What Is Bare Lymphocyte Syndrome?

Bare lymphocyte syndrome (BLS) is an inherited condition of the immune system, and is known as a "primary immunodeficiency."

Children inherit the BLS gene from their parents. Both must carry the genetic mutation for BLS, but may not have symptoms of the disease.

The body's immune system is responsible for fighting infections and anything it sees as foreign invaders to the body.

In BLS, the body has a shortage of immune proteins called major histocompatibility complex (MHC) class I and II proteins. MHC proteins attack bacteria or viruses that enter the body.

Doctors also call BLS MHC class II deficiency or HLA class I deficiency.

How Common is BLS?

BLS is a rare disease.

Since BLS symptoms are much the same as symptoms of other childhood illnesses, doctors don't know how many people have the disease.

Bare Lymphocyte Syndrome Symptoms

Depending on how severe the disease is, children may have symptoms before one year of age or not until later in childhood.

BLS symptoms may be longer-lasting and more severe than those of other childhood diseases.

Some symptoms of BLS are:

• Respiratory infections that keep coming back, including sinus and lung infections.
• Skin infections that don't respond well to treatment.
• Chronic diarrhea.

Complications of BLS

Children with primary immune deficiencies like BLS are:

• More prone than others to getting infections.
• Slower to clear infections from their bodies.
• At risk for recurrent, severe lung infections that can cause permanent damage to other organs such as the lungs and liver. This, in turn, causes severe health problems into adulthood.

Diagnosing Bare Lymphocyte Syndrome

Doctors diagnose BLS through blood tests. Testing for certain immune markers in the blood lets us see how well the immune system is functioning.

Your child may also need a chest x-ray to see whether BLS has caused damage to the lungs.

We also offer genetic testing at UPMC Children’s Hospital of Pittsburgh of UPMC.

Bare Lymphocyte Syndrome Treatment

The goals of BLS treatment are to:

• Control the symptoms of this disease.
• Avoid infections.
• Improve your child's quality of life.

Children with BLS may need aggressive treatment for any infections they have. If your child doesn't have any infections, your doctor might prescribe antibiotics to prevent them.

Your child needs to avoid live vaccines and may need IVIG therapy.

If BLS is causing severe health problems such as lung failure, your child may benefit from a:

• Bone marrow transplant
• Cord blood transplant
• Or even a lung transplant

The Hillman Center for Pediatric Transplant has the only program in the world that offers tandem lung and bone marrow transplantation.

We also pioneered a reduced-intensity bone marrow transplant program. The program helps reduce the negative effects a bone marrow or stem cell transplant has on the body's organs.

Because transplants are high-risk treatments, your child may need to remain on lifelong medication.

Paul Szabolcs, MD

Chief, Bone Marrow Transplantation and Cellular Therapies

Dr. Szabolcs is a pioneer in reduced-toxicity/intensity unrelated donor cord blood transplant for inborn errors of immunity. He's the first to prove the feasibility of sequential lung and bone marrow transplantation from the same unrelated deceased donor.

Your Child's BLS Consult and Care: What to Expect

If a doctor diagnosed your child with bare lymphocyte syndrome, we want you to know you're not alone. The Center for Rare Disease Therapy is here to help.

To make an appointment for your child or refer a patient for BLS care, contact us by:

• Phone at 412-692-7273
• Email at rarecare@chp.edu

Here’s what you can expect when you come to us for your child's first BLS consult.

How soon can I get an appointment for my child's bare lymphocyte syndrome?

In most cases, we can see a new patient within 1 to 2 weeks.

We'll ask the referring doctor to send your child's medical records so we can review them before your visit.

What should I expect at my child's first visit for BLS?

You can expect your first visit to take from 4 to 6 hours.

Your child will receive a complete assessment from Paul Szabolcs, MD, chief of Bone Marrow Transplantation and Cellular Therapies.

Dr. Szabolcs will make or confirm a precise diagnosis and find out how much the disease has progressed.

Because we work as a team here at the center, other doctors and staff might see your child during your visit.

These may include specialists in:

• Genetic diseases
• Brain diseases
• Child development
• Hearing
• Physical therapy

What are the next steps after my child's visit to the Center for Rare Disease Therapy?

Members of your child's BLS care team will talk with you about:

• Likely next steps for your child.
• Options for treating bare lymphocyte syndrome.
• Ways to care for your child at home to help improve his or her quality of life.

If surgery might be an option for treating your child's BLS, we'll discuss all the details. We'll let you know how you and your child can prepare.

By the end of your visit, you will have a care plan tailored to your child’s needs. We'll also schedule a follow-up visit in 3 months.

You'll meet our nurse practitioner (NP). You can contact our NP by phone or video conference with any concerns you have between now and your next appointment.

Before you leave, please feel free to ask us about your child's BLS diagnosis, treatment, or anything else on your mind.

How long will I need to wait for my child's BLS test results?

You will get a phone call within 2 weeks to discuss the test results and next steps for your child's BLS care.

You can also find your child's test results if you signed up for MyCHP — Children's patient portal.

MyCHP lets you manage your child's health online. It's a free service for patients, parents, and guardians of Children's Hospital of Pittsburgh of UPMC.

Partners in Your Child's BLS Care

When a child has a rare disease like bare lymphocyte syndrome, it affects the whole family.

At the Center for Rare Disease Therapy, we see each family member as our partners.

The best care approach happens when we merge our BLS expertise with your knowledge of what’s best for your child.

Contact us to learn more about BLS or make an appointment for your child:

• Phone: 412-692-7273
• Email: rarecare@chp.edu

Meet Our Patients — Center for Rare Disease Therapy

Learn how families are finding help and hope at the Center for Rare Disease Therapy at UPMC Children’s Hospital of Pittsburgh. View Center for Rare Disease Therapy patient stories. »

*Original research initiated by investigators at UPMC Children’s Hospital of Pittsburgh.