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Lupus

Lupus, a disabling and life-threatening autoimmune disease, affects more than 1.5 million Americans, 90 percent of whom are women. It is two to three times more common among African Americans, Native Americans, Hispanics, and Asians, than among Caucasians.

Cause

Lupus is an autoimmune disease that can affect various parts of the body, including the skin, joints, heart, lungs, blood, kidneys, and brain. Normally, the body's immune system makes proteins called antibodies to protect the body against viruses, bacteria, and other foreign materials. These foreign materials are called antigens.

In an autoimmune disorder like lupus, the immune system cannot tell the difference between foreign substances and its own cells and tissues. The immune system then makes antibodies directed against itself. These antibodies—called "auto-antibodies" (auto means "self")—cause inflammation, pain, and damage in various parts of the body.

Symptoms

The symptoms of systemic lupus erythematosus (SLE) vary widely. SLE often mimics or is mistaken for other illnesses because the symptoms come and go unpredictably. Diagnosis can be elusive, with patients sometimes suffering unexplained symptoms and untreated SLE for years. Common initial and chronic complaints are fever, malaise, joint pains, fatigue, and temporary loss of cognitive abilities.

Diagnosis

Diagnosing lupus is difficult because signs and symptoms vary considerably from person to person. Signs and symptoms of lupus may change over time and overlap with those of many other disorders. For these reasons, doctors may not initially consider lupus until the signs and symptoms become more obvious. Even then, lupus can be challenging to diagnose because nearly all people with lupus experience fluctuations in disease activity. At times the disease may become severe and at other times subside completely.

Treatment

Treatment for lupus depends on the symptoms. You should carefully discuss the benefits and risks of treatment options with your doctor. As your signs and symptoms flare and subside, you and your doctor may find that you'll need to change medicines or dosages.

Clinical Studies

Clinical studies in people with lupus are complicated by the

  • Wide range of disease manifestations
  • Relapsing-remitting nature of the disease, which results in high rates of response in groups given a placebo
  • Lack of standardized criteria for remission​

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NIAID Role in Lupus Research

NIAID-supported research on autoimmune diseases, including lupus, focuses on

  • Developing a greater understanding of the fundamental biologic principles underlying disease onset and progression
  • Developing improved animal and in vitro models of disease
  • Devising improved diagnostic tools; creating more effective interventions and preventive strategies
  • Identifying the epidemiologic profiles of autoimmune diseases

NIAID-supported studies have used cutting-edge technologies to perform genetic analyses comparing large cohorts of people with autoimmune diseases to healthy control subjects. These studies have revealed new genetic risk factors for individual autoimmune diseases including systemic lupus erythematosus (SLE), as well as gene variants that predispose 0;a person to more than one autoimmune disease. Recently, researchers found three new genetic loci for SLE.

Research Activities and Resources

Autoimmunity Centers of Excellence

The nine Autoimmunity Centers of Excellence (ACEs) conduct collaborative basic and clinical research on autoimmune diseases, including single-site and multi-site pilot clinical trials of immunomodulatory therapies and mechanism-of-action studies. ACEs support close interaction between clinicians and basic researchers, which should facilitate the identification of effective tolerance induction and immune modulation strategies to treat or prevent disease and accelerate the translation of scientific advances to the clinic. ACEs also support four clinical trials and two mechanistic studies of immunomodulatory therapies including the following:

  • A Phase I/II clinical trial of anti-CD20 for treatment of lupus. This trial is complete and analysis is in progress.
  • A Phase I clinical trial of anti-TNF for treatment of lupus nephritis. The development of this study is almost complete.
  • A preclinical study of DNase treatment is in progress and is cosponsored by the National Institute of Diabetes and Digestive and Kidney Diseases and the National Institutes of Health Office of Research on Women’s Health.

Autoimmune Disease Prevention Centers

The Autoimmune Disease Prevention Centers conduct research on the development of new targets and approaches to prevent autoimmune diseases, including lupus. These approaches are evaluated in pilot and clinical studies. The centers are a cooperative network of integrated basic, pre-clinical, and clinical research centers that

  • Conduct single-site and multi-site cooperative clinical trials and studies of mechanisms of action of tolerance induction and new immune modulation interventions in multiple autoimmune diseases
  • Accelerate early translation of basic findings into clinical application
  • Facilitate the use of clinical materials for basic research studies
  • Enhance the exchange of information between basic scientists and clinicians and among various specialists involved in treating autoimmune diseases
  • Promote a collaborative approach to clinical and basic research among multiple institutions in various geographic areas.

Immune Tolerance Network

The Immune Tolerance Network (ITN), sponsored by NIAID and the Juvenile Diabetes Research Foundation International, is an international consortium of more than 80 investigators in the United States, Canada, Europe, and Australia dedicated to the clinical evaluation of novel, tolerance-inducing therapies in autoimmune diseases, asthma and allergic diseases, and rejection of transplanted organs, tissues, and cells. The goal of these therapies is to “reeducate” the immune system to eliminate injurious immune responses and graft rejection while preserving protective immunity against infectious agents. To understand the underlying mechanisms of action of the candidate therapies and to monitor tolerance, ITN has established state-of-the art core laboratory facilities to conduct integrated mechanistic studies and to develop and evaluate markers and assays to measure the induction, maintenance, and loss of tolerance in humans.

The Multiple Autoimmune Diseases Genetics Consortium is a repository of genetic and clinical data and specimens from families in which two or more family members are affected by two or more distinct autoimmune diseases. The repository provides well-characterized material for use in research to identify genes involved in autoimmune diseases. Samples from 1,243 affected individuals and approximately 1,000 control subjects, all with associated clinical information, are available to qualified researchers.

Research projects that follow up the risk factors identified in these studies have the potential to illuminate the pathways that lead to autoimmune diseases, particularly systemic lupus erythematosus, confirm targets for novel therapies, and allow more conclusive, personalized diagnosis of disease and prediction of response to therapy in individual cases.

Networks, Consortia, and Partners

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Alliance for Lupus Research

American Autoimmune Related Diseases Association

Lupus Foundation of America

Lupus Research Institute

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Last Updated April 14, 2015