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… Expand
Chediak-Higashi syndrome: a review of the past, present, and future.
TLDR
The clinical characteristics of the disease are discussed and the functional consequences of enlarged lysosomes and LROs (LROs) in CHS are highlighted and dysregulation of LYST function in regulating lysOSomal biogenesis has been proposed to play a role. Expand
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. Expand
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. Expand
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. Expand
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. Expand
Chediak-Higashi syndrome: Lessons from a single-centre case series.
TLDR
Thirty years of follow up showed an improvement in the prognosis in patients with Chediak-Higashi syndrome, and the better understanding of the underlying biological mechanisms of HLH allowed the standardization of management protocols, resulting in survival improvement. Expand
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. Expand
Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.
TLDR
A case of CHS is reported in a 2-year-old boy who presented in the accelerated phase of the disease and diagnosis was made on the basis of clinical characteristics, hair analysis, and identification of pathognomonic giant azurophilic granules in peripheral blood and bone marrow. Expand
Chediak-Higashi Syndrome With Epstein-Barr Virus Triggered Hemophagocytic Lymphohistiocytosis: A Case Report
TLDR
The patient was in advanced stage of HLH induced by an Epstein-Barr virus (EBV) infection and given etoposide, cyclosporine and dexamethasone according to hemophagocytic lymphohistiocytosis (HLH)-2004 protocol but did not survive. Expand
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. Expand
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References

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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, prolongedExpand
Genetic Defects in Chediak–Higashi Syndrome and the beige Mouse
  • R. Spritz
  • Biology, Medicine
  • 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. Expand
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. Expand
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. Expand
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. Expand
Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.
TLDR
An adopted infant who is compound heterozygous for two novel CHS1 gene mutations, both of which are predicted to result in truncated proteins are described, which had absolutely no cytotoxicity by natural killer cells or cytotoxic lymphocytes prior to his allogeneic SCT. Expand
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. Expand
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. Expand
Chediak‐Higashi Syndrome
  • Y. Barak, E. Nir
  • Medicine
  • 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 theExpand
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. Expand
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