Catalog

Chédiak-Higashi syndrome

No MMS code

Link to WHO Definition

Chédiak-Higashi syndrome – http://id.who.int/icd/entity/880927849

This syndrome is caused by mutations in the LYST gene. It consists of partial OCA, immunodeficiency, mild bleeding tendency and lymphoproliferative infiltration of bone marrow and reticuloendothelial system.