Primary immunodeficiency diseases, also known as primary immune disorders or primary immunodeficiency, weaken the immune system, making it easier for infections and other health issues to emerge.
Many persons with primary immunodeficiency are born without elements of the body's immunological defenses or with a malfunctioning immune system, making them more susceptible to pathogens that can cause diseases.
Researchers have found around 300 different types of primary immunodeficiency diseases thus far. Some versions are so modest that they go undiscovered until an adult. Other kinds are severe enough that they are recognized quickly after a baby is born who is afflicted.
In many forms of primary immunodeficiency illnesses, treatments can enhance the immune system. Research is ongoing, with the goal of improving therapies and improving people's quality of life.
WHAT ARE THE SYMPTOMS OF PRIMARY IMMUNODEFICIENCY?
One of the most common symptoms of primary immunodeficiency is experiencing infections that are more frequent, stay longer, or are more difficult to treat than illnesses in people with normal immune systems. You may also get infections that a person with a healthy immune system would not (opportunistic infections).
The signs and symptoms of primary immunodeficiency disorders fluctuate based on the kind, and also vary from person to person.
Among the signs and symptoms of primary immunodeficiency are:
- Pneumonia, bronchitis, sinus infections, ear infections, meningitis, or skin infections on a regular and recurring basis
- Internal organ inflammation and infection
- Slow growth and development
- Low platelet count or anemia are examples of blood diseases.
- Cramping, loss of appetite, nausea, and diarrhea are all symptoms of digestive disorders.
- Lupus, rheumatoid arthritis, and type 1 diabetes are examples of autoimmune illnesses.
WHAT ARE THE CAUSES OF PRIMARY IMMUNODEFICIENCY?
Many primary immunodeficiency illnesses are hereditary, meaning they are inherited from one or both parents. Many of these immune system flaws are caused by errors in the genetic code (DNA), which serves as a blueprint for the production of the body's cells.
There are around 300 different forms of primary immunodeficiency illnesses, and researchers are constantly discovering new ones. They may be divided into six categories according on the portion of the immune system that is affected:
- B cell (antibody) deficits
- T-cell deficiency
- Complement deficiencies
- Deficiencies in both B and T cells
- Defective phagocytes
- Unknown (idiopathic)
WHAT ARE THE RISK FACTORS FOR PRIMARY IMMUNODEFICIENCY?
The sole known risk factor is a family history of primary immune deficiency disease, which raises your chances of developing the illness.
If you have a major immune deficiency illness and wish to start a family, you should obtain genetic counseling.
WHAT ARE THE COMPLICATIONS OF PRIMARY IMMUNODEFICIENCY?
The complications induced by a primary immunodeficiency condition differ based on the kind. They may include the following:
Infections that reoccur
Autoimmune conditions
Heart, lungs, neurological system, or digestive tract damage
Slowing growth
Greater risk of cancer
Death due to a bad infection
HOW IS PRIMARY IMMUNODEFICIENCY DIAGNOSED?
Your doctor will inquire about your medical history and whether you have any close relatives who have an inherited immune system problem. A physical examination will also be performed by your doctor.
The following tests are used to diagnose an immunological disorder:
- Blood tests: Blood tests can establish if you have normal amounts of infection-fighting proteins (immunoglobulins) in your blood as well as blood cell and immune system cell levels. Having an abnormally high number of particular cells in your blood might suggest an immune system problem.
Blood tests can also tell you if your immune system is working correctly and creating proteins that recognize and eliminate foreign invaders like bacteria or viruses (antibodies).
- Prenatal testing: Parents who have a kid with a primary immunodeficiency condition may choose to have their child checked for immunodeficiency disorders during future pregnancies. For issues, amniotic fluid, blood, or cells from the tissue that will become the placenta (chorion) are analyzed.
In certain circumstances, DNA testing is used to detect a genetic problem. The findings of the tests allow us to plan for therapy as soon as possible after delivery, if necessary.
WHAT ARE THE TREATMENTS FOR PRIMARY IMMUNODEFICIENCY?
Preventing and treating infections, increasing the immune system, and addressing the underlying cause of the immunological dysfunction are all part of the treatment for primary immunodeficiency. Primary immunological diseases are sometimes associated to a serious illness, such as an autoimmune disorder or cancer, which must also be treated.
Infection management
- Infection treatment: Infections necessitate prompt and strong antibiotic therapy. Treatment may need a lengthier course of antibiotics than is generally recommended. Infections that do not respond to treatment may necessitate hospitalization and intravenous (IV) antibiotics.
- Infection prevention: Some patients require long-term antibiotics to avoid respiratory infections and chronic lung and ear damage. Children with primary immunodeficiency may be unable to receive live virus vaccinations, such as oral polio and measles-mumps-rubella.
- Immunoglobulin therapy: Immunoglobulins are antibody proteins that help the immune system fight infections. It can be injected into a vein through an IV line or placed beneath the skin (subcutaneous infusion). Every few weeks, IV therapy is required, and subcutaneous infusion is required once or twice a week.
Treatment to restore the immune system
- Stem cell transplantation: Stem cell transplantation provides a long-term treatment for a variety of life-threatening immunodeficiencies. Normal stem cells are given to the immunodeficient person, resulting in a normally functional immune system. Stem cells can be acquired from bone marrow or from the placenta at delivery (cord blood banking).
The stem cell donor, who is often a parent or other close relative, must have body tissues that are a near biological match to the individual with primary immunodeficiency. Despite an excellent match, stem cell transplants may not always function.
Before the transplant, functional immune cells are typically killed by chemotherapy or radiation, making the transplant patient momentarily more exposed to infection.
- Gene therapy: This treatment entails extracting stem cells from a person with primary immunodeficiency, correcting the gene in the cells, and then reintroducing the repaired stem cells into the individual by intravenous infusion. There is no need to identify a suitable donor for gene therapy because the person's own cells are employed. This medication is currently used to treat just a few main immunodeficiencies, although clinical studies for many additional kinds are underway.
Treatment may include additional medications, such as enzyme replacement therapy or transplantation of the thymus, an organ found beneath the breastbone (sternum) that generates T lymphocytes.
HOW CAN PRIMARY IMMUNODEFICIENCY BE PREVENTED?
There is no method to avoid primary immune illnesses since they are caused by genetic abnormalities. However, if you or your kid has a weaker immune system, you can take the following precautions to avoid infection:
- Maintain good hygiene. After using the restroom and before eating, wash your hands with light soap.
- Get adequate rest. Try to sleep and wake up at the same time every day, and get the same amount of sleep every night.
- Control your tension. According to certain research, stress might impair your immune system. Massage, meditation, yoga, biofeedback, and hobbies can help you manage stress. Discover what works best for you.
- Avoid becoming exposed. Avoid crowds and persons who have colds or other diseases.
- Maintain your dental health. Brush your teeth twice a day at the very least.
- Eat properly. A healthy, well-balanced diet can help keep illnesses at bay.
- Engage in some physical activity. Staying active is essential for your overall health. Consult your doctor about whether activities are acceptable for you.
- Inquire with your doctor about vaccines. Determine which ones you should have.