Diagnostic Center for Heritable Immunodeficiencies

  • Meet the Team

    The Diagnostic Center for Heritable Immunodeficiencies team at Cincinnati Children's Hospital Medical Center is comprised of specialists in human and molecular genetics, immunodeficiency and histiocytosis. 

    Recognized Excellence in Clinical Testing and Patient Care

    • A FOCIS Center of Excellence
    • A Jeffrey Modell Center of Excellence
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    Experts

    Jack J.H. Bleesing, MD, PhD

    Associate Professor, UC Department of Pediatrics

    Phone: 513-636-4266

    Fax: 513-636-3549

    Email: jack.bleesing@cchmc.org

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    Specialties

    Clinical Interests

    Immunobiology; translational research; immunologic methods development

    Research Interests

    Clinical investigation of primary immunodeficiency disorders (with emphasis on disorders of immunodysregulation and B-cell disorders); immuno-reconstitution following blood and marrow transplantation; diagnostic immunology (with emphasis on flow cytometry) 

    Education and Training

    MD: University of Leiden, Leiden, The Netherlands, 1989.

    PhD: University of Leiden, Leiden, The Netherlands, 2002.

    Residency: Pediatrics, University of Florida, Gainesville, Florida, 1993.

    Fellowship: Allergy/Immunology, Duke University Medical Center, Durham, North Carolina, 1995.

    Fellowship: Clinical Laboratory Immunology, National Institutes of Health, Bethesda, Maryland, 2001.

    Publications

    View PubMed Publications
    A photo of Stella Davies.

    Stella M. Davies, MBBS, PhD, MRCP
    Director, Bone Marrow Transplantation and Immune Deficiency

    513-636-2469

    stella.davies@cchmc.org

    Stella M. Davies, MBBS, PhD, MRCP

    Director, Bone Marrow Transplantation and Immune Deficiency

    Jacob G. Schmidlapp Endowed Chair

    Professor, UC Department of Pediatrics

    Phone: 513-636-2469

    Fax: 513-636-3549

    Email: stella.davies@cchmc.org

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    Specialties

    Education and Training

    MBBS: University of Newcastle-Upon-Tyne, England, 1981.

    Clinical and Fellowship Training: The Royal Victoria Infirmary, Newcastle General Hospital and Great Ormond St. Hospital, 1981 to 1985.

    PhD: University of Newcastle-Upon-Tyne, England, 1989.

    Pediatric Fellowship: University of Minnesota, Minneapolis, MN, 1989 to 1993.

    Publications

    View PubMed Publications

    Grants

    Multicenter Pilot Trial of HSCT Lacking a Genotype Identical Donor. Principal Investigator. Fanconi Anemia Research Fund. May 2010 - Apr 2013.

    Antileukemic effect of NK cells in HCT for Pediatric AML. Principal Investigator. National Institutes of Health. Aug 2007 - Jun 2012. #R01 CA 120583.

    The Children's Oncology Group Chairs Grant. Principal Investigator. National Institutes of Health. Mar 2008 - Feb 2012. #U10 CA 098543.

    Mechanisms of RET/PTC Rearrangement in Thyroid Cancer. Principal Investigator. National Institutes of Health. Mar 2009 - Feb 2012. #R01 CA 088041.

    Damage Response Pathway. Principal Investigator. National Institutes of Health. Dec 2008 - Nov 2011. #R01 ES 016625.


    A photo of Lisa Filipovich.

    Alexandra H. Filipovich, MD
    Ralph J. Stolle Chair, Clinical Immunology

    513-803-3218

    lisa.filipovich@cchmc.org

    Alexandra (Lisa) H. Filipovich, MD

    Ralph J. Stolle Chair, Clinical Immunology

    Director, Immune Deficiency and Histiocytosis Program

    Medical Director, Diagnostic Immunology Laboratory

    Professor, UC Department of Pediatrics

    Phone: 513-803-3218

    Fax: 513-636-3549

    Email: lisa.filipovich@cchmc.org

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    Specialties

    Clinical Interests

    Primary immunodeficiencies; BMT for primary immunodeficiencies; hemophagocytic lymphocytosis; post-BMT immune reconstruction 

    Research Interests

    Biology 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

    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.

    No photo available

    Judith A. Johnson, MS, CPM

    Project Manager

    University of Cincinnati College of Medicine

    Phone: 513-636-3479

    Email: juditha.johnson@cchmc.org

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    Specialties

    Barriers to genetic counseling;  innovative methods of providing complex genetic information to patients and physicians

    Biography

    Judith Johnson, MS, is a board-certified genetic counselor with extensive experience in many areas of medical genetics. Judith is currently co-investigator in several research projects.  Judith is also a certified Project Manager.

