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ABSTRACT<br />

Investigating of the Frequency of Pemphigus Autoantibodies in the First-Degree<br />

Healthy Relatives of Patients with Pemphigus<br />

Pemphigus is an autoimmune blistering disease characterized by circulating<br />

autoantibodies against the keratinocyte cell surface. The evidences indicate that genetic<br />

and environmental factors may play a role in the aetiopathogenesis of the disease.<br />

Pemphigus is associated with alleles of HLA. The pemphigus autoantibodies were also<br />

demonstrated in the sera of the first-degree healthy relatives of patients with pemphigus<br />

in previous studies in different populations<br />

In this study to determine role of the hereditary factors in aetiopathogenesis of the<br />

disease in our region, frequency and existence of pemphigus autoantibodies were<br />

investigated in sera and in skin in the first-degree healthy relatives of the patients with<br />

pemphigus by using autoantibody tests such as immunofluorescence and ELISA.<br />

Sera and skin samples which were obtained from 68 first-degree healthy relatives of the<br />

29 patients with pemphigus were examined by using ELISA and immunofluorescence<br />

tests.<br />

The titers of 1/20 and above of circulating antibodies in sera were found as statistically<br />

significant between healthy relatives and healthy controls in rat esophagus substrates.<br />

But there were no significant differences between titers of both groups in the substrates<br />

of monkey esophagus. ELISA was performed to 32 healthy relatives. The anti-<br />

desmoglein 3 antibodies were detected only in one relative. Direct immunofluorescence<br />

test was performed to 13 healthy relatives. All samples were determined as negative.<br />

As a result of our study the frequency of the pemphigus autoantibodies was not high in<br />

the first-degree healthy relatives of the patients with pemphigus. It was only found to be<br />

statistically significant in certain substrates and titers. By considering these findings, we<br />

concluded that the hereditary factors seem to effect to aetiopathogenesis of the<br />

pemphigus in limited degree in our region.<br />

Keywords: Autoantibodies, familial, hereditary, pemphigus<br />

vii

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