Autoimmune Diseases (NIH)
Madeline Felkins ANTHOLOGY and HOTSHEETS
*Copyright Madeline
L. Felkins 1997,
1998, 1999, 2000, 2001, 2002, 2003 All Rights
Preface
What Are Autoimmune Diseases?
Who Is Affected by Autoimmune
Diseases?
What Are the Causes of
Autoimmune Diseases?
Are they contagious?
Are they inherited?
What other factors may
influence the development of autoimmune diseases?
How Does the Immune System Work?
T and B Cells
Macrophages and
Neutrophils
MHC and Co-Stimulatory Molecules
Cytokines and Chemokines
Antibodies
Autoantibodies
Immune Complexes and the
Complement System
Genetic Factors
How Are Autoimmune Diseases
Diagnosed?
How Are Autoimmune Diseases
Treated?
What Are Some Examples of
Autoimmune Diseases?
Rheumatoid Arthritis
Multiple Sclerosis
Immune-Mediated or Type 1
Diabetes Mellitus
Inflammatory Bowel Diseases
Systemic Lupus Erythematosus
Psoriasis
Scleroderma
Autoimmune Thyroid Diseases
What Research Is Under Way
on Autoimmune Diseases?
Resources
Glossary
Understanding Autoimmune
Diseases
Preface
This booklet contains information about autoimmune
diseases. You will not find everything
there is to know about autoimmune diseases here, however. In
fact, the information presented here may prompt you to think of
more questions about autoimmune diseases because autoimmune
diseases are complex.
We have tried to anticipate which terms will need further
definition and clarification. Those terms, when they first appear
in the text, are in italics. Italicized words and phrases are
defined in the Glossary
at the end of the booklet.
You will find more in-depth and detailed resources at your local
library or through your health care provider. The Internet is a
valuable source of information as well. Start by doing a search
on the National Institutes of Health (NIH) Web site at http://www.nih.gov
for information on the broad range of research conducted by NIH,
including autoimmune diseases.
What Are
Autoimmune Diseases?
The word "auto" is the Greek word for self. The immune
system is a complicated network of cells and cell components
(called molecules)
that normally work to defend the body and eliminate infections
caused by bacteria, viruses, and other invading microbes. If a
person has an autoimmune disease, the immune system mistakenly
attacks self, targeting the cells, tissues, and organs of a
person's own body. A collection of immune system cells and
molecules at a target site is broadly referred to as
inflammation.
There are many different autoimmune diseases, and they can each
affect the body in different ways. For example, the autoimmune
reaction is directed against the brain in multiple sclerosis and
the gut in Crohn's disease. In other autoimmune diseases such as
systemic lupus erythematosus (lupus), affected tissues and organs
may vary among individuals with the same disease. One person with
lupus may have affected skin and joints whereas another may have
affected skin, kidney, and lungs. Ultimately, damage to certain
tissues by the immune system may be permanent, as with
destruction of insulin-producing cells of the pancreas in Type 1
diabetes mellitus.
Who Is Affected by
Autoimmune Diseases?
Many of the autoimmune diseases are rare. As a group, however,
autoimmune diseases afflict millions of Americans. Most
autoimmune diseases strike women more often than men; in
particular, they affect women of working age and during their
childbearing years.
Some autoimmune diseases occur more frequently in certain
minority populations. For example, lupus is more common in
African-American and Hispanic women than in Caucasian women of
European ancestry. Rheumatoid arthritis and scleroderma affect a
higher percentage of residents in some Native American
communities than in the general U.S. population. Thus, the
social, economic, and health impact from autoimmune diseases is
far-reaching and extends not only to family but also to
employers, co-workers, and friends.
What Are the
Causes of Autoimmune Diseases?
Are they contagious?
No autoimmune disease has ever been shown to be contagious or
"catching." Autoimmune diseases do not spread to other
people like infections. They are not related to AIDS, nor are
they a type of cancer.
Are they inherited?
The genes people inherit contribute to their susceptibility for
developing an autoimmune disease. Certain diseases such as
psoriasis can occur among several members of the same family.
