BACKGROUND: Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive 
disorder characterized by immunodeficiency, neurological dysfunction, and 
oculocutaneous albinism. Recently, several clinical CHS phenotypes have been 
reported. Here, we report results of a nationwide survey performed to clarify 
clinical characteristics and outcomes of CHS patients in Japan.
METHODS: Questionnaires were sent to 287 institutions to collect data regarding 
CHS patients diagnosed between 2000 and 2010, including results of lysosomal 
trafficking regulator (LYST) gene analysis. Cytotoxicity and degranulation 
activity of cytotoxic T lymphocytes were analyzed in available patient samples.
RESULTS: A total of 15 patients diagnosed with CHS were eligible for enrollment 
in this study. Of these, 10 (67%) had recurrent bacterial infections, five (33%) 
developed life-threatening hemophagocytic lymphohistiocytosis (HLH), and one 
patient had complicated malignant lymphoma. Hematopoietic stem cell 
transplantation (HSCT) was performed for six patients including three with HLH, 
and 10 of the enrolled patients have survived at the time of this writing. LYST 
analysis was performed for 10 patients; seven different mutations were detected 
in seven patients, whereas no mutation was identified in three patients. 
Cytotoxicity and degranulation activity were impaired in patients with and 
without LYST mutation.
DISCUSSION: Results of this survey indicate that one or two patients with CHS 
were newly diagnosed each year in Japan. The incidence of HLH was not as high as 
expected. Mutations of genes other than LYST were suspected in some cases. We 
conclude that determining indication for HSCT for CHS patients should be based 
on genetic and cytotoxic analysis.