Department of Pediatrics

Faculty

Joseph L. Roberts, MD, PhD

Assistant Professor of Pediatrics

Department:
Pediatrics

Division:
Allergy and Immunology

Mailing Address:
DUMC 2898 Durham, NC 27710

Appointment Telephone:
919-668-4000

Office Telephone:
919-684-6534

Fax:
919-681-7979

Training:
MD, Emory University School of Medicine (Georgia), 1981

Residency:
Pediatrics, Yale-New Haven Hospital (Connecticut), 1981-1984

Clinical Interests:
Primary immunodeficiency, allergic diseases, bone-marrow transplantation in SCID

Research Interests:
My overall research interests are studying T cell development and defining the molecular bases of inherited immunodeficiency diseases. We are using standard candidate gene analysis approaches as well as new high throughput genome-wide sequencing, bioinformatics and functional screening in zebrafish and murine models in our work. Using these strategies we have recently reported a new molecular etiology of severe combined immunodeficiency (SCID), CD3 zeta chain deficiency. We and others have also described cases of human SCID due to mutations in the gene encoding Janus kinase 3 (Jak3)and are examining the role of Jak3 in normal lymphocyte signaling. We have also recently found 14 patients from 13 unrelated families with SCID due to mutations in the interleukin-7 receptor Î± chain (IL-7RÎ±), a newly described etiology of SCID and are analyzing IL-7R expression and IL-7 signaling in cells from these individuals. In collaboration with Dr. Wesley Burks we are also examining changes in T cell transcription patterns following treatment for peanut allergy using genome wide oligonucleotide microarrays.

Publications:
del Blanco, B., J. L. Roberts, N. ZamarreÃ±o, N. Balmelle-Devaux and C. HernÃ¡ndez-Munain. 2009. Flexible stereospecific interactions and composition within nucleoprotein complexes assembled on the TCRÎ± gene enhancer. J. Immunol. 183:1871.

Sarzotti-Kelsoe, M., C. M. Win, R. E. Parrott, M. Cooney, B. K. Moser, J. L. Roberts, G. D. Sempowski and R. H. Buckley. 2009. Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras. Blood. 114:1445.

Jones, S. M., L. Pons, J. L. Roberts, A. M. Scurlock, T. T. Perry, M. Kulis, W. G. Shreffler, P. Steele, K. A. Henry, M. Adair, J. N. Francis, S. R. Durham, B. P. Vickery, X-P. Zhong and A. W. Burks. 2009. Clinical Efficacy and Immune Regulation with Peanut Oral Immunotherapy. J. Allergy Clin. Immunol. 124:292.

Roberts, J. L., J. P. H. Lauritsen, M. Cooney, R. E. Parrott, E. O. Sajaroff, C. M. Win, M. D. Keller, J. H. Carpenter, J. Carabana, M. S. Krangel, M. Sarzotti, X-P. Zhong, D. L. Wiest and R.H. Buckley. 2007. T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3ïº subunit of the T cell antigen receptor complex. Blood. 109:3198.

Palmer, K. P., T. D. Green, , J. L. Roberts, E. Sajaroff, M. Cooney, R. Parrott, D-F. Chen, N. L. Reinsmoen and R. H. Buckley. 2007. Unusual clinical and immunologic manifestations of transplacentally acquired maternal T-cells in severe combined immunodeficiency. J. Allergy Clin. Immunol. 120:423.

Ponda, P., S. J. Schuval, B. Kaplan, P. Logalbo, J. L. Roberts and V. R. Bonagura. 2006. Interleukin 7 receptor Î±-chain-mutation severe combined immunodeficiency without lymphopenia: correction with haploidentical T-cell-depleted bone marrow transplantation. Annals of Allergy, Asthma and Immunology 97:755.

Williams, L. W. and J. L. Roberts. 2005. Immunodeficiency Disorders. In: Atlas of Allergic Diseases. 2nd edition. Current Medicine, Philadelphia, PA., P. L. Lieberman and M. S. Blaiss, eds.

Roberts, J. L., A. Lengi, S. M. Brown, M. Chen, Y-J Zhou, J. J. O'Shea and R. H. Buckley. 2004. Janus kinase 3 (JAK3) deficiency: clinical, immunologic and molecular analyses of 10 patients and outcomes of stem cell transplantation. Blood 103:2009.

Roberts, J. L. 2004. Severe Combined Immunodeficiency. In: Hospital Physician Allergy and Immunology Board Review Manual. Turner White Communications, Inc. Wayne, PA., A. P. Knutsen and L. W. Williams, eds., p.34.

O'Shea, J. J., M. Husa, D. Li, S. Hofmann, W. Watford, J. L. Roberts, R. H. Buckley, P. Changelian and F. Candotti. 2004. Jak3 and the pathogenesis of severe combined immunodeficiency. Molecular Immunology 41:727.

Zhou YJ, Chem M, Cusack NA, Kimmel LH, Magnuson KS, Boyd JG, Roerts JL, Lengi A, Buckley RH, Geahlen RL, Candotti F, Changelian PS, O'Shea JJ. Unexpected effects of FERM domain mutation on catalytic activituy of Jak3: structural implication for Janus kinases. Mol Cell 2001 Nov;8(5):959-69.

Buckley RH, Schiff SE, Schiff RI, Markert ML, Williams LW, Roberts JL, Myers LA, Ward FE: Hematopoietic stem cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med 340:508-516, 1999.

Roberts JL, Lauzurica P, Krangel MS: Developmental regulation of VDJ recombination by the core fragment of the T cell receptor alpha enhancer. J Exp Med 185:131, 1997.

Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MH, Migone TS, Noguchi M, Markerts ML, Buckley RH, O'Shea JJ, Leonard WJ: Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science 270:797, 1995.

Kearse KP, Roberts JL, Munitz TI, Wiest DL, Nakayama T, Singer A. Developmental regulation of alpha beta T cell antigen receptor expression results from differential stability of nascent TCR alpha proteins within the endoplasmic reticulum of immature and mature T cells. EMBO J. 1994 Oct 3;13(19):4504-14.

Robert JL, Sharrow SO, Singer A: Clonal deletion and clonal anergy in the thymus induced by cellular elements with different radiation sensitivities. J Exp Med 171:935, 1990.

Roberts JL, Volkman DJ, Buckley RH: Modified MHC restriction of donor-orgin T cells in humans with severe combined immunodeficiency transplanted with haploidentical bone marrow stem cells. J Immunol 143:1575, 1989.