This suggests that a specific gene or set of genes predisposes a
family member to psoriasis. In addition, individual family
members with autoimmune diseases may inherit and share a set of
abnormal
Examples of
Autoimmune Diseases: (listed by the Main Target Organs) |
|||
Nervous Systems: | Gastrointestinal System: | ||
Multiple sclerosis | Crohn's Disease | ||
Myasthenia gravis | Ulcerative colitis | ||
Autoimmune neuropathies | Primary biliary cirrhosis | ||
such as Guillain-Barr� | Autoimmune hepatitis | ||
Autoimmune ureitis | |||
Endocrine Glands: | |||
Blood: | Type 1 or immune mediated | ||
Autoimmune hemolytic anemia | diabetes mellitus | ||
Pernicious anemia | Grave's Disease | ||
Autoimmune thrombocytopenia | Hashimoto's thyroiditis | ||
Autoimmune oophoritis and | |||
Blood Vessels: | orchitis | ||
Temporal artertis | Autoimmune disease of the | ||
Anti-phospholipid syndrome | adrenal gland | ||
Vasculitides such as | |||
Wegener's granulomatosis | Multiple Organs Including the | ||
Behcet's disease | Musculoskeletal Systems:* | ||
Rheumatoid arthritis | |||
Skin: | Systemic lupus erythematosus | ||
Psoriasis | Scleroderma | ||
Dermatitis herpetiformis | Polymyositis, dermatomyositis | ||
Pemphigus vulgaris | Spondyloarthropathies such as | ||
Vitiligo | ankylosing spondylitis | ||
Sjogren's syndrome | |||
*These diseases are also called connective tissue (muscle, skeleton, tendons, fascia, etc.) diseases. |
genes, although they may develop different autoimmune diseases.
For example, one first cousin may have lupus, another may have
dermatomyositis, and one of their mothers may have rheumatoid
arthritis.
The development of an autoimmune disease may be influenced by the
genes a person inherits together with the way the person's immune
system responds to certain triggers or environmental influences.
What other factors may
influence the development of autoimmune diseases?
Some autoimmune diseases are known to begin or worsen with
certain triggers such as viral infections. Sunlight not only acts
as a trigger for lupus but can worsen the course of the disease.
It is important to be aware of the factors that can be avoided to
help prevent or minimize the amount of damage from the autoimmune
disease. Other less understood influences affecting the immune
system and the course of autoimmune diseases include aging,
chronic stress, hormones, and pregnancy.
How Does the
Immune System Work?
The immune system defends the body from attack by invaders
recognized as foreign. It is an extraordinarily complex system
that relies on an elaborate and dynamic communications network
that exists among the many different kinds of immune system cells
that patrol the body. At the heart of the system is the ability
to recognize and respond to substances called antigens
whether they are infectious agents or part of the body (self
antigens).
T and B Cells
Most immune system cells are white blood cells, of which there
are many types. Lymphocytes are one type of white blood cell, and
two major classes of lymphocytes are T cells
and B cells. T cells
are critical immune system cells that help to destroy infected
cells and coordinate the overall immune response. The T cell has
a molecule on its surface called the T-cell
receptor. This receptor interacts with
molecules called MHC (major
histocompatibility complex). MHC molecules
are on the surfaces of most other cells of the body and help T
cells recognize antigen fragments. B cells are best known for
making antibodies. An antibody binds to an antigen and marks the
antigen for destruction by other immune system cells. Other types
of white blood cells include macrophages
and neutrophils.
Macrophages and Neutrophils
Macrophages and neutrophils circulate in the blood and survey the
body for foreign substances. When they find foreign antigens,
such as bacteria, they engulf and destroy them. Macrophages and
neutrophils destroy foreign antigens by making toxic molecules
such as reactive oxygen intermediate
molecules. If production of these toxic
molecules continues unchecked, not only are the foreign antigens
destroyed, but tissues surrounding the macrophages and
neutrophils are also destroyed. For example, in individuals with
the autoimmune disease called Wegener's granulomatosis,
overactive macrophages and neutrophils that invade blood vessels
produce many toxic molecules and contribute to damage of the
blood vessels. In rheumatoid arthritis, reactive oxygen
intermediate molecules and other toxic molecules are made by
overproductive macrophages and neutrophils invading the joints.
The toxic molecules contribute to inflammation, which is observed
as warmth and swelling, and participate in damage to the joint.
