Bone Marrow Transplants for Primary Immunodeficiency: Costs, Outcomes, and More

A bone marrow transplant is a treatment option for some people with a life-threatening form of primary immunodeficiency (PI). This treatment can help rebuild the immune system and, in some cases, can lead to a long-term cure. First used in the 1960s, bone marrow transplants have become an important treatment option for some people with severe types of PI.

Thanks! You've successfully submitted your vote.

Sign up to view the results!

Continue with Facebook

Sign up with your email

By joining, you accept our Terms of Use, and acknowledge our collection, sharing, and use of your data in accordance with our Health Data and Privacy policies.

Already a Member? Log in

In this article, we’ll explore how bone marrow transplants can help people with PI, what the process involves, and the risks and likely outcomes. Understanding the basics of this procedure can help you have a more informed discussion with your healthcare team.

What Is a Bone Marrow Transplant?

In a successful bone marrow transplant, healthy bone marrow cells from a donor replace unhealthy bone marrow cells in a person with an illness.

Although this procedure is commonly called a bone marrow transplant (or BMT), the medical name is an allogeneic hematopoietic stem cell transplant. Allogeneic means that the stem cells come from another person. Hematopoietic refers to blood-forming cells that make all blood cells, including immune system cells. A stem cell is a type of cell that makes other cells in the body. Putting it all together, an allogeneic hematopoietic stem cell transplant is a procedure in which blood-forming stem cells from a donor are used to replace a person’s own damaged or nonfunctioning bone marrow.

Bone marrow transplants can be used to treat several different health conditions, including:

• Blood cancers like leukemia and lymphoma
• Blood disorders like aplastic anemia
• Some types of solid-tumor cancers
• Immunodeficiency disorders
• Multiple myeloma

Why Are Bone Marrow Transplants Used To Treat Primary Immunodeficiency?

People with PI often have immune cells that are missing or don’t work the way they should. These problems are usually caused by a genetic mutation (change) that affects how the immune cells develop or function. A bone marrow transplant can replace the blood-forming cells affected by the PI-causing genetic change to fix the immune system.

Bone marrow transplants can also fix problems with other types of blood cells. For example, people with Wiskott-Aldrich syndrome (WAS) can also have problems with their platelets (small blood cells that help form blood clots). After a successful bone marrow transplant, people with WAS can make normal platelets.

According to the Immune Deficiency Foundation, a bone marrow transplant may be a treatment option for people with the following types of PI:

• Severe combined immunodeficiency (SCID)
• Wiskott-Aldrich syndrome (WAS)
• Chronic granulomatous disease (CGD)
• Leukocyte adhesion deficiency (LAD)
• Immune dysregulation
• Polyendocrinopathy
• Enteropathy
• X-linked (IPEX) syndrome
• X-linked lymphoproliferative disease (XLP)
• Hyper IgM syndrome
• Combined immunodeficiency (CID)
• Hemophagocytic lymphohistiocytosis (HLH)

Limitations of Bone Marrow Transplantation for Primary Immunodeficiency

A bone marrow transplant may be able to fix immune system problems related to how blood cells are formed. However, if PI is caused by how immune cells mature once they’re formed, a bone marrow transplant is unlikely to provide a cure. For example, people with DiGeorge syndrome are born with a small or absent thymus gland. People with DiGeorge syndrome may be able to make T cells, but without a thymus gland, they can’t mature into functional immune cells.

Other types of PI where bone marrow transplantation may not be the best treatment option include common variable immunodeficiency (CVID), complement deficiencies, and agammaglobulinemia.

How Does a Bone Marrow Transplant Work?

Bone marrow transplants involve several key steps. Before beginning this process, you’ll choose a transplant center to get treatment. The healthcare providers at transplant centers have specialized experience to guide you through the process.

Finding a Donor

The first step in the bone marrow transplant process is finding a donor, which can take from a few weeks to a few months. Healthcare providers use blood tests to look for a donor with matching human leukocyte antigen (HLA) typing results. HLA proteins are found on the surface of cells to help the body tell the difference between cells that belong to the recipient and those that don’t. When the donor is a close HLA match to the recipient, there’s a lower risk of serious complications.

