Immunology

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Our immune system is the first line of defence for pathogens coming into the body and autoimmune conditions. Understanding genetic factors impacting immune functions could be of great help in mitigating risks for underlying autoimmune conditions.

Immunology

Immunology

Autoimmune Disorders

Lichen Planus Learn More

What exactly is Lichen Planus?
Lichen planus is an autoimmune disease that produces swelling and irritation in the skin, hair, nails and mucous membranes by attacking skin cells or mucous membranes. Lichen planus typically manifests as a flat, purple, itchy lesion. It most commonly affects middle-aged individuals or women. Lichen planus can arise in conjunction with other autoimmune illnesses.

Dermatomyositis Learn More

Definition of Dermatomyositis
Dermatomyositis is an uncommon condition that causes muscle weakness and a unique skin rash. Small blood veins in muscle tissue are particularly vulnerable. The body incorrectly assaults its own tissue, resulting in inflammatory alterations in the muscles. It eventually leads to the breakdown of muscle fibres due to the presence of inflammatory cells surrounding them, resulting in an autoimmune disorder. Dermatomyositis is caused by genetic variations, environmental conditions and infections.

Systemic Sclerosis Learn More

Explaining Systemic Sclerosis?
Systemic sclerosis, often known as scleroderma, is an autoimmune disease that causes the skin and connective tissues to harden and tighten. It is caused by an excess of collagen production and accumulation in various body tissues. Collagen is a fibrous protein found in connective tissues throughout the body, including our skin. The illness affects not only the skin but also the blood vessels, muscles, digestive system, heart, lungs, kidneys and other organs.

Interstitial Cystitis Learn More

What is Interstitial Cystitis?
Interstitial cystitis is a chronic and painful bladder ailment. It puts pressure on the bladder, which causes pain. There is pain and discomfort in the pelvic area that can range from minor to severe. Interstitial cystitis can also induce changes in urine frequency and urgency. It's a discomfort in the bladder syndrome.

Sjogren's Syndrome Learn More

What exactly is Sjogren's Syndrome?
Sjogren's syndrome is an autoimmune, inflammatory condition that mostly affects mucus-producing glands such as tear glands (lacrimal glands) and salivary glands, however it can affect other regions of the body as well. Sjogren's syndrome can produce dryness and reduced tear and saliva production. It may be linked to other autoimmune illnesses such as rheumatoid arthritis, Systemic Lupus Erythematosus (SLE) and others.

Autoimmune Hepatitis Learn More

Information about Autoimmune Hepatitis?
Autoimmune hepatitis is a chronic disease in which the body's immune system destroys its own cells, causing liver damage. This results in liver cirrhosis and, ultimately, liver failure. There are two forms of autoimmune hepatitis: type 1 (common in all age groups) and type 2 (frequent in children and young adults). Other autoimmune disorders may or may not accompany autoimmune hepatitis.

Autoimmune Pancreatitis Learn More

Explanation on Pancreatitis?
Pancreatitis is a condition in which the pancreas becomes inflamed. The pancreas suffers considerable harm when the body's immune system attacks it. The pancreas' function is consequently compromised, resulting in digestive issues and an imbalance in the hormones that regulate blood sugar (glucose) levels. There are two forms of pancreatitis: IgG4-related pancreatitis, which affects many organs such as the bile duct in the liver, salivary glands, lymph nodes and kidneys and type 2 (also known as idiopathic duct-centric pancreatitis), which usually affects the pancreas.

Antiphospholipid Syndrome Learn More

Definition of Antiphospholipid Syndrome
Antiphospholipid syndrome (APS) is an autoimmune disorder that frequently results in the development of antibodies that cause blood clots. The immune system targets the proteins in the blood, causing antibodies to develop, which then causes clots to form. These clots occur in arteries or veins throughout the body, including the legs, kidneys, lungs and brain. It is a leading cause of miscarriages and stillbirths among pregnant women. Certain genetic variants can enhance a person's susceptibility to antiphospholipid syndrome.

Systemic Lupus Erythematosus Learn More

What exactly is Systemic Lupus Erythematosus?
Systemic Lupus Erythematosus (SLE), sometimes known as 'lupus,' is an autoimmune illness in which the body's immune system erroneously assaults healthy cells and tissues, causing damage to the many affected organs. It can cause problems with the joints, brain, skin, lungs, kidneys and blood vessels. Infections, malignancies, bone tissue damage, pregnancy problems and other organ-related disorders are more likely in people with this illness.