MHC and Co-Stimulatory Molecules
MHC molecules are found on all cell surfaces and are an active
part of the body's defense team. For example, when a virus
infects a cell, a MHC molecule binds to a piece of a virus
(antigen) and displays the antigen on the cell's surface. Cells
that have the capability of displaying antigen with MHC are
called antigen-presenting cells. Each MHC molecule that displays
an antigen is recognized by a matching or compatible T-cell
receptor. Thus, an antigen-presenting cell
is able to communicate with a T cell about what may be occurring
inside the cell. However, for the T cell to respond to a foreign
antigen on the MHC, another molecule on the antigen-presenting
cell must send a second signal to the T cell. A corresponding
molecule on the surface of the T cells recognizes the second
signal. These two secondary molecules of the antigen-presenting
cell and the T cell are called co-stimulatory molecules. There
are several different sets of co-stimulatory molecules that can
participate in the interaction of antigen-presenting cell with a
T cell.
Once the MHC and the T-cell receptor interact, and the
co-stimulatory molecules interact, there are several possible
paths that the T cell may take. These include T cell activation,
tolerance, or T cell death. The subsequent steps depend in part
on which co-stimulatory molecules interact and how well they
interact. Because these interactions are so critical to the
response of the immune system, researchers are intensively
studying them to find new therapies that could control or stop
the immune system attack on self tissues and organs.
Cytokines and Chemokines
One way T cells can respond after the interaction of the MHC and
the T-cell receptor, and the interaction of the co-stimulatory
molecules, is to secrete cytokines and chemokines. Cytokines are
proteins that may cause surrounding immune system cells to become
activated, grow, or die. They also may influence non-immune
system tissues. For example, some cytokines may contribute to the
thickening of the skin that occurs in people with scleroderma.
Chemokines are small cytokine molecules that attract cells of the
immune system. Overproduction of chemokines contributes to the
invasion and inflammation of the target organ, which occurs in
autoimmune diseases. For example, overproduction of chemokines in
the joints of people with rheumatoid arthritis may result in
invasion of the joint space by destructive immune system cells
such as macrophages, neutrophils, and T cells.
Antibodies
B cells are another critical type of immune system cell. They
participate in the removal of foreign antigens from the body by
using a surface molecule to bind the antigen or by making
specific antibodies that can search out and destroy specific
foreign antigens. However, the B cell can only make antibodies
when it receives the appropriate command signal from a T cell.
Once the T cell signals the B cell with a type of cytokine that
acts as a messenger molecule, the B cell is able to produce a
unique antibody that targets a particular antigen.
Autoantibodies
In some autoimmune diseases, B cells mistakenly make antibodies
against tissues of the body (self antigens) instead of foreign
antigens. Occasionally, these autoantibodies either interfere
with the normal function of the tissues or initiate destruction
of the tissues. People with myasthenia gravis experience muscle
weakness because autoantibodies attack a part of the nerve that
stimulates muscle movement. In the skin disease pemphigus
vulgaris, autoantibodies are misdirected against cells in the
skin. The accumulation of antibodies in the skin activates other
molecules and cells to break down, resulting in skin blisters.
Immune Complexes and the
Complement System
When many antibodies are bound to antigens in the bloodstream,
they form a large lattice network called an immune
complex. Immune complexes are harmful when
they accumulate and initiate inflammation within small blood
vessels that nourish tissues. Immune complexes, immune cells, and
inflammatory molecules can block blood flow and ultimately
destroy organs such as the kidney. This can occur in people with
systemic lupus erythematosus.
A group of specialized molecules that form the complement
system helps to remove immune complexes.
The different types of molecules of the complement system, which
are found in the bloodstream and on the surfaces of cells, make
immune complexes more soluble. Complement molecules prevent
formation and reduce the size of immune complexes so they do not
accumulate in the wrong places (organs and tissues of the body).
Rarely, some people inherit defective genes for a complement
molecule from their parents. Because these individuals cannot
make a normal amount or type of complement molecule, their immune
systems are unable to prevent immune complexes from being
deposited in different tissues and organs. These people develop a
disease that is not autoimmune but resembles lupus erythematosus.
