Frequent infections could mean you have an immune-system disorder. The conditions in this category are usually caused by genetic changes.
Primary immunodeficiency disorders — also called primary immune disorders or primary immunodeficiency — weaken the immune system, allowing infections and other health problems to occur more easily.
Many people with primary immunodeficiency are born missing some of the body's immune defenses or with the immune system not working properly, which leaves them more susceptible to germs that can cause infections.
Some forms of primary immunodeficiency are so mild they can go unnoticed for years. Other types are severe enough that they're discovered soon after an affected baby is born.
Treatments can boost the immune system in many types of primary immunodeficiency disorders. Research is ongoing, leading to improved treatments and enhanced quality of life for people with the condition.
One of the most common signs of primary immunodeficiency is having infections that are more frequent, longer lasting or harder to treat than are the infections of someone with a normal immune system. You may also get infections that a person with a healthy immune system likely wouldn't get (opportunistic infections).
Signs and symptoms differ depending on the type of primary immunodeficiency disorder, and they vary from person to person.
Signs and symptoms of primary immunodeficiency can include:
If your child or you have frequent, recurrent or severe infections or infections that don't respond to treatments, talk to your doctor. Early diagnosis and treatment of primary immune deficiencies can prevent infections that can cause long-term problems.
Many primary immunodeficiency disorders are inherited — passed down from one or both parents. Problems in the genetic code that acts as a blueprint for producing the cells of the body (DNA) cause many of the immune system defects.
There are more than 300 types of primary immunodeficiency disorders, and researchers continue to identify more. They can be broadly classified into six groups based on the part of the immune system that's affected:
The only known risk factor is having a family history of a primary immune deficiency disorder, which increases your risk of having the condition.
If you have a type of primary immune deficiency disorder, you might want to seek genetic counseling if you plan to have a family.
Complications caused by a primary immunodeficiency disorder vary, depending on what type you have. They can include:
Because primary immune disorders are caused by genetic defects, there's no way to prevent them. But when you or your child has a weakened immune system, you can take steps to prevent infections:
Your doctor will ask about your history of illnesses and whether any close relatives have an inherited immune system disorder. Your doctor will also perform a physical examination.
Tests used to diagnose an immune disorder include:
Blood tests. Blood tests can determine if you have normal levels of infection-fighting proteins (immunoglobulin) in your blood and measure the levels of blood cells and immune system cells. Abnormal numbers of certain cells can indicate an immune system defect.
Blood tests can also determine if your immune system is responding properly and producing proteins that identify and kill foreign invaders such as bacteria or viruses (antibodies).
Prenatal testing. Parents who have a child with a primary immunodeficiency disorder might want to be tested for certain immunodeficiency disorders during future pregnancies. Samples of the amniotic fluid, blood or cells from the tissue that will become the placenta (chorion) are tested for abnormalities.
In some cases, DNA testing is done to test for a genetic defect. Test results make it possible to prepare for treatment soon after birth, if necessary.
Treatments for primary immunodeficiency involve preventing and treating infections, boosting the immune system, and treating the underlying cause of the immune problem. In some cases, primary immune disorders are linked to a serious illness, such as an autoimmune disorder or cancer, which also needs to be treated.
Stem cell transplantation offers a permanent cure for several forms of life-threatening immunodeficiency. Normal stem cells are transferred to the person with immunodeficiency, giving him or her a normally functioning immune system. Stem cells can be harvested through bone marrow, or they can be obtained from the placenta at birth (cord blood banking).
The stem cell donor — usually a parent or other close relative — must have body tissues that are a close biological match to those of the person with primary immunodeficiency. Even with a good match, however, stem cell transplants don't always work.
The treatment often requires that functioning immune cells be destroyed using chemotherapy or radiation before the transplants, leaving the transplant recipient temporarily even more vulnerable to infection.
Most people with primary immunodeficiency can go to school and work like everyone else. Still, you might feel as if no one understands what it's like to live with the constant threat of infections. Talking to someone who faces similar challenges may help.
Ask your doctor if there are support groups in the area for people with primary immunodeficiency or for parents of children with the disease. The Immune Deficiency Foundation has a peer support program, as well as information on living with primary immunodeficiency.
You'll likely start by seeing your family doctor or a general practitioner. You might then be referred to a doctor who specializes in disorders of the immune system (immunologist).
Here's some information to help you get ready for your appointment.
Ask a family member or friend to come with you, if possible, to help you remember the information you're given.
For primary immunodeficiency, questions to ask your doctor include:
Don't hesitate to ask any other questions, as well.
Your doctor or your child's doctor is likely to ask you questions, including:
December 22nd, 2020