True about Chediak Higashi syndrome is: March 2007
Ans. B: Impaired bacteriolysis Chediak-Higashi syndrome is a rare autosomal recessive disorder that affects multiple systems of the body, and arises from a mutation in the lysosomal trafficking regulator gene, LYST. It is a disease with impaired bacteriolysis due to failure of phagolysosome formation. As a result of disordered intracellular trafficking there is impaired lysosome degranulation with phagosomes, so phagocytosed bacteria are not destroyed by the lysosome's enzymes. In addition, secretion of lytic secretory granules by cytotoxic T cells is also affected. The disease is characterised by large lysosome vesicles in phagocytes (neutrophils), which thus have poor bactericidal function, leading to susceptibility to infections, abnormalities in nuclear structure of leukocytes, anemia, and hepatomegaly. There are several manifestations of Chediak-Hegashi syndrome. However neutropenia seems to be the most common. The syndrome is also associated with oculocutaneous albinism Persons are also prone for infection, especially with Staphylococcus aureus. Associated features: Abnormalities in melanocytes (albinism), nerve defects, bleeding disorders.
Neutrophilia
Impaired bacteriolysis
Autosomal dominant
Associated with polycythemia