Genetic Factors
Genetic factors can affect an individual's immune system and its
responses to foreign antigens in several ways. Genes determine
the variety of MHC molecules that individuals carry on their
cells. Genes also influence the potential array of T-cell
receptors present on T cells. In fact, some MHC genes are
associated with autoimmune diseases. However, genes are not the
only factors involved in determining a person's susceptibility to
an autoimmune disease. For example, some individuals who carry
disease-associated MHC molecules on their cells will not develop
an autoimmune disease.
How Are
Autoimmune Diseases Diagnosed?
The diagnosis of an autoimmune disease is based on an
individual's symptoms, findings from a physical examination, and
results from laboratory tests. Autoimmune diseases can be
difficult to diagnose, particularly early in the course of the
disease. Symptoms of many autoimmune diseasessuch as
fatigueare nonspecific. Laboratory test results may help
but are often inadequate to confirm a diagnosis.
If an individual has skeletal symptoms such as joint pain and a
positive but nonspecific lab test, she or he may be diagnosed
with the confusing name of early or "undifferentiated"
connective tissue disease. In this case, a physician may want the
patient to return frequently for follow up. The early phase of
disease may be a very frustrating time for both the patient and
physician. On the other hand, symptoms may be short-lived, and
inconclusive laboratory tests may amount to nothing of a serious
nature.
In some cases, a specific diagnosis can be made. A diagnosis
shortly after onset of a patient's symptoms will allow for early
aggressive medical therapy; and for some diseases, patients will
respond completely to treatments if the reason for their symptoms
is discovered early in the course of their disease.
Although autoimmune diseases are chronic, the course they take is
unpredictable. A doctor cannot foresee what will happen to the
patient based on how the disease starts. Patients should be
monitored closely by their doctors so environmental factors or
triggers that may worsen the disease can be discussed and avoided
and new medical therapy can be started as soon as possible.
Frequent visits to a doctor are important in order for the
physician to manage complex treatment regimens and watch for
medication side effects.
How Are
Autoimmune Diseases Treated?
Autoimmune diseases are often chronic, requiring lifelong care
and monitoring, even when the person may look or feel well.
Currently, few autoimmune diseases can be cured or made to
"disappear" with treatment. However, many people with
these diseases can live normal lives when they receive
appropriate medical care.
Physicians most often help patients manage the consequences of
inflammation caused by the autoimmune disease. For example, in
people with Type 1 diabetes, physicians prescribe insulin to
control blood sugar levels so that elevated blood sugar will not
damage the kidneys, eyes, blood vessels, and nerves. However, the
goal of scientific research is to prevent inflammation from
causing destruction of the insulin-producing cells of the
pancreas, which are necessary to control blood sugars.
On the other hand, in some diseases such as lupus or rheumatoid
arthritis, medication can occasionally slow or stop the immune
system's destruction of the kidneys or joints. Medications or
therapies that slow or suppress the immune system response in an
attempt to stop the inflammation involved in the autoimmune
attack are called immunosuppressive medications. These drugs
include corticosteroids (prednisone), methotrexate,
cyclophosphamide, azathioprine, and cyclosporin. Unfortunately,
these medications also suppress the ability of the immune system
to fight infection and have other potentially serious side
effects.
In some people, a limited number of immuno-suppressive
medications may result in disease remission. Remission is the
medical term used for "disappearance" of a disease for
a significant amount of time. Even if their disease goes into
remission, patients are rarely able to discontinue medications.
The possibility that the disease may restart when medication is
discontinued must be balanced with the long-term side effects
from the immunosuppressive medication.
A current goal in caring for patients with autoimmune diseases is
to find treatments that produce remissions with fewer side
effects. Much research is focused on developing therapies that
target various steps in the immune response. New approaches such
as therapeutic antibodies against specific T cell molecules may
produce fewer long-term side effects than the chemotherapies that
now are routinely used.
Ultimately, medical science is striving to design therapies that
prevent autoimmune diseases. To this end, a significant amount of
time and resources are spent studying the immune system and
pathways of inflammation.
What Are Some
Examples of Autoimmune Diseases?
