ReviewOrphanet journal of rare diseases2014
Towards the targeted management of Chediak-Higashi syndrome.
Review in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
26 citing papers in PubMed, 77 citations in OpenAlex.
- The prevalence of epidermal skin malignancies in people living with oculocutaneous albinism attending the Universitas Academic Hospital, Bloemfontein, South Africa.Dermatology reports · 2026Article
- Diffusion tensor imaging in Chediak Higashi Disease.medRxiv : the preprint server for health sciences · 2025Article
- Comprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome.BMC medical genomics · 2025Article
- Skin Hypopigmentation in Hematology Disorders.Hematology reports · 2024Review
- Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report.Advances in laboratory medicine · 2024Article
- Article
- Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective.European journal of pediatrics · 2023Article
- Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders.Journal of clinical immunology · 2023Review
- Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion.PloS one · 2022Article
- Understanding neutropenia secondary to intrinsic or iatrogenic immune dysregulation.Hematology. American Society of Hematology. Education Program · 2021Article
- Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.Archivum immunologiae et therapiae experimentalis · 2021Article
- Inherited Platelet Disorders: An Updated Overview.International journal of molecular sciences · 2021Review
- The Role of the Cytoskeleton in Regulating the Natural Killer Cell Immune Response in Health and Disease: From Signaling Dynamics to Function.Frontiers in cell and developmental biology · 2021Review
- Neutropenia in the age of genetic testing: Advances and challenges.American journal of hematology · 2019Review
- High-throughput Measurement of Plasma Membrane Resealing Efficiency in Mammalian Cells.Journal of visualized experiments : JoVE · 2019Article
- Flow Cytometry Contributions for the Diagnosis and Immunopathological Characterization of Primary Immunodeficiency Diseases With Immune Dysregulation.Frontiers in immunology · 2019Review
- Definition of Opportunistic Infections in Immunocompromised Children on the Basis of Etiologies and Clinical Features: A Summary for Practical Purposes.Current pediatric reviews · 2019Review
- An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome.The Journal of allergy and clinical immunology · 2018Observational
- Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.Haematologica · 2018Article
- [Umbilical cord blood transplantation in the treatment of Chediak-Higashi syndrome with hemophagocytic syndrome: a case report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive congenital immunodeficiency caused by mutations in CHS1, a gene encoding a putative lysosomal trafficking protein. In the majority of patients, this disorder is typically characterized by infantile-onset hemophagocytic lymphohistiocytosis (HLH), which is lethal unless allogeneic transplantation is performed. A small number of individuals have the attenuated form of the disease and do not benefit from transplant. Improved outcomes of transplantation have been reported when performed before the development of HLH, thus it is important to quickly differentiate patients that present with the childhood form of disease and to prematurely enroll them into a transplantation protocol. In addition, this would also preclude those that exhibit clinical phenotypes of adolescent and adult CHS from this treatment. Patients with an absence of cytotoxic T lymphocyte (CTL) function have a high risk for developing HLH, and could therefore benefit the most from early hematopoietic stem cell transplantation (HSCT). However, although normal CTL cytotoxicity or bi-allelic missense mutations do not exclude the occurrence of HLH in childhood, a more conservative approach is justified. This article summarizes recent advances in the clinical characterization of CHS patients, provides updates on promising new testing methods, and focuses on specific therapeutic approaches.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.