Bone marrow donors include:

• Matched sibling donors — A brother or sister with identical or nearly identical HLA markers
• Matched or partially matched unrelated donors — An unrelated donor with a closely matching HLA type found through a donor registry
• Haploidentical family donors — A parent or other family member who is a half-match if an HLA-matched sibling or unrelated donor can’t be found

An HLA-matched sibling is usually considered the best option for a bone marrow transplant when available.

Preparing for the Bone Marrow Transplant

To prepare for the bone marrow transplant, you’ll undergo tests to make sure you’re healthy enough for the procedure. Tests may include blood tests, imaging tests, and evaluations of the heart, lungs, and kidneys.

You’ll also undergo conditioning to increase the chances of a successful bone marrow transplant and reduce the risk of complications. Conditioning regimens use immunosuppressive drugs (like chemotherapy drugs or antibody-based drugs) to reduce the number of immune cells in your bone marrow before the transplant. In many cases today, doctors use what’s called reduced-intensity conditioning, which uses lower doses of chemotherapy and can be safer for older adults and those who might not tolerate strong treatment.

Donor Transplantation

A bone marrow transplant doesn’t involve surgery. Instead, the donor’s stem cells are infused into the recipient’s bloodstream, similar to a blood transfusion. It usually takes between 30 minutes and a few hours. However, you will need to stay in the hospital for several weeks. During this time, your healthcare team will monitor you for signs of engraftment — when the donor stem cells begin to grow and you start making healthy blood cells. They’ll also watch closely for signs of complications.

What Are the Risks of a Bone Marrow Transplant?

While bone marrow transplants offer a chance to cure PI, there are also important risks associated with this procedure, including:

• Graft failure — The donor’s stem cells don’t grow or make new blood cells as expected.
• Graft rejection — The recipient’s immune system attacks and destroys the transplanted stem cells.
• Anemia — The recipient’s red blood cell count is low.
• Bleeding — The recipient’s low platelet levels increase the risk of bleeding.
• Infection — The recipient’s weakened immune system after the procedure increases the risk of infections.
• Graft-versus-host disease (GVHD) — The donor’s transplanted cells attack the recipient’s tissues and organs.
• Organ damage — The recipient experiences liver or lung damage as a result of the conditioning regimen.

What Costs Are Involved in Getting a Bone Marrow Transplant?

Bone marrow transplants are expensive. Previous estimates place the cost of a bone marrow transplant between $80,000 and $400,000 before insurance. However, in some cases, the total cost can now be well over $1 million before insurance, as costs have been rising. Financial counselors are often key members of the transplant team. Expenses associated with a bone marrow transplant include the cost of testing, donor matching, hospital stays, and medication.

The out-of-pocket costs you need to pay depend on your insurance. Other costs to consider include:

• Health insurance copays and deductibles
• Procedures that aren’t covered by insurance
• Expenses to cover travel and lodging for the donor
• Medication copays
• Transportation to and from the transplant center
• Lodging expenses for a caregiver while the transplant recipient is staying in the hospital, which may last for several weeks

It’s important to plan ahead and work closely with your transplant team and financial counselor to understand the costs that apply to you.

What Are the Likely Outcomes of Getting a Bone Marrow Transplant for Primary Immunodeficiency?

Bone marrow transplantation is a high-risk medical procedure. Outcomes can vary widely, but overall, they’re often very good for many people with PI. Many children who have a bone marrow transplant survive to adulthood. It’s estimated that about 80 percent of people with PI survive in the long term. If the donation comes from an HLA-matched sibling, the chance of survival is nearly 100 percent.

Your likely outcome depends on several factors, including your:

• PI type
• Age
• Other medical conditions
• Relationship to the donor
• HLA match level

Many adults who had a bone marrow transplant as children have an overall good quality of life. However, long-term medical complications can occur. Your healthcare team can help you weigh the risks and benefits of bone marrow transplantation based on your individual factors.

Find Your Team

On myPIteam, people come together to learn more about life with primary immunodeficiency disorders. Have you or a loved one had a bone marrow transplant?

What advice do you have for others thinking about this treatment option? Share your experience in the comments below.