Rheumatoid Arthritis
In people with rheumatoid arthritis, the immune system
predominantly targets the lining (synovium) that covers various
joints. Inflammation of the synovium is usually symmetrical
(occurring equally on both sides of the body) and causes pain,
swelling, and stiffness of the joints. These features distinguish
rheumatoid arthritis from osteoarthritis, which is a more common
and degenerative "wear-and-tear" arthritis.
Currently available therapy focuses on reducing inflammation of
the joints with anti-inflammatory or immunosuppresssive
medications. Sometimes, the immune system may also target the
lung, blood vessels, or eye; occasionally patients may also
develop symptoms of other autoimmune diseases such as Sjogren's
the inflammation, itching, and scaling. For more severe cases,
oral medications are used. Psoriasis is common and may affect
more than 2 out of 100 Americans. Psoriasis often runs in
families.
Multiple Sclerosis
Multiple sclerosis is a disease in which the immune system
targets nerve tissues of the central nervous system. Most
commonly, damage to the central nervous system occurs
intermittently, allowing a person to lead a fairly normal life.
At the other extreme, the symptoms may become constant, resulting
in a progressive disease with possible blindness, paralysis, and
premature death. Some medications such as beta interferon are
helpful to people with the intermittent form of multiple
sclerosis.
In young adults, multiple sclerosis is the most common disabling
disease of the nervous system. Multiple sclerosis afflicts 1 in
700 people in this country. Researchers continue to search for
triggers of the disease.
Immune-Mediated or Type 1
Diabetes Mellitus
Type 1 diabetes mellitus results from autoimmune destruction of
the insulin-producing cells of the pancreas. Insulin is required
by the body to keep the blood sugar (glucose) level under
control. High levels of glucose are responsible for the symptoms
and the complications of the disease. However, most of the
insulin-producing cells are destroyed before the patient develops
symptoms of diabetes. Symptoms include fatigue, frequent
urination, increased thirst, and possible sudden confusion.
Type 1 diabetes mellitus is usually diagnosed before the age of
30 and may be diagnosed as early as the first month of life.
Together with Type 2 diabetes (not considered an autoimmune
disease), diabetes mellitus is the leading cause of kidney
damage, loss of eyesight, and leg amputation. Close control of
sugar levels decreases the rate at which these events occur.
There is a genetic predisposition to Type 1 diabetes, which
occurs in 1 out of 800 people in the United States. Among
individuals who have a close relative with Type 1 diabetes, those
at high risk for developing disease can be identified. Efforts
are now under way to evaluate prevention strategies for these
family members at risk.
Inflammatory Bowel Diseases
This medical term is used for both Crohn's disease and ulcerative
colitis, two diseases in which the immune system attacks the gut
(intestine). Patients may have diarrhea, nausea, vomiting,
abdominal cramps, and pain that can be difficult to control.
Illness in afflicted individuals can result from intestinal
inflammation and from side effects of the drugs used for the
disease. For example, daily use of high-dose corticosteroid
(prednisone) therapy, which is needed to control severe symptoms
of Crohn's disease, can predispose patients to infections, bone
thinning (osteoporosis), and fractures. For patients with
ulcerative colitis, surgical removal of the lower intestine
(colon) will eliminate the disease and their increased risk for
colon cancer. More than 1 in 500 Americans has some type of
inflammatory bowel disease.
Systemic Lupus Erythematosus
Patients with systemic lupus erythematosus most commonly
experience profound fatigue, rashes, and joint pains. In severe
cases, the immune system may attack and damage several organs
such as the kidney, brain, or lung. For many individuals,
symptoms and damage from the disease can be controlled with
available anti-inflammatory medications. However, if a patient is
not closely monitored, the side effects from the medications can
be quite serious. Lupus occurs in 1 out of 2,000 Americans and in
as many as 1 in 250 young, African-American women.
Psoriasis
Psoriasis is an immune system disorder that affects the skin, and
occasionally the eyes, nails, and joints. Psoriasis may affect
very small areas of skin or cover the entire body with a buildup
of red scales called plaques. The plaques are of different sizes,
shapes, and severity and may be painful as well as unattractive.
Bacterial infections and pressure or trauma to the skin can
aggravate psoriasis. Most treatments focus on topical skin care
to relieve the inflammation, itching, and scaling. For more
severe cases, oral medications are used. Psoriasis is common and
may affect more than 2 out of 100 Americans. Psoriasis often runs
in families.
