“Chédiak-Higashi syndrome is an autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport,” (Nowicki ,“Chediak-Higashi Syndrome,” para.2). It is caused by mutations of the LYST gene which is also known as the CHS1 gene. This gene makes “a protein known as the lysosomal trafficking regulator,” (Genetics Home Reference, January 2014). They cause the lysosome to enlarge which ultimately causes problems with normal cell function. “Patients with Chédiak-Higashi syndrome exhibit alterations in neutrophils. These alterations include neutropenia, which may be profound; decreased deformability, resulting in impaired chemotaxis; and delayed phagolysosomal fusion, resulting in impaired bactericidal activity.” (“Chediak-Higashi Syndrome Clinical Presentation,” 3/5/13, Causes para. 2). Chediak-Higashi syndrome can also be called: CHS and oculocutaneous albinism with leukocyte defect.
People of any race and gender can develop this disease. Both parents must carry the gene for the child to be born with it. The parents that carry the gene will not show …show more content…
The classic form is strictly a congenital disease. Approximately 85% of children in this form progress into an accelerated phase which is the result of the white blood cells repeatedly dividing which can end up causing fever, abnormal bleeding, serious infections, enlargement of organs such as the liver, spleen, and lymph nodes, and ultimately organ failure. (“As Rare as it Gets: Chediak Higashi Syndrome,” 8/15/12, para. 12). The late-onset form develops during late childhood-adulthood. The late-onset also has less severe symptoms than the classic form. People that have been diagnosed with the late-onset form end up having nervous system problems which include seizures, tremors, difficulty walking, and tend to be more clumsy. People with the late-onset can also develop dementia and
People of any race and gender can develop this disease. Both parents must carry the gene for the child to be born with it. The parents that carry the gene will not show …show more content…
The classic form is strictly a congenital disease. Approximately 85% of children in this form progress into an accelerated phase which is the result of the white blood cells repeatedly dividing which can end up causing fever, abnormal bleeding, serious infections, enlargement of organs such as the liver, spleen, and lymph nodes, and ultimately organ failure. (“As Rare as it Gets: Chediak Higashi Syndrome,” 8/15/12, para. 12). The late-onset form develops during late childhood-adulthood. The late-onset also has less severe symptoms than the classic form. People that have been diagnosed with the late-onset form end up having nervous system problems which include seizures, tremors, difficulty walking, and tend to be more clumsy. People with the late-onset can also develop dementia and