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X Monosomy in Female Systemic Lupus Erythematosus
Author(s) -
INVERNIZZI PIETRO,
MIOZZO MONICA,
OERTELTPRIGIONE SABINE,
MERONI PIER LUIGI,
PERSANI LUCA,
SELMI CARLO,
BATTEZZATI PIER MARIA,
ZUIN MASSIMO,
LUCCHI SIMONA,
MARASINI BIANCA,
ZENI SILVANA,
WATNIK MITCHELL,
TABANO SILVIA,
MAITZ SILVIA,
PASINI SIMONE,
GERSHWIN M. ERIC,
PODDA MAURO
Publication year - 2007
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1423.010
Subject(s) - monosomy , medicine , dermatology , systemic disease , systemic lupus erythematosus , lupus erythematosus , immunology , pathology , genetics , biology , karyotype , immunopathology , chromosome , antibody , disease , gene
: 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.