Primary immunodeficiency disorders — also called primary immune disorders or primary immunodeficiency — weaken the immune system, allowing repeated infections and other health problems to occur more easily.
Many people with primary immunodeficiency are born missing some of the body's immune defenses, which leaves them more susceptible to germs that can cause infections.
Some forms of primary immunodeficiency are so mild they may go unnoticed for years. Other types of primary immunodeficiency are severe enough that they are discovered almost as soon as an affected baby is born.
Treatments can boost the immune system for many types of primary immunodeficiency disorders. Most children with primary immunodeficiency disorders lead relatively normal lives, and are able to go to school and play with friends.
One of the most common signs of primary immunodeficiency is an increased susceptibility to infections. You may have 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 (called opportunistic infections). There are more than 70 types of primary immunodeficiency disorders, and signs and symptoms differ depending on the particular type of disorder you have. Signs and symptoms also vary from person to person.
Signs and symptoms of primary immunodeficiency can include:
In addition to frequent infections, other problems that may occur include:
When to see a doctor
Many primary immunodeficiency disorders are inherited — passed down from one or both parents. Problems in the DNA — the genetic code that acts as a blueprint for producing the cells that make up the human body — cause many of the immune system defects in primary immunodeficiency.
There are numerous types of primary immunodeficiency disorders. They can be broadly classified into six groups based on the part of the immune system that's affected:
B cell deficiencies are the most common type of primary immunodeficiency disorder.
Currently, the only known risk factor is having a family history of a primary immune deficiency disorder, which increases your risk of having primary immunodeficiency. Unlike other acquired immune system disorders you can catch — such as HIV/AIDS — a primary immunodeficiency disorder is often inherited.
Complications caused by a primary immunodeficiency disorder vary, depending on what particular disorder you have. They can include:
Preparing for your appointment
You're likely to start by seeing your family doctor or a general practitioner. However, you may then be referred to a doctor who specializes in disorders of the immune system (immunologist).
Because appointments can be brief, and there's often a lot of ground to cover, it's a good idea to be well prepared for your appointment. Here's some information to help you get ready for your appointment, and what to expect from your doctor.
What you can do
Preparing a list of questions ahead of time can help you make the most of the time with your doctor or your child's doctor. For primary immunodeficiency, some basic questions to ask include:
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask additional questions during your appointment.
What to expect from your doctor
Tests and diagnosis
To help decide whether recurrent infections could be due to primary immunodeficiency, your doctor will begin by asking a number of questions, such as what health problems you have, how long infections last, how severe they are and whether they respond to treatment. Your doctor will also want to know whether any close relatives have an inherited immune system disorder. Your doctor will perform a physical examination to look for clues that may indicate the cause of your illness. Primary immune disorders are rare, so your doctor will want to be sure your signs and symptoms aren't caused by a more common health problem.
There are several tests used to diagnose an immune disorder. They include:
Treatments and drugs
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.
Treatment to boost the immune system
Treatment to cure primary immunodeficiency
Coping and support
Because treatment options have improved, most people with primary immunodeficiency can go to school and work like everyone else. Still, you may feel as if no one understands what it's like to live with this chronic illness and the threat of serious infections. Talking to someone else who faces the same daily challenges may be helpful.
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 Primary Immunodeficiency Resource Center of the Jeffrey Modell Foundation offers online message boards on its website where you can connect with others coping with primary immunodeficiency.
The Immune Deficiency Foundation (IDF) has a peer support program, as well as information on day-to-day living with primary immunodeficiency. For example, the IDF has a guide that you can download for school personnel so that they can better understand your child's condition.
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:
Last Updated: 2011-07-28
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