Chediak-Higashi syndrome

Chediak-Higashi syndrome (CHS) is characterized by oculo-cutaneous albinism, silvery-blond hair, ganglion hypertrophy, hepatosplenomegaly, and recurrent purulent skin and respiratory infections.

The symptoms occur due to a malfunction of the polymorphonuclear leucocytes and a lack of natural killer lymphocytes. 

The inheritance is autosomal recessive. The CHS gene is located on the long arm of chromosome 1, in the region 1q42.1-q42.2.

The cause is due to the mutation in the gene for the LYST protein. This leads to a defective microtubule and lysosomal function, resulting in impaired phagocytic lysosome formation. The white blood cells can not properly destroy bacteria in their lysosomes, resulting in deficient bacteriolysis.

The life expectancy of affected persons is severely limited.