Hereditary autoinflammatory diseases are heterogenous group of disorders characterized by seemingly unprovoked fever and
localized recurrent episodes of excess systemic inflammation without any pathogens stimuli. Unlike autoimmune disorders,
autoinflammatory disorders lack the production of high-titer autoantibodies or antigen-specific T cells. The most important determinants
of autoinflammatory diseases which are named also as ?hereditary periodic fevers? are abdominal pain and fever characterized with acute
and usually short attacks of serosal, synovial and cutaneous inflammation.
These disorders are caused by primary dysfunction of the innate immune system, without evidence of adaptive immune
dysregulation. The protein products of the genes which are associated with these disorders are known to control innate immunity and
apoptosis. Role of pyrin (PyD) and/or caspase recruitment domain (CARD) containing regulator and adaptor proteins in inflammation,
apoptosis, and innate immunity has been previously outlined. The inflammasome is composed of intracellular receptor NALP and ASC
adapter which stimulates caspase-1 activation. Mutations in the NALP3 inflammasome and NLR cause autoinflammatory syndromes
by increased inflammasome activity responsible for uncontrolled IL-1β production.
In this communication, we have documented molecular analysis data of the studied patient populations with autoinflammatory
disorders, and our research activities conducted on autoinflammatory disease genes. Moreover, current work also underlined the critical
significance of molecular diagnosis which refers to detailed mutation screening of autoinflammatory disease genes in particular for
mutation negative or asymptomatic individuals among at-risk populations. Since there is still way in understanding and exploring the
undefined periodic syndromes, further studies are required to discover novel inflammatory pathways.
Sinem Nalbantoglu has completed her Ph.D at the age of 27 years from Ege University and postdoctoral studies from Ege University School of
Medicine. She is now working as assistant professor in Nisantasi University. She has been publishing papers in reputed medical journals and serving
as referee in many peer-reviewed journals.
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