Autoimmune Hemolytic Anemia Learn More

Description of Autoimmune Hemolytic Anaemia
Autoimmune hemolytic anaemia is a very uncommon autoimmune disorder. Autoantibodies are produced by the immune system and assault red blood cells. Red blood cells transport oxygen from the lungs to the rest of the body's organs. The quantity of red blood cells is reduced in this disease, resulting in anaemia (lack of haemoglobin). The severity of anaemia is determined by the extent of red blood cell breakdown.

Mixed Connective Tissue Disease Learn More

Defining Mixed Connective Tissue Disease
Mixed Connective Tissue Disease (MCTD), often known as overlap disease, is a grouping of several illnesses. The most common clinical characteristics are those of systemic lupus erythematosus (SLE), scleroderma and myositis. Sjogren's syndrome is also seen in a small number of persons. The immune system assaults the body's own fibres, which are responsible for the body's support and framework. Certain genetic variants are involved in the development of mixed connective tissue disease.

Discoid Lupus Learn More

What exactly is Discoid Lupus?
Discoid Lupus is a severe autoimmune illness that affects the skin, resulting in the formation of a red, scaly coin-shaped lesion. When exposed to sunshine, these rashes worsen. The immune system attacks healthy skin cells and causes rash formation. Because it does not affect internal organs, discoid lupus differs from systemic lupus. Some of the variables that may worsen the illness are stress, infection and trauma.

Giant Cell Arteritis Learn More

What is Giant Cell Arteritis?
Giant Cell Arteritis, also known as temporal arteritis, is an uncommon illness in which the blood arteries of the head, particularly the temples, become inflamed. Inflammation then reduces blood flow and can harm essential tissues and organs. Further injury can also result in permanent visual loss. It is most common in adults between the ages of 70 and 80.

Pemphigoid Learn More

What exactly is Pemphigoid?
Pemphigoid is a rare autoimmune illness that causes skin rashes and mucus membrane blisters on the legs, arms and belly. The body manufactures autoantibodies by mistake, causing a chain reaction that results in a separation between the inner layer of tissue and the skin above it. Various forms have been recorded depending on the site of blister development, including bullous (arms and legs), cicatricial (mucous membrane of eyes, mouth and nose) and pemphigoid gestations (occurs during pregnancy). It can occur at any age, including children, but it primarily affects the elderly.

Inflammatory Myopathy Learn More

Description of Inflammatory Myopathy
Inflammatory Myopathy is a category of autoimmune chronic disorders that induce muscle inflammation, as well as muscle weakening and pain. Dermatomyositis, polymyositis and inclusion body myositis (IBM) are the three kinds of inflammatory myopathy. Because it is an autoimmune disease, the immune system of the body targets the muscles. It is an uncommon condition that affects both adults and children.

Uveitis Learn More

What exactly is uveitis?
Uveitis is an inflammation of the uvea, the central layer of the eye. Autoimmune uveitis is characterised by inflammatory alterations in the eye tissue generated by an autoimmune reaction to self-antigens or by an inflammatory reaction in response to an external stimulation. It's linked to a systemic autoimmune or autoinflammatory disorder. The location of the inflammation in the eye determines the type of uveitis. There are four types of uveitis: anterior (front), posterior (rear), intermediate (middle) and pan-uveitis (all areas of the eye).

Microscopic Polyangiitis Learn More

Definition of Microscopic Polyangiitis
Microscopic polyangiitis (MPA) is a rare autoimmune illness that causes blood vessel inflammation. Inflamed arteries expand and weaken and they may rupture, resulting in tissue bleeding. This may result in further organ damage. Some of the most typically damaged organs are the kidneys, lungs, skin, joints and nerves. The immune system is crucial in the development of microscopic polyangiitis.

Inflammatory Disorder

Behcet's Disease Learn More

Exactly what is Behcet's Disease?
Behcet's Disease is an uncommon kind of vasculitis that causes inflammation of blood vessels of all sizes and types throughout the body, including veins and arteries. It is an autoimmune illness in which the body's immune system incorrectly assaults its own blood vessel cells, causing inflammation. Behcet's Disease is thought to be caused by a combination of genetic and environmental causes. Environmental variables, such as Helicobacter pylori infection, enhance an individual's susceptibility to Behcet's Disease.

Description of Test

What genetic diagnostics can offer inherited immunodeficiency patients? Accurate genetic immunodeficiency diagnosis, paired with a comprehensive illness phenotype, is critical in characterising these rare disorders. It also enhances therapy and follow-up plans for patients and their families. When family members are identified as being at risk, it is possible to initiate preventive therapies and/or offer lifestyle advice. It also justifies routine healthcare professional follow-ups. Genetic testing can also aid with family planning.

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