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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.
Jacob (Jack) J.H. Bleesing, MD, PhD Associate Director, Immunodeficiency and Histiocytosis Program 513-636-4266 HLH@cchmc.org
Associate Director, Immunodeficiency and Histiocytosis Program
Co-Director, Diagnostic Immunology Laboratory
Professor, UC Department of Pediatrics
Immunobiology; translational research; immunologic methods development
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.
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.
Eckrich MJ, Yang E, Domm J, Ho R, Calder C, Manes B, Bleesing J, Frangoul H. A Unique Clinical Presentation of X-Linked Lymphoproliferative Syndrome With a Novel Mutation in SH2D1A and Review of the Literature. J Pediatr Hematol Oncol. 2010 Oct 21.
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.
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.
Hansen MD, Filipovich AH, Davies SM, Mehta P, Bleesing J, Jodele S, Hayashi R, Barnes Y, Shenoy S. Allogeneic hematopoietic cell transplantation (HCT) in Hurler's syndrome using a reduced intensity preparative regimen. Bone Marrow Transplant. 2008 Feb;41(4):349-53.
Bhatla D, Davies SM, Shenoy S, Harris RE, Crockett M, Shoultz L, Smolarek T, Bleesing J, Hansen M, Jodele S, Jordan M, Filipovich AH, Mehta PA. Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome. Bone Marrow Transplant. 2008 Aug;42(3):159-65.
Zhang K, Johnson JA, Biroschak J, Villanueva J, Lee SM, Bleesing JJ, Risma KA, Wenstrup RJ, Filipovich AH. Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects. Int J Immunogenet. 2007 Aug;34(4):231-3.
JJH Bleesing. Assays for B Cell and Germinal Center Development (unit 7.34). In Current Protocols in Immunology. JE Coligan, BE Bierer, DH Margulies, EM Shevach, W Strober (eds.). Hoboken: John Wiley & Sons, 2004.
JJH Bleesing, TA Fleisher, JM Puck. Autoimmune lymphoproliferative syndrome (ALPS). In Immunologic Disorders in Infants and Children. 5th ed. ER Stiehm, HD Ochs, JA Winkelstein (eds). Philadelphia, PA: WB Saunders, 2004.
Stella M. Davies, MBBS, PhD, MRCP Director, Bone Marrow Transplantation and Immune Deficiency 513-636-1371 firstname.lastname@example.org
Director, Bone Marrow Transplantation and Immune Deficiency
Jacob G. Schmidlapp Endowed Chair
Co-Executive Director, Cancer and Blood Diseases Institute
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.
Mehta PA, Harris RE, Davies SM, Kim MO, Mueller R, Lampkin B, Mo J, Myers K, Smolarek TA. 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.
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.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.Phillips CL, Gerbing R, Alonzo T, Perentesis JP, Harley IT, Meshinchi S, Bhatla D, Radloff G, Davies SM. MDM2 polymorphism increases susceptibility to childhood acute myeloid leukemia: a report from the Children's Oncology Group. Pediatr Blood Cancer. 2010 Aug;55(2):248-53.
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.
Sakagami T, Beck D, Uchida K, Suzuki T, Carey BC, Nakata K, Keller G, Wood RE, Wert SE, Ikegami M, Whitsett JA, Luisetti M, Davies S, Krischer JP, Brody A, Ryckman F, Trapnell BC. Patient-derived granulocyte / macrophage colony-stimulating factor autoantibodies reproduce pulmonary alveolar proteinosis in nonhuman primates. Am J Respir Crit Care Med. 2010 Jul 1;182(1):49-61.
Wang D, Zhang W, Kalfa TA, Grabowski G, Davies S, Malik P, Pan D. Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler syndrome. Proc Natl Acad Sci U S A. 2009 Nov 24;106(47):19958-63.
