Sunday, 31 August 2003
Last Updated Tuesday, 23 November 2004
Additional entries in our database that you might find useful:
Severe Combined Immunodeficiency (SCID)
What
Bare lymphocyte syndrome is a rare inherited immune disease that is one form of a more general disorder known as severe combined
immunodeficiency (SCID). SCID is known to cause severe T and B-cell dysfunction where the lymphocyte cell number is either normal or slightly reduced. T and B
cells are
immune system cells that play a vital role in defending the body against everyday attacks by viruses and
bacteria. As a result of this disease, children develop recurrent viral and bacterial infections, which can lead to lung disease, chronic diarrhea and growth impairment.
Who
Bare lymphocyte syndrome begins in early infancy, and is genetic in nature. This disorder occurs when two broken copies of a
gene, one from the mother and one from the father, come together and their combined defects create a disease state. Since we have two copies of every
gene, two inadequate genes must combine for this disorder to be present, and this is called an
autosomal recessive disease. This disease is quite rare, with less than 100 cases being reported worldwide. Most patients are of North African descent, though the disorder has been found in all ethnic groups.
Signs and Symptoms
The symptoms experienced by a child with bare lymphocyte syndrome result not from the disorder itself, but from infection that cannot be controlled because the
immune system is deficient. Symptoms include the following: Chronic diarrhea and subsequent dehydration. Decreased weight, height and head circumference compared to other children of the same age on standardized growth charts Recurring episodes of
pneumonia and bronchitis. Problems with the liver and spleen. Chronic fatigue and tiredness.
Possible Causes
This disease is caused by 4 damaged proteins that are involved in the regulation of a molecule known as HLA class II that normally presents pieces of viruses and
bacteria and other enemies of the
immune system to immune
cells. When this occurs, the body’s ability to defend these attacks is severely weakened.
Diagnosis
Your doctor may diagnose bare lymphocyte syndrome as part of an evaluation for severe recurrent infections. With this disorder, tests may show a slightly reduced number of
lymphocytes along with a decreased ability to make antibodies.
Treatment
Since the
immune system of children with this disease is greatly weakened, children need to be protected from infection as much as possible. Currently, the only therapy that promises a lasting improvement is
bone marrow transplant, which replenishes the body with immune
cells that are functional. Some medications, such as co-trimoxazole and intravenous immunoglobulins (IVIG), are used to prevent infections while waiting for the
bone marrow transplant to take place.
Prognosis
Bare lymphocyte syndrome, if left untreated, will result in death from overwhelming infections within the first two years of life. In the case of a successful
bone marrow transplant, the child can survive to adulthood, and potentially have a normal life expectancy.
Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease,
please fill out this brief form.
Weblinks
National Primary
immunodeficiency Resource Center. Search for Severe combined
immunodeficiency syndrome. http://npi.jmfworld.org/patienttopatient/index.cfm?section=patienttopatient&content=syndromes&area=6&CFID=3169571&CFTOKEN=2854607 Nicely written educational information on the disease. Immune Deficiency Foundation http://www.primaryimmune.org/ A website with lots of general information about immune deficiencies, a patient handbook, and information about research. Hard to navigate, but useful.
Google Search for Bare Lymphocyte Syndrome
References and Sources
www.orpha.net www.emedicine.com npi.jmfworld.org/patienttopatient/index.cfm?section=patienttopatient&content=syndromes&area=6&CFID=3169571&CFTOKEN=2854607