Scleroderma
This autoimmune disease results in thickening of the skin and
blood vessels. Almost every patient with scleroderma has
Raynaud's, which is a spasm of the blood vessels of the fingers
and toes. Symptoms of Raynaud's include increased sensitivity of
the fingers and toes to the cold, changes in skin color, pain,
and occasionally ulcers of the fingertips or toes. In people with
scleroderma, thickening of skin and blood vessels can result in
loss of movement and shortness of breath or, more rarely, in
kidney, heart, or lung failure. The estimated number of people
with any type of scleroderma varies from study to study but may
range from 1 to 4 affected individuals for every 10,000 Americans
(or as many as 1 out of 2500 individuals).
Autoimmune Thyroid Diseases
Hashimoto's thyroiditis and Grave's disease result from immune
system destruction or stimulation of thyroid tissue. Symptoms of
low (hypo-) or overactive (hyper-) thyroid function are
nonspecific and can develop slowly or suddenly; these include
fatigue, nervousness, cold or heat intolerance, weakness, changes
in hair texture or amount, and weight gain or loss. The diagnosis
of thyroid disease is readily made with appropriate laboratory
tests. The symptoms of hypothyroidism are controlled with
replacement thyroid hormone pills; however, complications from
over- or under-replacement of the hormone can occur. Treatment of
hyperthyroidism requires long-term anti-thyroid drug therapy or
destruction of the thyroid gland with radioactive iodine or
surgery. Both of these treatment approaches carry certain risks
and long-term side effects. Autoimmune thyroid diseases afflict
as many as 4 out of 100 women and are frequently found in
families where there are other autoimmune diseases.
What Research
Is Under Way on Autoimmune Diseases?
The National Institute of Allergy and Infectious Diseases (NIAID)
supports research studies on the function of the immune system in
various diseases. A basic understanding of the human immune
system is central to the understanding of the development of an
autoimmune disease (disease pathogenesis). Scientists searching
for ways to prevent and treat autoimmune disease are studying
disease pathogenesis and investigating new ways to modify the
immune system.
Specifically, investigators supported by NIAID are focusing on:
1) studies of the immune system during the progression of an
autoimmune disease; 2) analysis of the influence of genetics on
autoimmune disease expression and progression; 3) the role of
infectious agents in autoimmune diseases; 4) studies of animal
models of autoimmune diseases; and 5) the effects of therapeutic
intervention on the immune system in an autoimmune disease.
In addition, studies of a specific autoimmune disease such as
multiple sclerosis can provide new and additional insights into
the pathogenesis of autoimmune diseases affecting other organ
systems. Therefore, NIAID also supports studies on specific
autoimmune diseases in cooperation with other Institutes of the
National Institutes of Health that focus on organ-specific
autoimmune diseases.
Resources
National Institutes of Health (NIH) Resources
The following NIH components support medical research and/or
provide information on varying aspects of autoimmune diseases.
National Institute of Allergy and Infectious
Diseases
Office of Communications
Bldg. 31/Rm. 7A50
31 Center Drive, MSC 2520
Bethesda, MD 20892-2520
(301) 496-5717
http://www.niaid.nih.gov/publications/
and
http://www.niaid.nih.gov/clintrials/default.htm
(for clinical trials
information)
National Institute of Arthritis and
Musculoskeletal and Skin Diseases
Information Clearinghouse/NIH
1 AMS Circle
Bethesda, MD 20892-3675
Fast Facts: (301) 881-2731 (to receive information by fax)
Clearinghouse: (301) 495-4484
http://www.nih.gov/niams/healthinfo/
National Institute of Diabetes and Digestive
and Kidney Diseases (NIDDK)
Information Clearinghouse
1 Information Way
Bethesda, MD 20892-3560
Diabetes, Digestive, and Kidney Diseases Information:
(301) 654-3810
NIDDK Information Office (Thyroid Diseases)
Bldg. 31/Rm. 9A04
31 Center Drive
Bethesda, MD 20892-3560
(301) 496-3583
http://www.niddk.nih.gov
National Institute of Neurological Disorders
and Stroke
Office of Scientific and Health Reports
P.O. Box 5801
Bethesda, MD 20824
(301) 496-5751
http://www.ninds.nih.gov/
NIH Clinical Center
Patient Recruitment and Referral Centerfor specific NIH
clinical trials information
4 West Drive, MSC 2655
Quarters 15 D-2
Bethesda, MD 20892-2655
(301) 411-1222
http://clinicalstudies.info.nih.gov/referring_patient.html
Office of Rare Diseases, NIH
Bldg. 31/Rm. 1B03
31 Center Drive
Bethesda, MD 20892
(301) 402-4336
http://rarediseases.info.nih.gov/ord/
Other Resources Sponsored by the Department of Health and Human
Services
National Health Information Center
(800) 336-4797 or (301) 565-4167
Health Finder: http://www.healthfinder.gov
Combined Health Information Database
http://chid.nih.gov
Private Sector Organizations
The following list is astarting point for additional information
on autoimmune diseases. Many of the organizations have extensive
educational resources, local chapters, and support groups. The
Internet Web site of many organizations can refer you to other
disease-oriented groups (for example, the Arthritis Foundation
has alink to the Lupus Foundation).
