PMID- 33424983
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210702
IS  - 1740-6757 (Print)
IS  - 1740-6757 (Electronic)
IS  - 1740-6757 (Linking)
VI  - 31
DP  - 2020 Summer
TI  - Chediak-Higashi syndrome: a review of the past, present, and future.
PG  - 31-36
LID - 10.1016/j.ddmod.2019.10.008 [doi]
AB  - Since the initial description of Chediak-Higashi syndrome (CHS), over 75 years 
      ago, several studies have been conducted to underscore the role of the lysosomal 
      trafficking regulator (LYST) gene in the pathogenesis of disease. CHS is a rare 
      autosomal recessive disorder, which is caused by biallelic mutations in the 
      highly conserved LYST gene. The disease is characterized by partial 
      oculocutaneous albinism, prolonged bleeding, immune and neurologic dysfunction, 
      and risk for the development of hemophagocytic lympohistiocytosis (HLH). The 
      presence of giant secretory granules in leukocytes is the classical diagnostic 
      feature, which distinguishes CHS from closely related Griscelli and 
      Hermansky-Pudlak syndromes. While the exact mechanism of the formation of the 
      giant granules in CHS patients is not understood, dysregulation of LYST function 
      in regulating lysosomal biogenesis has been proposed to play a role. In this 
      review, we discuss the clinical characteristics of the disease and highlight the 
      functional consequences of enlarged lysosomes and lysosome-related organelles 
      (LROs) in CHS.
FAU - Sharma, Prashant
AU  - Sharma P
AD  - Undiagnosed Diseases Program, National Human Genome Research Institute, National 
      Institutes of Health, Bethesda, MD, USA.
FAU - Nicoli, Elena-Raluca
AU  - Nicoli ER
AD  - Section of Human Biochemical Genetics, Medical Genetics Branch, National Human 
      Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
FAU - Serra-Vinardell, Jenny
AU  - Serra-Vinardell J
AD  - Section of Human Biochemical Genetics, Medical Genetics Branch, National Human 
      Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
FAU - Morimoto, Marie
AU  - Morimoto M
AD  - Undiagnosed Diseases Program, National Human Genome Research Institute, National 
      Institutes of Health, Bethesda, MD, USA.
FAU - Toro, Camilo
AU  - Toro C
AD  - Undiagnosed Diseases Program, National Human Genome Research Institute, National 
      Institutes of Health, Bethesda, MD, USA.
AD  - Office of the Clinical Director, National Human Genome Research Institute, 
      National Institutes of Health, Bethesda, MD, USA.
FAU - Malicdan, May Christine V
AU  - Malicdan MCV
AD  - Undiagnosed Diseases Program, National Human Genome Research Institute, National 
      Institutes of Health, Bethesda, MD, USA.
AD  - Section of Human Biochemical Genetics, Medical Genetics Branch, National Human 
      Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
AD  - Office of the Clinical Director, National Human Genome Research Institute, 
      National Institutes of Health, Bethesda, MD, USA.
FAU - Introne, Wendy J
AU  - Introne WJ
AD  - Section of Human Biochemical Genetics, Medical Genetics Branch, National Human 
      Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
AD  - Office of the Clinical Director, National Human Genome Research Institute, 
      National Institutes of Health, Bethesda, MD, USA.
LA  - eng
GR  - Z99 HG999999/ImNIH/Intramural NIH HHS/United States
PT  - Journal Article
DEP - 20191209
PL  - Netherlands
TA  - Drug Discov Today Dis Models
JT  - Drug discovery today. Disease models
JID - 101235079
PMC - PMC7793027
MID - NIHMS1546106
OTO - NOTNLM
OT  - Chediak-Higashi syndrome
OT  - LYST
OT  - Lysosome-related organelles
OT  - Lysosomes
COIS- Conflict of interest The authors report no conflicts of interest.
EDAT- 2021/01/12 06:00
MHDA- 2021/01/12 06:01
PMCR- 2021/07/01
CRDT- 2021/01/11 05:38
PHST- 2021/01/11 05:38 [entrez]
PHST- 2021/01/12 06:00 [pubmed]
PHST- 2021/01/12 06:01 [medline]
PHST- 2021/07/01 00:00 [pmc-release]
AID - 10.1016/j.ddmod.2019.10.008 [doi]
PST - ppublish
SO  - Drug Discov Today Dis Models. 2020 Summer;31:31-36. doi: 
      10.1016/j.ddmod.2019.10.008. Epub 2019 Dec 9.