Autoinflammatory Diseases Mediated by Interferon Production

Introduction

Interferons are natural protein substance that helps the body's immune system fight infections and other diseases such as cancer. Interferons are produced in the body by white blood cells and other cells, but they can also be used in the laboratory to treat various diseases. In cancer treatment, interferon prevents cancer cells from growing and helps kill cancer cells.

There are three main types of interferons: interferon alpha, interferon beta, and interferon gamma. Interferons are a type of cytokine (proteins stimulating the immune system) and a type of immunomodulator (a substance that modifies the immune system). Autoinflammatory diseases refer to problems with the primary immune system response. Immune cells inadvertently target healthy tissues in the body and signal the body to attack them. This can lead to violent flare-ups of inflammation, leading to symptoms such as high fever, rashes, or swollen joints.

What Are the Autoinflammatory Diseases Mediated by Interferon Production?

Interferons are a family of cytokines that mediate cell-to-cell signaling to coordinate the immune response to infection. Activation of these signaling pathways leads to multi-organ inflammation. This is usually, but not always, accompanied by fever. Associated autoinflammatory diseases can arise from genetic defects anywhere along the interferon pathway, from an overproduction of cytokines to abnormal signaling by interferon receptors. Often referred to as interferonopathies, this family of diseases includes Aicardi-Goutieres syndrome and STING-associated vasculitis of infancy (SAVI). Although these syndromes are clinically diverse, questionable features include cutaneous vasculitis (disease affecting blood vessels of the skin) affecting cold-exposed areas (fingers, nose, outer ear), interstitial lung disease (scarring of lung tissue), and calcification of the basal ganglia (part of the brain).

What Are the Causes of Autoinflammatory Diseases Mediated by Interferon Production?

Autoinflammatory conditions occur when the immune system attacks healthy tissues in the body. They can result from a combination of genetics and environment. It appears that people with a genetic predisposition to autoinflammatory conditions can develop the disease if they come in contact with something in their environment that can cause it. However, the cause of autoinflammatory conditions, in most cases, is unknown. Possible triggers of autoinflammatory conditions are:

• Sunlight - Exposure to sunlight can cause lupus skin lesions and can trigger internal reactions in susceptible individuals.

• Infection - Some bacterial or viral Infections can cause autoinflammation.

• Medications - Autoinflammation can be caused by some medications of blood pressure control, anti-seizure medications, and antibiotics. People with drug-induced autoinflammation usually recover when the drugs are stopped. In rare cases, symptoms may persist even after the drug is stopped.

What Are the Risk Factors of Autoinflammatory Diseases Mediated by Interferon Production?

Researchers do not know what causes autoinflammatory diseases, but several theories indicate that an overactive immune system attacks the body after infection or injury, which has been further shown to increase the chances of developing autoinflammation.

• Genetics - Auto-inflammatory conditions tend to run in families. Having a relative with an autoimmune disease increases the risk.

• Weight - Being overweight or obese increases the risk of developing rheumatoid arthritis or psoriatic arthritis. This is because extra weight puts more strain on the joints, and the fat tissue produces inflammatory substances.

• Smoking - Research has linked smoking to many autoinflammatory diseases.

• Specific Drugs - Certain blood pressure medications and antibiotics can cause autoinflammatory conditions.

What Are the Symptoms of Autoinflammatory Diseases Mediated by Interferon Production?

Symptoms of autoinflammatory disease vary depending on the part of the body affected. Many types of autoinflammatory diseases cause redness, swelling, heat, and pain which are the signs and symptoms of inflammation. However, other diseases can also cause the same symptoms.

Symptoms of autoinflammatory conditions usually come and go. During flare-ups, the symptoms may be severe for some time. Remission may then occur. That is, symptoms improve or disappear over time. Mentioned below are some of the symptoms that a person with an interferon-mediated autoinflammatory condition might notice:

• Fever.

• Fatigue.

• Joint pain, swelling, and stiffness.

• A butterfly-shaped rash on the face.

• Skin lesions that appear to worsen with sun exposure.

• Fingers and toes that turn white or blue in stress and cold.

• Shortness of breath.

• Chest pain.

• Dry eyes.

• Headaches.

What Are the Possible Complications of Autoinflammatory Diseases Mediated by Interferon Production?

The possible complications of autoinflammatory diseases mediated by interferon production are listed below:

• Infection - Both the disease and its treatment can weaken the immune system, making people with the autoinflammatory disease more susceptible to infections.

• Cancer - Having autoinflammatory disease appears to increase the risk of cancer. However, the risks are small.

• Death of Bone Tissue - It occurs when the blood supply to the bones is reduced, often resulting in small fractures in the bones and, eventually, the bones collapsing.

• Pregnancy Complications - Women with lupus are at increased risk of miscarriage. Lupus increases the risk of high blood pressure during pregnancy and premature birth. To reduce the risk of these complications, doctors recommend postponing pregnancy until the condition is controlled for at least six months.

• Kidney - Autoinflammatory conditions can cause severe kidney damage, and kidney failure is one of the leading causes of death in patients.

• Brain and Central Nervous System - When the brain is affected by autoinflammatory conditions, an individual may experience headaches, dizziness, behavioral changes, blurred vision, and even strokes and seizures. They may have problems and sometimes find it difficult to express their thoughts.

• Blood - Autoimmune conditions can cause problems with blood circulation, such as a low number of healthy red blood cells (anemia) and an increased risk of bleeding and blood clots. It can also cause inflammation of blood vessels.

• Lungs - People suffering from autoinflammatory conditions are more likely to develop inflammation of the lining of the chest, which can make breathing difficult. Bleeding into the lungs or pneumonia is also possible.

• Heart - Autoinflammatory conditions can cause inflammation of the heart muscle, arteries, or heart membrane. The risk of cardiovascular disease and heart attack also increases sharply.

How Are Autoinflammatory Diseases Mediated by Interferon Production Diagnosed?

DNA (deoxyribonucleic acid) sequencing is a common laboratory technique that determines the exact sequence of a DNA molecule. The sequence of DNA encodes the biological information that cells use to develop and function. Since interferonopathies are hereditary genetic diseases, the conclusive diagnosis is genetic sequencing, with the identification of causative mutations. The blood sample of an individual is taken for genetic sequencing.

How Are Autoinflammatory Diseases Mediated by Interferon Production Treated?

• Medications such as Baricitinib and Ruxolitinib are selective JAK1 and JAK2 inhibitors; Tofacitinib inhibits JAK1 and JAK3 (janus kinase 2 and 3).

• Another desirable option for the treatment of type I interferonopathies is monoclonal antibodies targeting interferon alpha (IFN-α) Sifalimumab and IFNAR Anifrolumab.

• The future possibility may be stem cells which are the body’s raw materials that further divide to take the form of new cells for the correction of gene mutation.

Conclusion

Autoinflammatory diseases mediated by interferon production are a group of diseases that occurs when the body's immune system is affected by dysregulation of the normal interferon pathway. Inflammation caused by this autoinflammatory condition can affect a variety of body systems, including joints, skin, kidneys, brain, heart, lungs, and blood cells. Autoinflammation can be difficult to diagnose because its signs and symptoms resemble those of other disorders. The signs and symptoms of autoinflammation mostly resemble that of systemic erythematous lupus. Genetic sequencing is the only way to diagnose this condition. Early and proper diagnosis of this condition can prevent long-term damage to the organs.