American Autoimmune Related Diseases
Association
15475 Gratiot Avenue
Detroit, MI 48205
(800) 598-4668 or (313) 371-8600
http://www.aarda.org
American Diabetes Association
1660 Duke Street
Alexandria, VA 22314
(800) 232-3472 or (703) 549-1500
http://www.diabetes.org
American Liver Foundation
1425 Pompton Avenue
Cedar Grove, NJ 07009
(800) 233-0179 and (973) 256-2550
American Thyroid Association Montefiore
Medical Center
111 East 210th Street
Bronx, NY 10467
Fax: (718) 882-6085
http://www.thyroid.org
Arthritis Foundation
1650 Bluegrass Lakes Pkwy.
Alpharetta, GA 30009
(800) 283-7800 or (800) 207-8633
http://www.arthritis.org
Crohn's and Colitis Foundation of America
National Headquarters
386 Park Avenue South, 17th Floor
New York, NY 10016-8804
(800) 932-2423
(800) 343-3637 (Warehouse)
http://www.ccfa.org
Juvenile Diabetes Foundation International
120 Wall Street
New York, NY 10005-4001
(800) JDF-CURE or (800) 533-2873
http://www.jdf.org
Lupus Foundation of America
1300 Piccard Drive, Suite 200
Rockville, MD 20850-4303
(800) 558-0121 and (301) 670-9292
http://www.lupus.org/
Myasthenia Gravis Foundation of America
222 S. Riverside Plaza, Suite 1540
Chicago, IL 60606
(800) 541-5454 or (312) 258-0522
http://www.myasthenia.org/
Myositis Association of America
755 Cantrell Avenue
Suite C
Harrisonburg, VA 22801
(540) 433-7686
http://www.myositis.org
National Alopecia Areata Foundation
710 CStreet, Suite 11
San Rafael, CA 94901-3853
or
P.O. Box 150760
San Rafael, CA 94915-0760
(415) 456-4644
Fax: (415) 456-4274
http://www.alopeciaareata.com
National Multiple Sclerosis Society
733 Third Avenue, 6th Floor
New York, NY 10017-3288
(800) 344-4867 or (212) 986-3240
Fax: (212) 986-7981
http://www.nmss.org
e-mail: [email protected]
National Organization for Rare Disorders
P.O. Box 8923
New Fairfield, CT 06812-1783
(800) 999-6673
http://www.rarediseases.org/
National Psoriasis Foundation
6600 SW 92nd Avenue, Suite 300
Portland, OR 97223
(800) 723-9166 or (503) 244-7404
http://www.psoriasis.org
National Sjogren's Syndrome Association
5815 N. Black Canyon Highway, Suite 103
Phoenix, AZ 85015-2200
(602) 433-9844
http://www.sjogrens.org
National Vitiligo Foundation
P.O. Box 6337
Tyler, TX 75703
(903) 531-0074
Fax: (903) 531-9767
http://www.nvfi.org
Sjogren's Syndrome Foundation
333 N. Broadway
Jericho, NY 11753
1-800-4-SJOGRENS or (516) 933-6365
http://www.sjogrens.com
Spondylitis Association of America
P.O. Box 5872
Sherman Oaks, CA 91413
(800) 777-8189 or (888) 777-1594
http://www.spondylitis.org/
The S.L.E. Foundation
149 Madison Avenue, Suite 205
New York, NY 10016
(800) 745-8787
http://www.lupus.org
United Scleroderma Foundation
89 Newbury Street, Suite 201
Danvers, MA 01923
800) 722-HOPE
Fax: (978) 750-9902
http://www.scleroderma.org
Wegener's Foundation
3705 South George Mason Drive, Suite 1813
Falls Church, VA 22041
(703) 931-5852
Wegener's Granulomatosis Support Group
P.O. Box 28660
Kansas City, MO 64188-8668
(800) 277-9474
Fax: (816) 436-8211
http://www.wgsg.org
Glossary
antibody: a molecule
(also called an immunoglobulin) produced by a B cell in response
to an antigen. The binding of antibody to antigen leads to the
antigen's destruction.