Davies SM, Wang D, Wang T, Arora M, Ringden O, Anasetti C, Pavletic S, Casper J, Macmillan ML, Sanders J, Wall D, Kernan NA. Recent decrease in acute graft-versus-host disease in children with leukemia receiving unrelated donor bone marrow transplants. Biol Blood Marrow Transplant. 2009 Mar;15(3):360-6.
Myers KC, Davies SM. Hematopoietic stem cell transplantation for bone marrow failure syndromes in children. Biol Blood Marrow Transplant. 2009 Mar;15(3):279-92. Review.
Parinda A. Mehta, MD 513-636-4913 email@example.com
Associate Professor, UC Department of Pediatrics
BA: Graduated from Parle College, Mumbai, India, 1988.
MD: G.S. Medical College and K.E.M Hospital, Mumbai, India, 1993.
Residency: Upstate Medical University (UMU) - State University of New York (SUNY), Syracuse, NY, 2002.
Fellowship: Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2005.
Certification: Board Certification, Pediatrics, 2002; Board Certification, Pediatric Hematology Oncology, License, State of Ohio.
Davies SM, Mehta PA. Pediatric acute lymphoblastic leukemia: is there still a role for transplant? Hematology Am Soc Hematol Educ Program. 2010;2010:363-7.
Mehta PA, Harris RE, Davies SM, Kim MO, Mueller R, Lampkin B, Mo J, Myers K, Smolarek TA. 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.
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. doi: 10.1111/j.1399-3046.2010.01408.x
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.
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.
Mehta P, Locatelli F, Stary J, Smith FO. Bone marrow transplantation for inherited bone marrow failure syndromes. Pediatr Clin North Am. 2010 Feb;57(1):147-70. Review.
Mehta PA, Gerbing RB, Alonzo TA, Elliott JS, Zamzow TA, Combs M, Stover E, Ross JA, Perentesis JP, Meschinchi S, Lange BJ, Davies SM. FAS promoter polymorphism: outcome of childhood acute myeloid leukemia. A children's oncology group report. Clin Cancer Res. 2008 Dec 1;14(23):7896-9.
Bhatla D, Gerbing RB, Alonzo TA, Conner H, Ross JA, Meshinchi S, Zhai X, Zamzow T, Mehta PA, Geiger H, Perentesis J, Davies SM. Cytidine deaminase genotype and toxicity of cytosine arabinoside therapy in children with acute myeloid leukemia. Br J Haematol. 2009 Feb;144(3):388-94.
Kasiani C. Myers, MD 513-636-7287 firstname.lastname@example.org
Assistant Professor, UC Department of Pediatrics
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 of the Division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s within the UC Department of Pediatrics. She is a recipient of the Procter Scholar Award to support her translational research in the field of Fanconi anemia.
BS: University of Michigan, Ann Arbor, MI, 2000.
MD: Case Western Reserve University, Cleveland, OH, 2004.
Post-Doctoral: Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 2010.
Certification: Pediatrics, 2007.
Myers KC, Bolyard AA, Otto B, Wong TE, Jones A, Harris RE, MD, Davies SM, Dale DC, and Shimamura A. Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update From the North-American Shwachman-Diamond Syndrome Registry. J Pediatr. 2013 Dec 31.
Myers KC, Rose SR, Rutter MM, Mehta PA, Khoury JC, Cole T, Harris RE. Endocrine Evaluation of Children with and without Shwachman-Bodian-Diamond Syndrome Gene Mutations and Shwachman-Diamond Syndrome. J Pediatr. 2013 Jun;162(6):1235-40.
Myers KC, Lawrence J, Marsh RA, Davies SM, Jodele S. High-Dose Methylprednisolone for Veno-Occlusive Disease of the Liver in Pediatric Hematopoietic Stem Cell Transplantation Recipients. Biol Blood Marrow Transplant. 2013 Mar;19(3):500-3.
