Bare Lymphocyte Syndrome

Bare lymphocyte syndrome type 1


Type of disease: Rare conditions

Bare Lymphocyte Syndrome Type I is a rare disorder that affects the immune system. Our immune system usually works to defend our bodies from infection, but in this condition, the body cannot be protected from bacteria or viruses. Usually beginning in childhood, individuals affected have infections in their lungs and airways, as well as open sores on their face, arms, and legs, though some individuals show no symptoms. Those affected by this disorder do not develop like they should and get serious infections that do not respond to medications.

Bare lymphocyte syndrome type I is a genetic condition caused by a change (mutation) in the TAP1 or TAP2 genes. Each person has two copies of every gene, one from mom and one from dad. When there are changes in the TAP1 or TAP2 genes, the complex that helps with the body’s immune response to bacteria does not work properly, so individuals get many bacterial infections.  Bare lymphocyte syndrome is passed down from parent to child in an autosomal recessive manner, which means one mutation from each parent is needed to cause symptoms. A person with only one mutation is called a carrier because they “carry” one changed copy and one unchanged copy of the gene.  Carriers also show no signs or symptoms of the condition. If both parents are carriers, each of their children has a one in four chance (25%) of having the condition and a 50/50 chance of being a carrier.

The only treatment that currently exists for individuals with bare lymphocyte syndrome type I is a bone marrow transplant, which is when the cells in your body that produce blood cells are replaced with those of a donor. If you or a family member has been diagnosed with bare lymphocyte syndrome type I, talk with your doctor about the most current treatment options.

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