The science of autoinflammatory diseases has progressed rapidly since the term
was first coined in the late 1990s in an effort to distinguish this distinct
group of illnesses from the more well-defined autoimmune diseases, such as
rheumatoid arthritis and lupus. Advances in genetic technologies have expanded
the understanding of the molecular and cellular basis of autoinflammatory diseases
and have broadened the field to include disorders that no longer fit within
the original classification. This classification was first established with
the discovery of the gene mutation responsible for an undefined familial disease
characterized by prolonged fevers and severe localized inflammation. The gene
coded for the tumor necrosis factor (TNF) receptor and the disorder is now
known as the TNF receptor-associated periodic syndrome, or TRAPS. In line with
other similar diseases, autoinflammatory disorders were defined by episodes
of seemingly unprovoked inflammation without high-titer autoantibodies or antigen-specific
T lymphocytes. Both are indicators of autoimmune diseases, which involve the
adaptive immune system. The authors of the paper appearing in the current issue
of Cell, however, argue that the definition needs to be updated. In an effort
to converge the clinical concept of autoinflammatory diseases with advances
in the basic science of immunity, they suggest a revised classification that
focuses on abnormally increased inflammation mediated predominately by the
innate immune system, with a significant host predisposition. The host predisposition
could result from genetic factors or could be triggered by gene-environment
interactions.
Reference:
Kastner DL, Aksentijevich I, Goldbach-Mansky R. Autoinflammatory
Disease Reloaded: A Clinical Perspective. Cell; 2010 March 19;140:784-790.
Who:
Lead author, Daniel L. Kastner, M.D., Ph.D., National Institute of Arthritis
and Musculoskeletal and Skin Diseases (NIAMS) clinical director and director
of translational research, is a pioneer in the field of autoinflammatory diseases
and conducts a world-renowned research program at the National Institutes of
Health in Bethesda, Md. Dr. Kastner is available to discuss the topic of autoinflammatory
diseases upon request.
Background:
Autoinflammatory diseases are a relatively new category of immune
disorders that arise from problems with the innate immune system — the body's non-specific defenses that are inborn and primed at all times to fight infection. Whereas the adaptive immune system selectively targets and fights infectious agents using antibodies, the innate immune system fights anything in the body that it recognizes as foreign or non-self with a general and immediate response. The hallmark of innate immunity is inflammation, or swelling of tissues accompanied by redness and pain. When the innate and adaptive immune systems are working together correctly, they present an effective defense against disease. However, sometimes the body attacks its own tissues by mistake. For disorders of the adaptive immune system, this is referred to as autoimmunity. For disorders of the innate immune system, the term autoinflammatory has become the gold standard. For more information about autoinflammatory diseases, visit the NIAMS Web site at http://www.niams.nih.gov/Health_Info/Autoinflammatory/default.asp.
Contact:
To schedule interviews, contact the NIAMS Office of Communications and Public Liaison at (301) 496-8190.
The mission of the National Institute of Arthritis and Musculoskeletal and Skin
Diseases, a part of the Department of Health and Human Services' National Institutes
of Health, is to support research into the causes, treatment, and prevention
of arthritis and musculoskeletal and skin diseases; the training of basic and
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SOURCE