antigen: a substance
or molecule that is recognized by the immune system. The molecule
can be from a foreign material such as a bacterium or virus, or
the molecule can be from the same organism (one's own body) and
called a self antigen.
antigen-presenting cell:
a cell that displays an antigen with an MHC molecule on the cell
surface.
autoantibody:
antibodies that are made against the body's own organs and
tissues rather than foreignparts of bacteria or viruses.
autoimmune disease:
condition in which the immune system mistakenly attacks the
body's own organs and tissues.
B cell: a type of
lymphocyte, which is an immune system cell. Among its many roles,
the B cell produces antibodies that bind antigens.
cells: the building
blocks that make up tissues, organs, and bloodstream of the body.
Immune system cells normally move throughout the bloodstream and
reside temporarily in the lymph nodes, spleen, and thymus.
chemokine: a substance
manufactured by cells and tissues, that stimulates movement and
activation of immune system cells to the area where the chemokine
is produced.
clinical trial: a
prospective, scientific evaluation in human volunteers of a
treatment regimen, device, or procedure used for the prevention,
diagnosis, or treatment of a disease.
complement system:
this series of molecules works together to perform many immune
system functions. For example, the complement system helps to
dissolve and remove immune complexes and to kill foreign cells.
co-stimulatory molecules:
pairs of molecules on the surfaces of two cells that work
together with the MHC and T-cell receptors of those cells. The
co-stimulatory molecules help to stimulate or decrease the immune
response produced by the two cells.
cytokines: chemical
substances that have varied effects on many cells of the body.
For example, some cytokines can cause growth and activation of
immune system cells.
gene: a unit of
genetic material that is inherited from a parent. A gene carries
the directions that a cell uses to perform a specific function.
immune complex: a
cluster of interlocking antigens and antibodies forming a large
network of molecules.
inflammation: a
collection of immune system cells and molecules that invade
tissues and organs as part of an immune system response.
lymphocyte: a type of
white blood cell of the immune system. T cells and B cells are
lymphocytes that look similar under the microscope but have
different functions.
macrophage: a type of
white blood cell that functions as a patrol cell and engulfs and
kills foreign infectious invaders.
MHC (major histocompatibility complex)
molecules: molecules that are found on cell
surfaces and display antigen; the antigen-MHC molecules may then
interact with a T-cell receptor.
molecule: a small
physical unit made up of chemical substances such as proteins,
sugars or fats. Molecules are the building blocks of a cell.
neutrophil: a type of
immune system cell that combats infectious agents, in particular
bacteria. Neutrophils contain granules filled with potent
chemicals that can destroy bacteria or other nearby cells when
the chemicals are released.
reactive oxygen intermediate molecules:
toxic molecules that are released by immune cells and help to
destroy invading microbes. These molecules can sometimes destroy
healthy body tissues nearby.
T-cell: a type of
lymphocyte. T cells have T-cell receptors and, sometimes,
co-stimulatory molecules on their cell surfaces. The T cell helps
to orchestrate the immune system and can issue "orders"
for other cells to make cytokines and chemokines.
T-cell receptor: a
molecule found on the surface of T cells. The T-cell receptor can
recognize and interact with a corresponding MHC molecule that is
displaying an antigen.
tolerance: a state in
which the T cell can no longer respond to antigen.