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| DiseaseID |
HGD62 |
| Genetic
Disorder |
Autoimmune_Lymphoproliferative
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| Gene
Name |
Fas (TNF receptor superfamily, member 6) |
| Description |
ALPS is a rare disease that affects both children and adults. ALPS stands for Autoimmune LymphoProliferative (lim-fo-pro-lif'-er-a-tive) Syndrome. Each of these three words helps describe the main features of this condition. The word autoimmune (self-immune) identifies ALPS as a disease of the immune system. The tools used to fight germs turn against our own cells and cause problems. The word lymphoproliferative describes the unusually large numbers of white blood cells (called lymphocytes (lim'-fo-sites)) stored in the lymph nodes and spleens of people with ALPS. The word syndrome refers to the many common symptoms shared by ALPS patients. At this time doctors are still learning about ALPS. Based on our experience, we believe the following to be true:
ALPS is a disorder that develops in early childhood.
ALPS is not cancer; it is not contagious; it is not AIDS.
There is a wide spectrum of illness in ALPS. For some, it is very mild; for others, it is more severe.
Once a person has ALPS, he or she does not become sicker and sicker over time. In fact, the problems seem to improve as children get to be teenagers and young adults.
Most people with ALPS have episodes of autoimmune problems. These can happen at any age, but they appear worse in childhood.
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| Symptoms |
To better understand how ALPS works, imagine that you have a respiratory infection, perhaps the flu. The cells in the nose and throat send out a message to the immune system to start making more lymphocytes to fight the flu. New troops of lymphocytes come to the nose and throat to seek out and destroy the cells infected with the flu virus. Once the virus is conquered, the lymphocytes get a message that their job is done and they are no longer needed. At this point, it is normal for most of the fighter cells to disintegrate through a process called apoptosis (a-pop-TO-sis). The immune systems of people with ALPS are efficient in fighting germs. The problem in ALPS happens after an infection is gone. In ALPS, apoptosis does not work as well as it should. In other words, the troops (lymphocytes) don't hear the message that the war is over. As a result, excess T and B cells gather in the lymph glands, liver and spleen. We can detect the extra cells in people with ALPS by looking for high numbers of double-negative T cells. In general, these extra T cells don't cause a problem. Sometimes in ALPS, the B cells make a mistake. Instead of making antibodies to be custom-designed against germs, the B cells make antibodies against platelets, red blood cells, or other cells. This causes autoimmune problems. The antibodies become stuck to the platelets and red blood cells, which then get stuck in the spleen. The spleen has to work extra hard to filter out the sticky cells. This is another reason why the spleen gets so big.
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| Causes |
To better understand how ALPS works, imagine that you have a respiratory infection, perhaps the flu. The cells in the nose and throat send out a message to the immune system to start making more lymphocytes to fight the flu. New troops of lymphocytes come to the nose and throat to seek out and destroy the cells infected with the flu virus. Once the virus is conquered, the lymphocytes get a message that their job is done and they are no longer needed. At this point, it is normal for most of the fighter cells to disintegrate through a process called apoptosis (a-pop-to'-sis).
The immune systems of people with ALPS are efficient in fighting germs. The problem in ALPS happens after an infection is gone. In ALPS, apoptosis does not work as well as it should. In other words, the troops (lymphocytes) donŐt hear the message that the war is over. As a result, excess T and B cells gather in the lymph glands, liver and spleen. We can detect the extra cells in people with ALPS by looking for high numbers of double-negative T cells. In general, these extra T cells donŐt cause a problem.
Sometimes in ALPS, the B cells make a mistake. Instead of making antibodies to be custom-designed against germs, the B cells make antibodies against platelets, red blood cells, or other cells. This causes autoimmune problems. The antibodies become stuck to the platelets and red blood cells, which then get stuck in the spleen. The spleen has to work extra hard to filter out the sticky cells. This is another reason why the spleen gets so big. |
| Diagnosis |
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| Treatment |
There is no cure for ALPS. However, we can treat and prevent most of its complications. Management of ALPS involves:
Diagnosis. You probably know from experience that this may take months or years until you find a doctor who recognizes the features of ALPS.
Counseling and education. The more you know about ALPS and how to recognize its symptoms and signs, the better you will be able to manage it.
Knowing what's treatable. Unfortunately, we have not found ways to permanently make the swelling of lymph nodes go down or to fix the problem with apoptosis (see What Happens in ALPS).
Therapies. Complications of ALPS, including the many different autoimmune problems, can be treated successfully. ALPS can be managed through close communication with doctors as symptoms and signs arise. |
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