood. 2011 Aug 31. Marsh RA, Jordan MB, Filipovich AH. Reduced-intensity conditioning haematopoietic cell transplantation for haemophagocytic lymphohistiocytosis: an important step forward. British journal of haematology. 2011 Sep;154(5):556-63. Marsh RA, Vaughn G, Kim MO, Li D, Jodele S, Joshi S, Mehta PA, Davies SM, Jordan MB, Bleesing JJ, Filipovich AH. Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation. Blood. 2010 Dec 23;116(26):5824-31. Marsh RA, Satake N, Biroschak J, Jacobs T, Johnson J, Jordan MB, Bleesing JJ, Filipovich AH, Zhang K. STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America. Pediatric blood & cancer. 2010 Jul 15;55(1):134-40. Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB, Bleesing JJ, Zhang K, Filipovich AH. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010 Aug 19;116(7):1079-82. Marsh RA, Bleesing JJ, Filipovich AH. Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency. Journal of immunological methods. 2010 Oct 31;362(1-2):1-9. Hinze CH, Lucky AW, Bove KE, Marsh RA, Bleesing JH, Passo MH. Leukocyte adhesion deficiency type 1 presenting with recurrent pyoderma gangrenosum and flaccid scarring. Pediatric dermatology. 2010 Sep-Oct;27(5):500-3. Filipovich AH, Zhang K, Snow AL, Marsh RA. X-linked lymphoproliferative syndromes: brothers or distant cousins? Blood. 2010 Nov 4;116(18):3398-408. Marsh RA, Villanueva J, Zhang K, Snow AL, Su HC, Madden L, Mody R, Kitchen B, Marmer D, Jordan MB, Risma KA, Filipovich AH, Bleesing JJ. A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency. Cytometry Part B, Clinical cytometry. 2009 Sep;76(5):334-44. Marsh RA, Villanueva J, Kim MO, Zhang K, Marmer D, Risma KA, Jordan MB, Bleesing JJ, Filipovich AH. Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations. Clinical immunology (Orlando, Fla). 2009 Jul;132(1):116-23.
Grants
Studies to Determine why XIAP Deficiency leads to HLH. Clinical Immunology Society. Jul 2010 - Jun 2012,
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Kasiani C. Myers, MD
is a bone marrow transplant physician focused on translational research in bone marrow failure and Fanconi anemia (FA), specifically the longitudinal evaluation of hematopoiesis in FA as a model for de novo leukemogenesis. These studies will lead to development and clinical trials of targeted therapies to preserve stem cell function through the elucidation of the steps in the pathway towards marrow failure and malignant transformation.
513-636-7287
kasiani.myers@cchmc.org
Kasiani C. Myers, MD
Academic Information
Assistant Professor, UC Department of Pediatrics
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Biography
Dr. Myers received her medical degree from Case Western Reserve University and pursued training in pediatrics and hematology/oncology at Cincinnati Children’s Hospital Medical Center. After completion of her postdoctoral training, she joined the faculty at Cincinnati Children’s in the Division of Bone Marrow Transplantation and Immune Deficiency. She is a recipient of the Procter Scholar Award to support her translational research in the field of Fanconi anemia.
Education and Training
BS: University of Michigan, 2000.
MD: Case Western Reserve University, 2004.
Post-Doctoral: Cincinnati Children’s Hospital Medical Center, 2010.
Certification: Pediatrics, 2007.
Publications
View PubMed Publications
Mehta P, Harris R, Davies S, Kim M, Mueller R, Lampkin B, Mo J, Myers K, Smolarek T. Numerical Chromosomal Changes and Risk of Development of Myelodysplastic Syndrome/Acute Myeloid Leukemia in Patients with Fanconi Anemia. Cancer Genet Cytogenet. 2010 Dec;203(2):180-6. Myers KC, Davies SM. Hematopoietic stem cell transplantation for bone marrow failure syndromes in children.” Biol Blood Marrow Transplant. Biol Blood Marrow Transplant. 2009 Mar;15(3):279-92. Review. Pozios KC, Ding J, Degger B, Upton Z, Duan C. GFs stimulate zebrafish cell proliferation by activating the MAP kinase and PI3-kinase signaling pathways. Am J Physiol Regul Integr Comp Physiol. 2001 Apr;280(4):R1230-9.
Duan C, Ding J, Li Q, Tsai W, Pozios K. Insulin-like growth factor binding protein 2 is a growth inhibitory protein conserved in zebrafish. Proc Natl Acad Sci USA. 1999 Dec 21;96(26):15274-9.
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Kimberly A. Risma, MD, PhD
Director, Allergy and Immunology Fellowship Program
is focused on the molecular and cellular bases of primary disorders of immune deficiency and dysregulation, especially as it relates to lymphocyte cytotoxicity. She studies the pathologic consequences of missense mutations in perforin identified in patients with hemophagocytic lymphohistiocytosis (HLH) and strives to develop novel therapies through gene therapy or small molecule chaperones.
513-636-6771
kimberly.risma@cchmc.org
Kimberly A. Risma, MD, PhD
Director, Allergy and Immunology Fellowship Program
Academic Information
Assistant Professor, UC Department of Pediatrics
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Specialties
Clinical InterestsImmune deficiency; immune dysregulation Research InterestsPathophysiology 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
Biography
Kimberly Risma, MD, PhD, is an assistant professor in the Division of Allergy and 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. 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 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 and Immunology Fellowship Program 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. 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. In 2006 Dr. Risma received a Clinical Scientist Development Award from the Doris Duke Charitable Foundation. Dr. Risma is the director of the Allergy and Immunology Fellowship Program at Cincinnati Children's, having served in this leadership position since August of 2012.
