Chediak-Higashi syndrome

@article{Kaplan2008ChediakHigashiS,
  title={Chediak-Higashi syndrome},
  author={Jerry Kaplan and Ivana De Domenico and Diane M Ward},
  journal={Current Opinion in Hematology},
  year={2008},
  volume={15},
  pages={22–29}
}
Purpose of reviewChediak-Higashi syndrome, a rare autosomal recessive disorder, was described over 50 years ago. Patients show hypopigmentation, recurrent infections, mild coagulation defects and varying neurologic problems. Treatment is bone marrow transplant, which is effective in treating the hematologic and immune defects, however the neurologic problems persist. The CHS1/LYST gene was identified over 10 years ago and homologous CHS1/LYST genes are present in all eukaryotes. This review… 
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210 Citations
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210 Citations

Chediak-Higashi syndrome: a review of the past, present, and future.
Chediak-Higashi Syndrome: Novel Mutation of the CHS1/LYST Gene in 3 Omani Patients
TLDR
The report of a novel nonsense mutation of the CHS1/LYST gene in 3 Omani patients supports the allelic heterogeneity of CHS and is in line with most reported mutation types that lead to a truncated protein.
The Accelerated Phase of Chediak-Higashi Syndrome: The Importance of Hematological Evaluation
TLDR
Two patients in the accelerated phase of Chediak-Higashi syndrome had hypopigmentation of the skin with patchy grey hairs, mild coagulation defects identified via the presence of petechial rashes on the skin, and a history of recurrent infections since birth.
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
TLDR
A compound heterozygote in LYST gene, consisting of a missense mutation c.5719A’s> G and an intron mutationc.4863-4G” A, was identified from the patient by using amplicon sequencing, reported for the first time.
Parkinsonism and Other Movement Disorders Associated with Chediak‐Higashi Syndrome: Case Report and Systematic Literature Review
TLDR
A case of Chediak-Higashi syndrome with juvenile onset of parkinsonism with video documentation of the typical features and existing literature of movement disorder presentations of CHS is presented.
Chediak-Higashi syndrome: Lessons from a single-centre case series.
Novel MRI Finding of Bilateral Globus Pallidal Involvement in Accelerated Phase of Chédiak -Higashi Syndrome
TLDR
Patients with deletions in the CHS1 gene usually present with a fulminant-accelerated phase early in life, and their presence in granulocytes from peripheral blood and bone marrow forms a basis of clinical diagnosis.
Oral manifestations of Chediak-Higashi syndrome: A systematic review.
Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome
TLDR
Pfenidone, a novel compound with documented anti-inflammatory, antioxidant and antifibrotic effects, appears to hold promise in delaying or preventing fibrosis in HPS.
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References

SHOWING 1-10 OF 126 REFERENCES
Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder.
Chediak Higashi syndrome (CHS) is a rare, autosomal recessive disorder that affects multiple systems of the body. Patients with CHS exhibit hypopigmentation of the skin, eyes and hair, prolonged…
Identification and mutation analysis of the complete gene for Chediak–Higashi syndrome
TLDR
Analysis of the CHS polypeptide demonstrates that its modular architecture is similar to the yeast vacuolar sorting protein, VPS15, and this work describes the sequence of a human cDNA homologous to mouse beige, identify pathologic mutations and clarify the discrepancies of the previous reports.
Genetic Defects in Chediak–Higashi Syndrome and the beige Mouse
  • R. Spritz
  • Medicine, Biology
    Journal of Clinical Immunology
  • 2004
TLDR
Identification of the humanCHS1 gene, and the availability of a ready mouse model for human CHS, will likely facilitate investigation of the disease patho-physiology and the development of novel and specific treatments for the disorder.
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.
TLDR
Because the beige mouse demonstrates many characteristics similar to those of human CHS patients, including dilution of coat color, recurrent infections, and the presence of giant granules, it is considered the animal homologue of CHS.
Chediak-Higashi Syndrome: a rare disorder of lysosomes and lysosome related organelles.
TLDR
The identification of CHS1/Beige has defined a family of genes containing a common BEACH motif, the function of these proteins in vesicular trafficking remains unknown.
Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.
Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.
TLDR
Protein truncation tests on this gene were conducted in 8 patients with CHS, strengthening the observation of a high frequency of truncated LYST proteins as the genetic cause of CHS.
Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.
TLDR
Two homozygous CHS1 gene mutations in two of the original probands used to map the gene to 1q42-q44 support the assertion that the functional CHS protein is a predicted 3801 amino acid polypeptide encoded by a 13.5 kb mRNA.
Chediak‐Higashi Syndrome
  • Y. Barak, E. Nir
  • Medicine, Biology
    The American journal of pediatric hematology/oncology
  • 1987
The use of cytochemical, electron microscopic, immunofluorescent, and tissue culture techniques has led to important advances in our understanding of the mechanisms underlying the pathogenesis of the…
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
TLDR
This mapping confirms the previous hypothesis that the same gene defect causes Chediak-Higashi syndrome in human and beige pheno-type in mice and provides a genetic framework for the identification of candidate genes.
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