In a normal immune system, immune cells recognize and fight invaders, like infections.
A dysregulated immune disorder occurs when the body can't control or restrain an immune response.
The body either:
- Underreacts to foreign invaders. This can cause infections to spread quickly.
- Overreacts to foreign invaders. This causes the immune cells to attack healthy cells, tissues, and organs.
Changes in genes are often the cause of immune dysregulation disorders.
Doctors don't yet know why these gene changes happen as genetic changes can occur randomly, or they can run in families.
Your Child's Exam at the PIDC
With over 450 types of immune disorders, making an exact diagnosis can be hard.
These “mystery diseases” can cause only a few symptoms in your child. Or they can cause a wide range of symptoms and health problems.
That's why children who might have an immune disorder should see doctors who strictly focus on them.
The PIDC brings together a range of rare disease experts in the varied systems immune disorders can affect, such as the:
- Immune system
- GI tract
- Liver, bile ducts, and gall bladder
- Blood, blood vessels, and heart
- Bones, muscles, joints, tendons, and other binding tissues
- Glands and hormones
- Kidneys, bladder, and the tubes that carry urine from the kidneys to the bladder
- Lungs
Our team also includes experts from the blood and marrow transplant team, who biopsy and study tissues and provide care.
Diagnosing Rare Immune Diseases
Immune disorders are rare and hard to diagnose. While doctors diagnose some children shortly after birth, others live years without a diagnosis.
At the PIDC, we look at your child's medical history and perform blood tests to get to the root of the problem. Genetic testing is also offered through PIDC's advanced lab.
Your child's doctor might have suspected an immune dysregulation because of other illnesses they've had — such as diabetes or IBD. Immune disorders can cause both.
Other issues that may mean your child has an immune disorder include:
- Lymph nodes swelling on and off.
- Problems with the liver or spleen.
- Pneumonia or other frequent infections.
- In a young child, health problems that are more common in older kids.
As we work to diagnose your child, they'll likely see many members of our team.
Along with standard blood testing, the PIDC has a research lab where we perform advanced tests that other labs don't offer. These tests help us learn more about each child's immune disorder and provide tailored treatment.
Immune Disorder Treatments
Our team takes a group approach to treatment.
As each expert meets with your child, they give their own view on your child's health. We look at all of the team's opinions when designing the best treatment plan for your child.
Treatment depends on how your child's immune disorder affects his or her health.
Immune disorder treatments may include drugs through a shot or IV. In some cases, we might suggest a blood and marrow transplant.
Just 10 years ago, people with immune disorders had very few treatment options.
Today we're able to offer newer treatments, like drugs that target distinct problems within the immune system. While they have side effects — as all drugs do — they offer better results than past treatments.
Because of the state-of-the-art testing at UPMC Children's, we can tailor precise treatment for each child. And that means there's hope for kids who suffer from these illnesses.
