Scholars@Duke
Joseph Linton Roberts

Joseph Linton Roberts

Professor Emeritus of Pediatrics
Pediatrics, Allergy and Immunology
rober060@mc.duke.edu
Box 2898 Med Ctr, Durham, NC 27710
Room 101B MSRB1, Duke University Medical Center, Durham, NC 27710

Overview

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. 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.

Current Appointments & Affiliations

Professor Emeritus of Pediatrics · 2018 - Present Pediatrics, Allergy and Immunology, Pediatrics

Recent Publications

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.

Conference J Clin Invest · July 2, 2018 Ikaros/IKZF1 is an essential transcription factor expressed throughout hematopoiesis. IKZF1 is implicated in lymphocyte and myeloid differentiation and negative regulation of cell proliferation. In humans, somatic mutations in IKZF1 have been linked to the ... Full text Link to item Cite

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

Journal Article J Clin Immunol · July 2016 The purpose of this research was to use next generation sequencing to identify mutations in patients with primary immunodeficiency diseases whose pathogenic gene mutations had not been identified. Remarkably, four unrelated patients were found by next gene ... Full text Open Access Link to item Cite

Clinical application of whole-genome sequencing in patients with primary immunodeficiency.

Journal Article J Allergy Clin Immunol · August 2015 This report illustrates the value of whole genome sequencing (WGS) in elucidating the genetic cause of disease in patients with primary immunodeficiency (PID). As sequencing costs decline, we predict that utilization of next generation sequencing (NGS) in ... Full text Link to item Cite
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Recent Grants

Sublingual Immunotherapy for Peanut Allergy

ResearchCo Investigator · Awarded by National Institutes of Health · 2008 - 2013

CTSA UL

ResearchAdvisor · Awarded by National Institutes of Health · 2006 - 2012

Identification of Disease-Causing Mutations in SCID Using Exome-Wide Sequencing

ResearchPrincipal Investigator · Awarded by National Institutes of Health · 2009 - 2012

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Education, Training & Certifications

Duke University · 1992 Ph.D.
Emory University · 1981 M.D.