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a Division of Internal Medicine and Liver Unit, Department of Medicine, Surgery, and Dentistry, San Paolo School of Medicine, University of Milan, Milan, Italyb Laboratory of Human Genetics, Department of Medicine, Surgery, and Dentistry, San Paolo School of Medicine, University of Milan, Milan, Italyc Clinical Immunology Unit, Department of Internal Medicine,University of Milan, IRCCS Istituto Auxologico Italiano, Milan, Italyd,e Department of Medical Sciences and Laboratory of Experimental Endocrinology, University of Milan, Milan, Italyf Division of Rheumatology, Allergy, and Clinical Immunology, University of California at Davis, Davis, California, USAg Department of Rheumatology, Gaetano Pini Orthopedics Institute, University of Milan, Milan, Italyh Statistical Laboratory, University of California at Davis, Davis, California, USA
Key Words: autoimmune thyroiditis • AITD • primary biliary cirrhosis • PBC • systemic lupus erythematosus • SLE • X monosomy
Address for correspondence: Pietro Invernizzi, M.D., Ph.D., Division of Internal Medicine and Liver Unit, San Paolo Hospital School of Medicine, University of Milan, Via di Rudinì 8,20142 Milan, Italy. Voice: +39-02-50323088; fax: +39-02-50323089. pietro.invernizzi{at}unimi.it
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease, predominantly occurring in women of childbearing age. SLE, like several other autoimmune diseases, is characterized by a striking female predominance and, although sex hormone influences have been suggested as an explanation for this phenomenon, definitive data are still unavailable. Our group recently reported an increased X monosomy in lymphocytes of women, affected with primary biliary cirrhosis (PBC), systemic sclerosis (SSc), and autoimmune thyroiditis (AITD) in comparison to healthy women, thus suggesting the involvement of this chromosome in female predominance and in the deregulation of the immune system that characterizes autoimmunity. We have now evaluated X monosomy rates in SLE using fluorescence in situ hybridization (FISH) on peripheral mononuclear white blood cells (PBMCs) from female patients compared to healthy age-matched controls. In addition, because of a previous finding of microchimerism as a pathogenetic cause of a number of autoimmune diseases, we investigated the presence of cells carrying the Y chromosome. We did not identify an increased X monosomy in women with SLE compared to controls (P = 0.3960, SLE vs. HCs, Student's t-test), thus suggesting that a different mechanism of immune deregulation might be predominant in the female population of patients with SLE.
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