Dr. Risma's 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.
Education and Training
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, 2007; Allergy and Immunology, 2005.
Publications
View PubMed Publications
Risma K. A loss of naivete. Blood. 2012 Apr 12;119(15):3371-2. Risma K, Jordan MB. Hemophagocytic lymphohistiocytosis: updates and evolving concepts. Curr Opin Pediatr. 2012 Feb;24(1):9-15. Uygungil B, Assa'Ad A, Khurana Hershey GK, Risma K. Immunodeficiency: a problem with the faucet or the drain? Ann Allergy Asthma Immunol. 2011 Dec;107(6):547-9. Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, Villanueva J, Risma KA, Wei Q, Klein PS, Filipovich AH. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood. 2011 Nov 24;118(22):5794-8. Lykens JE, Terrell CE, Zoller EE, Risma K, Jordan MB. Perforin is a critical physiologic regulator of T-cell activation. Blood. 2011 Jul 21;118(3):618-26. Sumegi J, Barnes MG, Nestheide SV, Molleran-Lee S, Villanueva J, Zhang K, Risma KA, Grom AA, Filipovich AH. Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis. Blood. 2011 Apr 14;117(15):e151-60. Uygungil B, Bleesing JJ, Risma KA, McNeal MM, Rothenberg ME. Persistent rotavirus vaccine shedding in a new case of severe combined immunodeficiency: A reason to screen. J Allergy Clin Immunol. 2010 Jan;125(1):270-1. Marsh RA, Villanueva J, Kim MO, Zhang K, Marmer D, Risma KA, Jordan MB, Bleesing JJ, Filipovich AH. Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T cell populations. Clin Immunol. 2009 Jul;132(1):116-23. Marsh RA, Villanueva J, Zhang K, Snow AL, Su HC, Madden L, Mody R, Kitchen B, Marmer D, Jordan MB, Risma KA, Filipovich AH, Bleesing JJ. A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency. Cytometry B Clin Cytom. 2009 Sep;76(5):334-44. Risma KA, Frayer RW, Filipovich AH, Sumegi J. Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. J Clin Invest. 2006 Jan;116(1):182-92.
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Janos Sumegi, MD, PhD
is a molecular geneticist who has an interest in the molecular mechanisms involved in Familial Hemophagocytic Lymphohistiocytosis and X-linked Lymphoproliferative Syndrome. A second focus of his lab is to study the genes and regulatory pathways involved in the tumorigenesis of alveolar rhabdomyosarcoma.
513-636-5976
janos.sumegi@cchmc.org
Janos Sumegi, MD, PhD
Academic Information
Professor, UC Department of Pediatrics
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Specialties
Lymphoproliferative disease; hemophagocytic lymphohistiocytosis; usher syndrome
Education and Training
MD: University Medical School of Debrecen, Hungary, 1968.
PhD: Research Center of the Hungarian Academy of Science, Budapest, Hungary, 1974. Docent (DMSc): Karolinska Institute Stockhom, Sweden, 1982.
Publications
View PubMed Publications
Sumegi J, Barnes MG, Nestheide SV, Molleran-Lee S, Villanueva J, Zhang K, Risma KA, Grom AA, Filipovich AH. Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis. Blood. 2011 Apr 14;117(15):e151-60. Sumegi J, Nishio J, Nelson M, Frayer RW, Perry D, Bridge JA. A novel t(4;22)(q31;q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor. Mod Pathol. 2011 Mar;24(3):333-42.
Huang D, Sumegi J, Dal Cin P, Reith JD, Yasuda T, Nelson M, Muirhead D, Bridge JA. C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma. Genes Chromosomes Cancer. 2010 Sep;49(9):810-8.
Sumegi J, Streblow R, Frayer RW, Dal Cin P, Rosenberg A, Meloni-Ehrig A, Bridge JA. Recurrent t(2;2) and t(2;8) translocations in rhabdomyosarcoma without the canonical PAX-FOXO1 fuse PAX3 to members of the nuclear receptor transcriptional coactivator family. Genes Chromosomes Cancer. 2010 Mar;49(3):224-36. Sumegi J, Johnson J, Filipovich A, Zhang K, Marsh R. Lymphoproliferative Disease, X-Linked. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993- 2004 Feb 27 [updated 2009 Jun 18].
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 G, Santoro A, Filipovich A, Aricò M; Histiocyte Society HLH Study group. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet. 2008 Jan;45(1):15-21. Erdos M, Alapi K, Balogh I, Oroszlán G, Rákóczi E, Sümegi J, Maródi L. Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene. Exp Hematol. 2006 Nov;34(11):1517-21.
Lee SM, Sumegi J, Villanueva J, Tabata Y, Zhang K, Chakraborty R, Sheng X, Clementi R, de Saint Basile G, Filipovich AH. Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. J Pediatr. 2006 Jul;149(1):134-7. Risma KA, Frayer RW, Filipovich AH, Sumegi J. Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. J Clin Invest. 2006 Jan;116(1):182-92.
Tabata Y, Villanueva J, Lee SM, Zhang K, Kanegane H, Miyawaki T, Sumegi J, Filipovich AH. Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. Blood. 2005 Apr 15;105(8):3066-71.
Grants
Gene-Expression Profiling of Peripheral Blood Mononuclear Cells in Hemophagocytic Lymphohistiocytosis. Histiocytosis Association of America. Dec 2010 - Nov 2011.
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