LSDDB

Chediak-Higashi syndrome (CHS)

This disease is particularly affects the immune system causing affected patients to be vulnerable to persistent infections. This is caused due to the mutations in lysosomal trafficking regulator. The gene encoding the protein is LYST/CHS gene located at 1q42-q43 (Raas-Rothschild et al., 1999).

Reference :
Raas-Rothschild, A. et al. (1999) ‘Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population’, European Journal of Human Genetics, 7(4), pp. 496–498. doi: 10.1038/sj.ejhg.5200277.