2023年7月24日 · Chediak Higashi syndrome (CHS) is an autosomal recessive disorder that is characterized by easy bruising, oculocutaneous albinism and recurrent pyogenic infections. The defect is caused by a mutation in the lysosomal trafficking regulator protein that leads to decreased phagocytosis and predisposition to recurrent bacterial infection.

Chédiak–Higashi syndrome [1] (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, [2] which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy.

2009年3月3日 · Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, a mild bleeding tendency, and late adolescent- to adult-onset neurologic manifestations (e.g., learning difficulties, peripheral neuropathy, ataxia, and …

Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria.

Chediak-Higashi syndrome (CHS; MIM #214500) is a rare, autosomal recessive disorder characterized by recurrent bacterial infections including pyogenic infections, oculocutaneous albinism that is present to a variable extent, progressive neurologic abnormalities, mild coagulation defects, and a high risk of developing hemophagocytic ...

Chediak-Higashi syndrome is a genetic syndrome that affects the immune system, as well as other parts of the body. Signs and symptoms include a weakened immune system, repeated and persistent infections beginning in infancy and childhood, oculocutaneous albinism, blood clotting problems, and nervous system abnormalities (e.g., weakness ...

2015年8月18日 · Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder that usually occurs in childhood characterized by reduced pigment in the skin and eyes (oculocutaneous albinism), immune deficiency with an increased susceptibility to infections, and a tendency to bruise and bleed easily.

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by congenital immunodeficiency, bleeding diathesis, pyogenic infection, partial oculocutaneous albinism, and progressive neurodegeneration.

Chédiak-Higashi syndrome is a very rare hereditary immunodeficiency disorder characterized by recurrent bacterial respiratory and other infections and lack of pigment in the hair, eyes, and skin (albinism). People with Chédiak-Higashi syndrome usually have pale skin, light-colored or white hair, and pink or pale blue-gray eyes.

Chédiak-Higashi syndrome is a rare, autosomal recessive immunodeficiency disorder characterized by impaired lysis of phagocytized bacteria, resulting in recurrent bacterial respiratory and other infections and oculocutaneous albinism.