Overview

What is primary immunodeficiency disease (PIDD)?

Primary immunodeficiency refers to a group of more than 100 disorders affecting one or more parts of the immune system. Primary immunodeficiency is also called primary immunodeficiency disease or disorder (or PIDD). They prevent the immune system from functioning properly. They make you more susceptible to infection and certain diseases.

PIDD results from genetic mutations (changes) that are usually inherited, or passed down, within families. Treatment focuses on preventing and managing infections and replacing missing or defective immune system components.

Who is likely to have primary immunodeficiency disease (PIDD)?

Anyone can develop PIDD. In most cases, primary immune deficiencies develop before age 20. PIDD is more common in men.

Symptoms and Causes

What causes primary immunodeficiency disease (PIDD)?

PIDD results from genetic mutations affecting one or several components of the immune system, including cells and proteins. These mutations may cause parts of the immune system to be:

Present in lesser quantities than normal.
Defective.
Totally absent.

In 50-60 percent of cases, PIDD relates to defects in B lymphocytes (B cells). These immune system cells make antibodies, specific proteins in the body. The immune system uses antibodies to destroy pathogens (disease-causing agents) like bacteria or viruses.

What are the symptoms of primary immunodeficiency disease (PIDD)?

Having repeated or unusual infections that are difficult to treat are the first signs of PIDD for many people. Other signs suggesting primary immune deficiency may include:

Enlarged spleen or swollen lymph nodes
Weight loss or poor growth
Multiple courses of antibiotics needed to overcome infections
Family history of primary immunodeficiency
Developing problems after receiving a live vaccine

Diagnosis and Tests

How is primary immunodeficiency disease (PIDD) diagnosed?

Your doctor diagnoses PIDD based upon your personal and family medical history, a physical examination, and laboratory testing.

To confirm your diagnosis, your doctor may order tests that include:

Blood tests to identify specific immune system abnormalities.
Genetic tests to find mutations on genes.
Flow cytometry, which uses a special laser to examine samples of immune system cells.

Management and Treatment

How is primary immunodeficiency disease (PIDD) treated?

If you have PIDD, your treatment goals will include managing current infections and preventing future infections. Your exact treatment depends on the type of infection.

Your doctor may prescribe medications, including:

Antibiotics to prevent or clear bacterial infections.
Antivirals to help you recover from infections caused by viruses.
Immune globulin, which may be given intravenously (IV) or subcutaneously (SC), to replace some types of immune system components.

Occasionally, people need surgery to manage complications from infections. For instance, a surgeon can drain an abscess to relieve discomfort and help you heal. An abscess is a collection of pus that forms inside body tissues or organs. Pus is made of dead white blood cells from your body’s infection-fighting efforts.

In some cases, your doctor may recommend stem cell transplantation to replace defective or absent immune system components. During a stem cell transplant, your doctor uses stem cells (cells that can turn into other kinds of cells) from a donor and transfers them into your body. These stem cells eventually become normal immune system cells.

What complications are associated with primary immunodeficiency disease (PIDD)?

PIDD may increase your risk for developing complications later in life. People may develop an autoimmune disorder or certain types of cancer. Left untreated, PIDD may result in unusually severe infections.

Prevention

Can primary immunodeficiency disease (PIDD) be prevented?

There is no way to prevent PIDD since these disorders result from genetic mutations.

Outlook / Prognosis

What is the prognosis (outlook) for people with primary immunodeficiency disease (PIDD)?

With treatment, most people with PIDD live healthy lives. In some cases, you will have to take medication for the rest of your life. You should also try to avoid infection. Some tips for doing this include:

Practicing good hand hygiene—wash your hands with soap and water. Do this before and after eating, after using the toilet, after touching pets and after touching anything dirty.
Avoiding crowds and sick people.
Following your doctor’s instructions on vaccinations.
Making sure to get enough rest.
Eating sensibly.

Living With

When should I call my doctor if I have or think I have primary immunodeficiency disease (PIDD)?

If you have an infection that does not go away, is unusually severe, or keeps coming back, contact your doctor for an evaluation to determine if you have PIDD. If you know you have PIDD, contact your doctor immediately if you have a fever or some type of infection. This is necessary to prevent complications.

Resources

Are there resources for people with primary immunodeficiency disease (PIDD)?)

You may find the following to be helpful:

Cleveland Clinic Menu

Primary Immunodeficiency