    Education and Training

    MS: Medical Genetics, Indiana University, Indianapolis, IN, 1985.

    MS: Clinical Behavioral Psychology, Eastern Michigan University, Ypsilanti, MI, 1995.

    Certification: Genetic Counseling, 1987; Project Management, 2010

    Publications


    Parinda A. Mehta, MD

    Associate Professor, UC Department of Pediatrics

    Phone: 513-636-4913

    Fax: 513-803-1969

    Email: parinda.mehta@cchmc.org

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    Education and Training

    Fellowship: Cincinnati Children's Hospital Medical Center, 2005.

    Residency: Upstate Medical University (UMU) - State University of New York (SUNY), Syracuse, NY, 2002.

    MD: G.S. Medical College and K.E.M Hospital, Mumbai, India, 1993.

    BA: Graduated from Parle College, Mumbai, India, 1988.

    Certification: Board Certification: Pediatrics, 2002; Board Certification: Pediatric Hematology Oncology; License: State of Ohio.

    Publications

    View PubMed Publications

    Kasiani C. Myers, MD

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-636-7287

    Email: kasiani.myers@cchmc.org

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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

    A photo of Kejian Zhang.

    Kejian Zhang, MD, MBA
    Director, Molecular Genetics Laboratory

    513-636-0121

    kejian.zhang@cchmc.org

    Kejian Zhang, MD, MBA

    Director, Molecular Genetics Laboratory

    Associate Professor, UC Department of Pediatrics

    Phone: 513-636-0121

    Fax: 513-636-2261

    Email: kejian.zhang@cchmc.org

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    Specialties

    Clinical Interests

    Molecular genetics diagnosis of inherited immunodeficiency disorders and other genetic conditions

    Research Interests

    Molecular defects and molecular diagnosis of primary immunodeficiency diseases; Genetic aspects of predictive personalized medicine (pharmacogenetics)

    Education and Training

    MD: Tianjin Medical University, Tianjin, China, 1993

    MBA: University of Cincinnati, College of Business Administration, 2001

    Residency: Gong'an Hospital, Tianjin, China, 1993-1995

    Fellowship: Clinical Molecular Genetics Fellow, Division of Human Genetics, Cincinnati Children's Hospital, 2002-2004

    Publications

    View PubMed Publications

    Zhang K, Jordan MB, Klein P, Villanueva J, Risma K, Filipovic AH. .Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial hemophagocytic lymphohistiocytosis. Blood. 2011 August 31.

    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.

    Pestian J, Spencer M, Matykiewicz P, Zhang K, Vinks AA, Glauser T. Personalizing Drug Selection Using Advanced Clinical Decision Support. Biomed Inform Insights. 2009 Jun 23;2:19-29.

    Prows CA, Nick TG, Saldaña SN, Pathak S, Liu C, Zhang K, Daniels ZS, Vinks AA, Glauser TA. Drug-metabolizing enzyme genotypes and aggressive behavior treatment response in hospitalized pediatric psychiatric patients. J Child Adolesc Psychopharmacol. 2009 Aug;19(4):385-94.

    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 deficiencyCytometry B Clin Cytom. 2009 Sep;76(5):334-44.

    Prausa SE, Fukuda T, Maseck D, Curtsinger KL, Liu C, Zhang K, Nick TG, Sherbotie JR, Ellis EN, Goebel J, Vinks AA. UGT genotype may contribute to adverse events following medication with mycophenolate mofetil in pediatric kidney transplant recipients. Clin Pharmacol Ther. 2009 May;85(5):495-500.

    Zhang K, Biroschak J, Glass DN, Thompson SD, Finkel T, Passo MH, Binstadt BA, Filipovich A, Grom AA. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms. Arthritis Rheum. 2008 Sep;58(9):2892-6.

    Grants

    Macrophage Activation Syndrome Biomarkers in Systemic Juvenile Idiopathic Arthritis. Co-investigator. National Institute of Arthritis, Musculoskeletal and Skin Diseases. Aug 2007 - Dec 2012.

    MUNC13-4 gene Polymorphisms in Macrophage Activation syndrome and Systemic Juvenile Idiopathic Arthritis. Co-Investigator. National Institute of Health. Sept 2011 - Aug 2016.