Primary Immunodeficiency in Children | Diagnosis & Treatments

How we diagnose primary immunodeficiency

The first step in treating your child is forming an accurate and complete diagnosis. To determine your child's primary immunodeficiency disorder, Boston Children's doctors will use a combination of medical history, physical examination and laboratory tests.

Medical history

  • Since these disorders are genetic, it is also important for us to obtain a full medical history of both your child and your family.

Physical examination

  • This is important to look for signs of infection or other findings that can provide clues regarding specific PIDDs.


  • Blood tests we perform will help us determine which immune system components responsible for fighting off infection are affected, such as white blood cells or antibodies. The type of abnormality identified will help determine what type of PIDD your child has.
  • Other tests such as x-rays or CT scans may also be helpful to find infections or other clues regarding specific PIDDs.

Prenatal or newborn testing

  • For mothers who have already had a child with a PID, prenatal testing can be done for subsequent pregnancies. Samples of amniotic fluid, blood or cells from the placenta are tested for PIDD in order to be prepared to start treating a child with PIDD soon after birth.
  • Currently, Massachusetts is one of only a few states in the U.S. that conducts normal newborn screening for severe combined immunodeficiency (SCID).

Read our FAQs to learn more about tests, treatment or procedures.

How we address primary immunodeficiency

There are several treatments and care options to help manage the symptoms and allow your child live a healthy and active life. The most severe forms of PIDD may be cured by hematopoietic stem cell transplantation. However, most children with PIDD do not need this.

The National Institutes of Health recognizes three main stages of treatment for PID:

  1. treat existing infections (treatment)
  2. avoid further infections (prevention)
    • proper hygiene
    • healthy diet
    • avoid exposure
    • medication compliance
  3. correct the immunodeficiency (cure)


There are several treatments we may recommend to support and improve the function of your child's immune system, such as:

  • gamma globulin (IgG) infusions - a procedure that supplements your child's immune system with additional antibodies.
  • antibiotics - medications that either target a specific infection or act as a preventive treatment
    • In cases of extreme infections, patients may need intravenous (IV) antibiotics
  • other drugs
    • Some specific PIDDs may be treated with medications that replace specific immune factors that are missing or that help defective white blood cells work better (for example, gamma interferon therapy for chronic granulomatous disease).

For some primary immunodeficiency disorders (PIDDs), these therapies can keep children healthy and active for many years. However, none of these therapies can cure the PIDD. The only known cure is hematopoietic stem cell transplantation or gene therapy.


In addition to following the recommendations your doctors give for supportive care, there are steps your family and child can take to maintain the general health of a child with PIDD. Following a healthy diet, including avoiding raw or undercooked foods that may contain bacteria, using filtered or bottled water, avoiding exposure to infection and practicing good personal hygiene will help your child stay healthy.


Hematopoietic stem cell transplantation (HSCT)

Currently, HSCT is the only non-experimental cure available. You may have heard of a bone marrow transplant (BMT), which is a form of HSCT. HSCT is a very complex treatment, and not all children with PID are candidates for this therapy. Children with PIDDswho receive stem cell transplants are treated through Dana-Farber/Children's Hospital Cancer Care's Pediatric Stem Cell Transplantation Program. The combined Dana-Farber Cancer Institute and Boston Children's Hospital transplant team has more than 20 years of experience using stem cell transplantation to treat children with severe PIDDs.

  • What is a stem cell?
  • Stem cells are single cells with two unique qualities–they can make many copies of themselves and they can develop into a variety of specialized cells. These qualities make them promising new tools in medicine, allowing patients to receive needed cells or tissues or have diseased cells or tissues replaced with healthy ones.
  • What is a hematopoietic stem cell?
    • Stem cells that can form any type of blood cell, including red blood cells, white blood cells and platelets.
  • How does HSCT work?
  • HSCT gives the hematopoietic stem cells from the donor to the patient
  • sources of hematopoietic stem cells:
  • bone marrow
  • cord blood-placenta blood obtained at birth
  • chemotherapy
  • Chemotherapy may be used to temporarily weaken the immune system so the body accepts the donor's stem cells.
  • Chemotherapy may also be used to eliminate the patient's stem cells to make room for new stem cells.
  • Who's a good donor?
  • Somebody with tissue antigens similar to your child's
  • What if the only donor I can find for my child is not a good match?
  • T- cell depletion
  • Remove the T-cells from the donor's stem cells before transplanted them to the host, or the patient.
  • Stem cells carry T-cells which are used to attack foreign tissues. If the transplanted stem cells of the donor has T- cells that do not match with the patient's tissues, the donor's T-cells may attack the patient's tissues.

Gene therapy

Currently in the experimental phase, gene therapy addresses the problem by using the best donor possible, the patient.

How does gene therapy work?

  1. Blood stem cells are isolated and removed from the patient's bone marrow.
  2. A vector, a host virus, carries a healthy copy of the affected gene into the patient's stem cells to create corrected, healthy stem cells.
  3. A virus is genetically altered into a harmless vector to carry the affected gene.
  4. Corrected stem cells are injected to the patient's body.
  5. The white blood cells that develop from the corrected stem cells produces the affected proteins correctly.

Coping and support

In addition to providing medical care, we strive to also meet all of your family's emotional and psycho-social needs. We know that unfamiliar places, especially hospitals, often create anxiety and fear for a child. Your child may feel anxiety because of their inherited condition. They may feel they are different than everyone else and want to live a normal life.

We also know this isn't an easy time for parents, who have their own fears and concerns when they learn their child has a PIDD. It may help to remember that there is nothing you could have done to prevent this condition from affecting your child. You or your child may want to seek genetic counseling to determine the risk for any future children, and to understand their options in this regard. In the long term, your child may also want to speak with a genetic counselor before starting his or her own family. Our center has accessible genetic specialists, as well as psychologists to help you navigate challenging decisions.

There's a lot of support available here at Children's for you and your family, and here are some of the ways we can help:

Patient education: From the office visit to pre-op to the recovery room, our nurses will be on hand to walk you through your child's treatment and help answer any questions you may have — How long will I be separated from my child during hospitalization? What will treatment be like? They will also reach out to you by phone, continuing the care and support you received while at Children's.

Parent to parent: Want to talk with someone whose child has been treated for PID? We can often put you in touch with other families who have been through similar experiences and can share with you their experience at Children's.

Faith-based support: If you are in need of spiritual support, we will help connect you with the Department of Spiritual Care (chaplaincy). Our program includes nearly a dozen clergy representing Episcopal, Jewish, Lutheran, Muslim, Roman Catholic, Unitarian and United Church of Christ traditions who will listen to you, pray with you and help you observe your own faith practices during your hospital experience.

Social work: Our clinical social workers have helped many other families in your situation. Your social worker can offer counseling and assistance with issues such as coping with your child's diagnosis, stresses relating to coping with illness, and dealing with financial difficulties.

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