Autoimmune diseases are caused when your body's immune system attacks your healthy tissues. The reason the immune system starts to malfunction is unknown, though there is some evidence these diseases may be triggered by infections, injuries or environmental factors.

Although genes are believed to play a role, they do not accurately predict autoimmune disease. In a study of identical twins, most of the patients with an autoimmune disease had a twin who did not have the disease. If the genetic code you inherit at birth caused autoimmune disease, we would expect both twins to get the same diseases. However, there are ways in which infections, injuries, and environmental factors affect the genetic code. This is called "epigenetics", and today researchers are studying how epigenetics may lead to autoimmune disease.

Autoimmune diseases affect all parts of the human body, including muscles, skin, the nervous system, important glands, and the digestive system. Common autoimmune diseases include celiac disease, type 1 diabetes, Grave's disease, multiple sclerosis, psoriasis, Crohn's disease, rheumatoid arthritis, and systemic lupus erythematosus.

Finally, there is evidence that if you have one autoimmune disease, you are at risk for falling victim to other autoimmune diseases. This is called "comorbidity" and it represents another area of research that ARI supports.

The Autoimmune Registry is a resource for information on autoimmune conditions. An autoimmune condition is defined as a disease, syndrome, or comorbidity that is caused when the immune system malfunctions, which we also refer to as immune system dysfunction.

Diseases, syndromes, and comorbidities are often mixed together, but they are different from a scientific perspective. This page describes the difference.

Autoimmune conditions can be further classified by the specific organ they affect, or if they affect many organs. For example, type 1 diabetes is an organ-specific disease because it primarily affects beta cells in the pancreas. But when an antibody attacks cells that appear in many different organs and tissues, it is called systemic, since it affects the whole body. Lupus is an example of a systemic autoimmune disease.

Diseases

An autoimmune disease is one that is caused when the immune system attacks healthy cells in your body. To be classified as a disease, ARI looks for scientific articles that demonstrate that the immune system has antibodies that attack healthy cells. Autoimmune thyroditis was the first disease where antibodies designed to destroy thyroid cells were found.  However, it is often difficult to find cell-specific antibodies, so there are many diseases that are not accepted as autoimmune by the medical community because the cell-specific antibodies have not been detected in patients.

At least, not yet.

Overlaping Diseases, Syndromes & Subtypes

An autoimmune syndrome is a collection of signs or symptoms that appear together. A syndrome may be caused by immune system malfunction or something else (genetics, environment).  chronic fatigue syndrome is a good example.

A subtype is used when a disease appears in different ways among different people. They share enough symptoms in common to consider them as having the same disease, but the differences in severity, symptoms, and outcomes lead scientists to define subtypes. For example, jejunoileitis is a subtype of Crohn's disease that causes inflammation in the jejunum.

When a person suffers from 2 or more autoimmune diseases or symptoms at the same time, and the combination is common enough to affect enough people, we call it an overlap syndrome.  Felty Syndrome, marked by rheumatoid arthritis, an enlarged spleen (spenomagaly) and a low white blood cell count (called neutropenia or granulocytopenia)  is an example of an overlap syndrome.

Comorbidities

An autoimmune comorbidity is a medical condition that happens at the same time as an autoimmune disease. For example, the probability that women with endometriosis will have hypothyroidism is 9.6% versus 1.5% for women who do not have endometriosis. ARI therefore defines endometriosis as a comorbidity. We believe comorbidities could provide opportunities for better understanding the cause of autoimmune diseases, and that research on treatments for comorbid conditions can help patients cope with autoimmune diseases.

This list of diseases contains every disease known or suspected of being autoimmune in scientific literature. The list has been compiled from numerous sources, including “The Autoimmune Diseases”, by Noel Rose & Ian Mackay, Fifth edition, which is the primary source for the list. We also use the National Library of Medicine (“PubMed”) to find papers that support classification.

We also list a small number of diseases that are not autoimmune. These diseases are listed for one or all of the following reasons:

1. There is no known mechanism of cause for the disease

2. There are articles that discuss associations between the disease and known autoimmune diseases

3. The “disease” is a symptom that is commonly associated with known autoimmune conditions. Secondary Raynaud’s phenomenon is an example. Since medical science still defines many diseases by symptoms alone rather than cause, it is sometimes difficult to separate symptoms from actual diseases.

Scientists and researchers using this list should not include these non-autoimmune diseases when doing research on “autoimmune diseases”. However, since the Autoimmune Registry is also a resource for patients, we will include them in our list until research reveals what causes the disease.

Also, it is important to note that a person who is diagnosed with a disease we describe as “not autoimmune” may have an autoimmune disease that has not yet been diagnosed. Our job is to assess whether a disease is caused by autoimmunity - we cannot evaluate whether a particular patient is suffering from an autoimmune disease. That requires a visit to a physician.

This is a complicated question, because autoimmune diseases are complicated. To illustrate the problem, we’re going to look at one of the most common autoimmune conditions: autoimmune thyroiditis.

Thyroiditis is defined as inflammation of the thyroid gland. In many cases this inflammation is caused by a malfunction of the immune system - that is, it is an autoimmune disease. But not every case of thyroiditis is caused by autoimmune disease; it can also be caused by the flu virus or strep bacterial infection. Therefore, “autoimmune thyroiditis” is a more precise definition that specifies thyroiditis caused by autoimmunity.

