PMID- 23804531
OWN - NLM
STAT- MEDLINE
DCOM- 20131101
LR  - 20130809
IS  - 1545-5017 (Electronic)
IS  - 1545-5009 (Linking)
VI  - 60
IP  - 10
DP  - 2013 Oct
TI  - Clinical characteristics and outcomes of chediak-Higashi syndrome: a nationwide 
      survey of Japan.
PG  - 1582-6
LID - 10.1002/pbc.24637 [doi]
AB  - BACKGROUND: Chediak-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.
CI  - Copyright (c) 2013 Wiley Periodicals, Inc.
FAU - Nagai, Kozo
AU  - Nagai K
AD  - Department of Pediatrics, Ehime University Graduate School of Medicine, Toon, 
      Japan.
FAU - Ochi, Fumihiro
AU  - Ochi F
FAU - Terui, Kiminori
AU  - Terui K
FAU - Maeda, Miho
AU  - Maeda M
FAU - Ohga, Shouichi
AU  - Ohga S
FAU - Kanegane, Hirokazu
AU  - Kanegane H
FAU - Kitoh, Toshiyuki
AU  - Kitoh T
FAU - Kogawa, Kazuhiro
AU  - Kogawa K
FAU - Suzuki, Nobuhiro
AU  - Suzuki N
FAU - Ohta, Shigeru
AU  - Ohta S
FAU - Ishida, Yasushi
AU  - Ishida Y
FAU - Okamura, Takayuki
AU  - Okamura T
FAU - Wakiguchi, Hiroshi
AU  - Wakiguchi H
FAU - Yasukawa, Masaki
AU  - Yasukawa M
FAU - Ishii, Eiichi
AU  - Ishii E
LA  - eng
PT  - Clinical Trial
PT  - Journal Article
PT  - Multicenter Study
PT  - Research Support, Non-U.S. Gov't
DEP - 20130627
PL  - United States
TA  - Pediatr Blood Cancer
JT  - Pediatric blood & cancer
JID - 101186624
RN  - 0 (LYST protein, human)
RN  - 0 (Vesicular Transport Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - *Chediak-Higashi 
      Syndrome/complications/diagnosis/genetics/mortality/pathology/therapy
MH  - Child
MH  - Child, Preschool
MH  - Data Collection
MH  - Disease-Free Survival
MH  - Female
MH  - *Hematopoietic Stem Cell Transplantation
MH  - Humans
MH  - Infant
MH  - Japan/epidemiology
MH  - *Lymphohistiocytosis, 
      Hemophagocytic/diagnosis/etiology/genetics/mortality/pathology/therapy
MH  - *Lymphoma/diagnosis/etiology/genetics/mortality/pathology
MH  - Male
MH  - Retrospective Studies
MH  - Survival Rate
MH  - Transplantation, Homologous
MH  - Vesicular Transport Proteins/*genetics
OTO - NOTNLM
OT  - Chediak-Higashi syndrome
OT  - cytotoxic T lymphocyte
OT  - degranulation activity
OT  - lysosomal trafficking regulator (LYST) gene
EDAT- 2013/06/28 06:00
MHDA- 2013/11/02 06:00
CRDT- 2013/06/28 06:00
PHST- 2013/04/12 00:00 [received]
PHST- 2013/05/07 00:00 [accepted]
PHST- 2013/06/28 06:00 [entrez]
PHST- 2013/06/28 06:00 [pubmed]
PHST- 2013/11/02 06:00 [medline]
AID - 10.1002/pbc.24637 [doi]
PST - ppublish
SO  - Pediatr Blood Cancer. 2013 Oct;60(10):1582-6. doi: 10.1002/pbc.24637. Epub 2013 
      Jun 27.