PMID- 37254856
OWN - NLM
STAT- MEDLINE
DCOM- 20230601
LR  - 20230917
IS  - 1531-7048 (Electronic)
IS  - 1065-6251 (Print)
IS  - 1065-6251 (Linking)
VI  - 30
IP  - 4
DP  - 2023 Jul 1
TI  - Chediak-Higashi syndrome.
PG  - 144-151
LID - 10.1097/MOH.0000000000000766 [doi]
AB  - PURPOSE OF REVIEW: Chediak-Higashi syndrome is a rare autosomal recessive 
      disorder characterized by congenital immunodeficiency, bleeding diathesis, 
      pyogenic infection, partial oculocutaneous albinism, and progressive 
      neurodegeneration. Treatment is hematopoietic stem cell transplantation or bone 
      marrow transplantation; however, this does not treat the neurologic aspect of the 
      disease. Mutations in the lysosomal trafficking regulator (LYST) gene were 
      identified to be causative of Chediak-Higashi, but despite many analyses, there 
      is little functional information about the LYST protein. This review serves to 
      provide an update on the clinical manifestations and cellular defects of 
      Chediak-Higashi syndrome. RECENT FINDINGS: More recent papers expand the 
      neurological spectrum of disease in CHS, to include hereditary spastic paraplegia 
      and parkinsonism. Granule size and distribution in NK cells have been 
      investigated in relation to the location of mutations in LYST. Patients with 
      mutations in the ARM/HEAT domain had markedly enlarged granules, but fewer in 
      number. By contrast, patients with mutations in the BEACH domain had more 
      numerous granules that were normal in size to slightly enlarged, but demonstrated 
      markedly impaired polarization. The role of LYST in autophagosome formation has 
      been highlighted in recent studies; LYST was defined to have a prominent role in 
      autophagosome lysosome reformation for the maintenance of lysosomal homeostasis 
      in neurons, while in retinal pigment epithelium cells, LYST deficiency was shown 
      to lead to phagosome accumulation. SUMMARY: Despite CHS being a rare disease, 
      investigation into LYST provides an understanding of basic vesicular fusion and 
      fission. Understanding of these mechanisms may provide further insight into the 
      function of LYST.
CI  - Copyright (c) 2023 Wolters Kluwer Health, Inc. All rights reserved.
FAU - Talbert, Mackenzie L
AU  - Talbert ML
AD  - Human Biochemical Genetics Section, Medical Genetics Branch.
FAU - Malicdan, May Christine V
AU  - Malicdan MCV
AD  - Human Biochemical Genetics Section, Medical Genetics Branch.
AD  - Undiagnosed Diseases Program.
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  - Human Biochemical Genetics Section, Medical Genetics Branch.
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
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20230425
PL  - United States
TA  - Curr Opin Hematol
JT  - Current opinion in hematology
JID - 9430802
RN  - 0 (Vesicular Transport Proteins)
SB  - IM
MH  - Humans
MH  - *Chediak-Higashi Syndrome/diagnosis/genetics/therapy
MH  - Vesicular Transport Proteins/genetics/metabolism
MH  - Lysosomes/metabolism
MH  - Bone Marrow Transplantation
MH  - Mutation
PMC - PMC10501739
MID - NIHMS1889743
COIS- Conflicts of interest The authors have no conflict of interest to declare.
EDAT- 2023/05/31 13:11
MHDA- 2023/06/01 06:42
PMCR- 2024/07/01
CRDT- 2023/05/31 06:03
PHST- 2024/07/01 00:00 [pmc-release]
PHST- 2023/06/01 06:42 [medline]
PHST- 2023/05/31 13:11 [pubmed]
PHST- 2023/05/31 06:03 [entrez]
AID - 00062752-202307000-00008 [pii]
AID - 10.1097/MOH.0000000000000766 [doi]
PST - ppublish
SO  - Curr Opin Hematol. 2023 Jul 1;30(4):144-151. doi: 10.1097/MOH.0000000000000766. 
      Epub 2023 Apr 25.