In autoimmune thyroiditis, when the immune system creates antibodies that attack specific cells, there are different types of cells that are attacked. In some cases, the antibodies destroy the cells that create the hormones that the thyroid gland normally creates. This leads to the low levels of those hormones that cause the disease. But in other cases, the antibodies attack the cells that control the production of those hormones. In these cases, the controls are broken and the thyroid gland produces too much of the hormones. The first type of thyroiditis is commonly called “Hashimoto’s disease”. The second type is called “Graves’ disease”.

A subtype is defined when a significant number of people with a disease have a specific symptom while others do not. For example, in the most common forms of autoimmune thyroiditis, the thyroid gland is attacked by the immune system. Some patients develop swollen thyroid glands, and are given a diagnosis of “Hashimoto’s disease” or “Hashimoto’s thyroiditis”. Other patients do not experience that swelling, and are given a diagnosis of “Ord’s thyroiditis”. Therefore, Ord’s thyroiditis is a subtype of autoimmune thyroiditis

Autoimmune diseases are difficult to diagnose and often appear different in different patients. The result is that many of these diseases are “discovered” more than one time, and consequently are named more than one time. Trying to piece together the diseases that are the same and those that are different is a challenge, and it is subject to debate because not everything in medicine is clear cut.

Notes:

1. If disease has its own SNOMED Code, we classify it as a subtype.

2. If a subtype has its own prevalence statistics, it will appear even when the “Hide Synonyms” is checked. Otherwise, synonyms and subtypes are hidden when that is checked.

Antibody Evidence
This category includes the presence of specific autoantibodies in serum, which are produced by the immune system against the body's own tissues. Testing for these antibodies can help diagnose autoimmune diseases, as their levels often correlate with disease activity. Common examples include rheumatoid factor (RF) in rheumatoid arthritis and anti-nuclear antibodies (ANA) in systemic lupus erythematosus (SLE). The detection of these antibodies is critical in confirming autoimmune diagnoses and guiding treatment strategies.
T Cell Evidence
T cell evidence involves the identification and characterization of autoreactive T cells that attack the body's own cells. This can be assessed through various methods, including flow cytometry and functional assays, to evaluate T cell activation and cytokine production. Elevated levels of specific T cell subsets are often associated with autoimmune conditions. Understanding T cell involvement helps in elucidating the mechanisms driving autoimmune responses and developing targeted therapies.
Immune-Mediated Evidence
Immune-mediated evidence refers to the assessment of immune system dysregulation leading to tissue damage. This category includes inflammatory markers, histopathological findings, and cytokine profiles indicative of immune-mediated injury. Conditions like multiple sclerosis and inflammatory bowel disease exhibit significant immune-mediated pathology. Evaluating these markers aids in understanding disease mechanisms and monitoring treatment efficacy.
Antibody Suspected Evidence
Antibody suspected evidence arises when clinical symptoms suggest an autoimmune disease, but specific antibodies have not been definitively identified. In such cases, a broader range of autoantibodies may be tested, and clinical correlation is emphasized. This category often requires further investigation to establish a diagnosis, potentially leading to the identification of novel or less common autoantibodies. This approach ensures a comprehensive evaluation of autoimmune conditions when traditional antibody tests are inconclusive.
Unconfirmed
Certain conditions are autoinflammatory and/or suspected to be autoimmune in nature, but there is yet sufficient evidence to support their classification as autoimmune. We've decided to include these medical conditions as unconfirmed in our registry.

The information on our website is provided to facilitate and encourage, and not in any way replace, advice and care from a patient’s healthcare professionals.

There are over 150 disease profiles on our list. All were prepared by volunteers, most of whom are not scientists. ARI’s Scientific Board has not reviewed these profiles. ARI’s Executive Team regularly reviews them, but it is not our only responsibility. If you find errors, please accept our apologies and please report them so we can correct them.

Name:

Many diseases have more than one name. We try to include all names that a patient may have been given for their disease so they can find information on our website and elsewhere. We used to include abbreviations (such as SLE) but those are being phased out since there are so many and they often are not unique.

Until the release of this list, it was difficult to find a clearinghouse for disease names. We are hoping this list will lead to standardized use of the disease names we use. We have 3 rules for naming:

1. We prefer scientific names over the name of a person who discovered the disease

2. We do not use acronyms or abbreviations (e.g., “systemic lupus erythematosus”, not “lupus”)

3. When needed, we use Arabic numerals in diseases that have numbers (for example, “autoimmune polyglandular syndrome 2”, not “PAS III”)

Patient Groups:

To appear in our profile, a patient group must be a nonprofit organization. It must also be focused on the disease and not a general organization that addresses a large number of diseases.

Bloggers:

We check to make sure that bloggers are not selling products, that they or a loved one suffers from the disease, and that there has been a post within the last year. If you know of a blogger we have missed, please contact us.

Prevalence/Incidence:

Prevalence statistics are provided in US Cases. More details can be found in the Autoimmune Diseases List. If you find errors or updated information, please report to us so we can correct the website.

Symptoms:

In the Autoimmune Registry Disease Profiles we include a list of symptoms.   A symptom is something reported by a patient, such as pain, stiffness, fatigue.  A sign is something observed by someone who is not the patient, such as a doctor or other medical practitioner. 

In our Disease Profiles, we have tried to include only symptoms - things a patient can detect. 

For details on the graphs included in each tab, please visit here.

Supporting research on autoimmune diseases is our mission. To obtain a free copy of the list that includes codes from the Systematized Nomenclature Of Medicine (SNOMED) as well as other information, please contact us below.