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.

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.

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.

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.