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A normal immune system is a powerful and finely tuned machine. Relatively small anomalies of immune cells signaling significantly increase the risk of devastating autoimmune diseases
Nunzio Bottini, M.D., Ph.D.
Associate Professor
Division of Cellular Biology

cell-bullet1.jpg "We focus on genes that control biochemical signaling inside immune cells and are involved in rheumatoid arthritis, juvenile diabetes, scleroderma and other autoimmune diseases. We try to understand how these genes work in order to identify new ways to treat autoimmune diseases." - Nunzio Bottini, M.D., Ph.D.

Nunzio Bottini, M.D., Ph.D. is a scientist in the La Jolla Institute Division of Cellular Biology and the Type 1 Diabetes Research Center. Dr. Bottini joined the La Jolla Institute from the USC Keck School of Medicine in 2009. Dr. Bottini is interested in the genetics of autoimmune diseases, and in the role of molecules called phosphatases in signal transduction.

Nunzio Bottini, M.D., 
Ph.D.Dr. Bottini received his M.D. in 1996 from the University of Rome, where he also obtained his Ph.D. and completed his internship and residency. He received postdoctoral research training in biochemistry and signal transduction at the Sanford-Burnham Medical Research Institute in La Jolla, and completed a clinical fellowship in Rheumatology at the University of California San Diego. Bottini also holds an adjunct appointment as an Associate Professor of Medicine and attending physician in the Division of Rheumatology, Allergy and Immunology of the University of California San Diego. 

Dr. Bottini serves on grant review panels for the NIH, JDRF and several other groups and also is a reviewer for various scientific journals. At the USC School of Medicine he was an Assistant Professor in the Institute for Genetic Medicine. Previously, he served as an Assistant Professor of Medicine at the University of Rome in Italy.

research focus

cell-bullet2.jpg The Bottini laboratory studies the mechanism of action of signaling molecules encoded by human autoimmune disease-predisposing genes and also analyzes signal transduction pathways in pathological specimens from patients. The goal is to dissect relevant intracellular pathways to design new methods for disease activity monitoring and to identify new treatment strategies. The laboratory specializes in the study of a family of signaling enzymes called protein tyrosine phosphatases, which regulates phosphorylation of proteins on tyrosine residues.

The first focus of the laboratory is on phosphatase genes that increase risk of autoimmune disease. Dr. Bottini was the first to report that a mutation in the PTPN22 gene, encoding a phosphatase, increases the risk of autoimmunity in humans. Currently PTPN22 is ranked as a major gene for rheumatoid arthritis, juvenile diabetes, and lupus. Dr. Bottini's laboratory is focused on understanding the mechanism of action and regulation of PTPN22 with the goal to develop personalized ways to treat disease in carriers of autoimmune-predisposing gene variants.

A second focus of the laboratory is on studying biochemical signaling (focusing in particular on the role of phosphatases) in tissue resident cells in arthritis, scleroderma and other autoimmune diseases. The goal is to develop ways to inhibit the disease promoting action of these cells to help control disease activity without depressing the ability of the immune system to fight against infections and tumors.

selected publications

cell-bullet3.jpgTyrosine Phosphatase PTPN22: Multifunctional Regulator of Immune Signaling, Development, and Disease. Annu Rev Immunol 2013

The autoimmunity-associated gene PTPN22 potentiates toll-like receptor-driven, type 1 interferon-dependent immunity. Immunity 2013

Protein tyrosine phosphatase expression profile of rheumatoid arthritis fibroblast-like synoviocytes: a novel role of SH2 domain-containing phosphatase 2 as a modulator of invasion and survival.Arthritis Rheum 2013

High-throughput screen using a single-cell tyrosine phosphatase assay reveals biologically active inhibitors of tyrosine phosphatase CD45.Proc Natl Acad Sci USA 2012

Discovery of a novel series of inhibitors of lymphoid tyrosine phosphatase with activity in human T cells. J Med Chem 2011

Autoimmune-associated PTPN22 R620W variation reduces phosphorylation of lymphoid phosphatase on an inhibitory tyrosine residue. J Biol Chem. 2010

A loss of function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. Hum Mol Genet. 2009

Staff list
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upcoming seminars
    "Zinc-induced Polymerization of Receptor at the Plasma Membrane: A New Form of Regulated Signal Transduction?"
    Wednesday 05/18/16: 12:00 PM
    "Exploring the Roles of Type-2 Cytokine-producing Mucosal Mast Cells in Allergic Disorder"
    Wednesday 06/01/16: 12:00 PM
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