Primary Immunodeficiency


"The strong immunology research component in our Division helps us treat children with immunodeficiency disorders. We are discovering new disease mechanisms and bringing this research to bear on the diagnosis and treatment of our patients."

Francisco A. Bonilla, MD, PhD, program director of Clinical Immunology

Infections caused by organisms such as bacteria, viruses or fungi are a normal part of life. However, a pattern of recurring infections is not. Frequent infections, such as bronchitis, sinusitis or ear infections, may indicate a problem of your child’s immune system. If your child is experiencing a pattern of recurring infections, it’s important to determine whether your child has a primary immunodeficiency disorder.

Primary immunodeficiency disorders (PIDDs) are a group of inherited conditions affecting the immune system, due to a lack of, or dysfunction of white blood cells, which have important roles in fighting infections. Having a compromised immune system can be serious and can lead to chronic illness, permanent organ damage or even death. Thus, it’s critical to detect, diagnose and then treat the PID before it becomes a serious problem.

  • Around 1 in 2,000 (possibly more) people in America have a primary immunodeficiency disorder.
  • Complications may range from mild to very serious.
  • PIDDs are not contagious, but infections often are.
  • PIDDs are genetic disorders, meaning that every cell in the body carries the mutated gene, responsible for their PID.

PIDDs are sometimes difficult to detect. Diagnosing PIDD requires the expertise of a physician with specialized knowledge and experience. Since PIDDs are caused by genetic changes, these may be inherited. Thus, knowing your family medical history can be important. Sometimes, symptoms of PIDD do not arise until adulthood, and knowing the family medical history may indicate that your child should be tested, even if symptoms are not apparent.

If you’ve learned that your child has a PIDD, we know that you and your family are dealing with a great deal of anxiety and uncertainty. It’s important to remember that this disorder it is caused by genes, and is not due to anything you or your child has or has not done. More importantly, with early diagnosis and aggressive treatment, your child has an excellent chance to continue to live an active, productive life. Some of the most serious PIDDs can be completely cured with stem cell transplantation. This treatment replaces the defective white blood cells and reconstitutes the immune system.

How Children's Hospital Boston approaches primary immunodeficiency

The Clinical Immunology Program takes a multidisciplinary approach to care that ensures your child will be given thoughtful consideration of every treatment possibility. Our team integrates expertise from immunologists, infectious disease specialists hematologist-oncologists and others. We work together to diagnose, manage and treat children with PIDDs.

Our program is part of the Division of Allergy and Immunology, which conducts significant research on immunodeficiency disorders. Over the years, our investigators have made important advances in many forms of PIDD including Wiskott-Aldrich syndrome, hyper-IgM sundrome, hyper-IgE syndrome, and common variable immunodeficiency (and more). At Children’s, our care is informed by our research, and our discoveries in the laboratory strengthen the care we provide at each child's bedside. Children’s scientific research program is one of the largest and most active of any pediatric hospital in the world.

Personalized medicine and genetics
Primary immunodeficiency disorders are inherited conditions that are genetically determined, meaning your child has genes predisposing them to primary immune deficiency. Learn more about past research into these conditions and where future research is headed. Join the conversation on Children’s Vector blog.


Reviewed by , MD, PhDFrancisco A. Bonilla 
© Children’s Hospital Boston; 2011