Myers KC, Davies SM, Shimamura A. Clinical and Molecular Pathophysiology of Shwachman–Diamond Syndrome: An Update. Hematol Oncol Clin North Am. 2013 Feb;27(1):117-28.
Rose RS, Myers K, Rutter MM, Mueller R, Khoury JC, Mehta PA, Harris RE, Davies SM, Endocrine Phenotype of Children and Adults with Fanconi Anemia. Pediatr Blood Cancer. 2012 Oct;59(4):690-6.
Du W, Rani R, Sipple J, Schick J, Myers KC, Mehta P, Andreassen PR, Davies SM, Pang Q, The FA pathway counteracts oxidative stress through selective protection of antioxidant defense gene promoters. Blood. 2012 May 3;119(18):4142-51.
Myers K, Davies SM, Harris RE, Spunt SL, Smolarek TA, Zimmerman S, McMasters R, Wagner L, Mueller R, Auerbach AD, Mehta PA. The Clinical Phenotype of Children with Fanconi Anemia Caused by Biallelic FANCD1/BRCA2 Mutations. Pediatric Blood and Cancer. 2012 Mar;58(3): 462-5.
Myers KC, Bleesing JJ, Davies, SM, Zhang X, Martin LJ, Mueller R, Harris RE, Filipovich AH, Butsch Kovacic M, Wells SI, Mehta PA. Impaired Immune Function in Children with Fanconi Anemia. Br J Haematol. 2011 Jul;154(2):234-40.
Kejian Zhang, MD, MBA Director, Molecular Genetics Laboratory 513-636-0121 email@example.com
Director, Molecular Genetics Laboratory
Molecular genetics diagnosis of inherited immunodeficiency disorders and other genetic conditions
MD: Tianjin Medical University, Tianjin, China, 1993.
MBA: College of Business Administration, University of Cincinnati, Cincinnati, OH, 2001.
Residency: Gong'an Hospital, Tianjin, China, 1993-1995.
Fellowship: Clinical Molecular Genetics Fellow, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 2002-2004.
Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz JM, Marsh R, Husami A, Kissell D, Nortman S, Chaturvedi V, Haines H, Young LR, Mo J, Filipovich AH, Bleesing JJ, Mustillo P, Stephens M, Rueda CM, Chougnet CA, Hoebe K, McElwee J, Hughes JD, Karakoc-Aydiner E, Matthews HF, Price S, Su HC, Rao VK, Lenardo MJ, Jordan MB. AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science. 2015;349:436-440.
Lindsley AW, Qian Y, Valencia CA, Shah K, Zhang K, Assa’ad A. Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation. J Clin Immunol. 2014 Nov;34(8):910-5.
Valencia CA, Indugula SR, Mathur A, Wei C, Brown J, Dell S, Cole I, Connor J, Zhang K. Misleading results from saliva samples of post bone marrow transplanted patients in exome analyses. Published Blood. 2014 Jul 24;124(4):660-1.
Zhang K, Chadrakasan S, Chapman H, Valencia CA, Husami A, Kissell D, Johnson JA, Filipovich AH. Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. Blood. 2014 Aug 21;124(8):1331-4.
Qian Y, Johnson J, Connor J, Valencia CA, Barasa N, Schubert J, Husami A, Kissell D, Zhang G, Weirauch M, Filipovich A, Zhang K. The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. Pediatric Blood Cancer. 2014;61:1034–1040.
Theru Arumugam S, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH, Zhang K. Performance Evaluation of the Next-Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss. Otolaryngol Head Neck Surg. 2013 Jun;148(6):1007-16.
Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, Villanueva J, Risma KA, Wei Q, Klein PS, et al. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood. 2011;118:5794-5798
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;55:134-140.
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;58:2892-2896.
Zhang K, Johnson JA, Biroschak J, Villanueva J, Lee SM, Bleesing JJ, Risma KA, Wenstrup RJ, Filipovich AH. Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects. Int J Immunogenet. 2007;34:231-233.
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