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CHS is a hereditary disorder brought on by a LYST gene deficiency (also called the CHS1 gene). The LYST gene instructs the body to produce the protein necessary for delivering specific substances to your lysosomes.

Some of your cells contain structures called lysosomes that degrade poisons, eliminate germs, and recycle worn-out cell parts. The LYST gene deficiency results in excessive lysosome growth. The expanded lysosomes obstruct regular cell processes. Your body cannot defend itself against recurrent infections because they inhibit cells from locating and destroying microorganisms. Melanin is produced and distributed by abnormally large, lysosome-like organelles called melanosomes in pigment cells. The pigment called melanin is what gives skin, hair, and eyes their colours. Because melanin is entrapped within the bigger cell structures, people with CHS suffer albinism.

Lack of colour in the skin, hair, and eyes is known as albinism. An exceedingly uncommon kind of partial albinism called Chediak-Higashi syndrome (CHS) also affects the nervous and immune systems. Additionally, this particular kind of albinism impairs eyesight by causing sensitivity to light, blurriness, and uncontrollable eye movements.

The inherited condition Chediak-Higashi is autosomal recessive. The defective gene is carried by both parents of a kid with this kind of genetic illness, but they typically don't exhibit symptoms themselves. The child will not have the syndrome if only one parent carries the faulty gene, but they may be a carrier. This implies that they might convey the gene to their offspring.

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This syndrome affects both innate and adaptive immunity. People who have Chediak-Higashi syndrome are prone to diseases because their immune system has been weakened and the phagocytic cells cannot properly fight off foreign invaders such as viruses and bacteria. Hence, they have reoccurring infections that are potentially life threatening.

Chediak-Higashi syndrome (CHS) affects the innate immunity as people with CHS have severely impaired cellular innate immunity because of neutropenia (low concentration of neutrophils), impaired leukocyte chemotaxis which relates to transportation or movement of neutrophils and macrophages from one site to another (also another important feature in innate immune response) and impaired killing of granulocytes and cytotoxic lymphocytes. Intracellular transport of melanin is also affected causing a skin pigmentation defect.

CHS also affects the extracellular fusion of the cytotoxic granules of a CTL or granulocyte to a target cell so cell-mediated adaptive immunity is affected as well.

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Patients with Chediak-Higashi syndrome experience problems with blood clotting which will then result in bruising easily and abnormal bleeding. In adulthood, the syndrome can also affect the nervous system,, causing weakness, clumsiness, difficulty with walking, and seizures.

If children who suffer from this disease are not properly treated, the disease will reach a stage, known as the accelerated phase, that is triggered by a viral infection. During this accelerated phase, white blood cells, that usually fight infections, divide rapidly and uncontrollably and start to invade the body’s organs. Symptoms that are associated with the acceleration stage are fever, abnormal bleeding, overwhelming infections, and organ failure. These medical problems are usually life-threatening in childhood.

A percentage of people with this disease have a milder condition that usually appears later in their life. Adults with Chediak-Higashi syndrome have less noticeable changes in pigmentation and have a lower chance of recurrence of severe infections. However, they do have a higher chance of progressive neurological problems such as tremors, difficulty with movement and balance, reduced sensation and weakness in the arms and legs, and a decline in intellectual functioning.

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Those that suffer from CHS are associated with recurrent pyogenic infections, secondary to impaired leukocyte function. Most enter an accelerated phase that leads to repeated infections and bleeding, often resulting in death. The current most effective treatment is allogenic bone marrow transplant (BMT).

From the research that I have found, there were 10 children who had undergone BMT. Seven received marrow from an HLA-identical related donor and  6 of them had successful transplant and their bodies did not reject the bone marrow. 3 received bone marrow from an HLA-nonidentical related donor where the one that did not survive died from CMV pneumonia. For the children with successful transplant, no manifestations of accelerated phases have occurred in the patients and NK activity is detectable. BMT also had prevented any re-occurrences of accelerated phases with limited numbers of donor-type leukocytes after the transplant. Furthermore, none of the patients developed toxic reactions to the BMT conditioning after a long period of time. Which shows that HLA-identical BMT is the more acceptable curative treatment for this syndrome. The treatment procedures includes busulfan and cyclophosphamide and methotrexate and cyclosporine A incase of development of graft-versus-host-disease. Upon successful transplantation, the patients would achieve a chimerism state where half of the blood cells will display CHS granules and the other half to be of the donor’s origin.