Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Towards the targeted management of Chediak-Higashi syndrome

17 Aug 2014

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autoimmune and Inflammatory Disorders Research
Share to Family and Disability Support Research
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25129365
DOI: 10.1186/s13023-014-0132-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Towards the targeted management of Chediak-Higashi syndromePMID 25129365Read ↗

Chedíak-Higashi Syndrome: Hair-to-toe spectrum.Semantic proximity Read ↗

Diagnosis of Chediak Higashi disease in a 67-year old woman.Semantic proximity Read ↗

Chediak-Higashi syndromeSemantic proximity Read ↗

Chediak-Higashi syndrome.Semantic proximity Read ↗

Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.Semantic proximity Read ↗

Clinical Manifestations and Genetic Findings in Three Patients with Chediak-Higashi Syndrome: Highlighting the Splice Site Variants.Semantic proximity Read ↗

Clinical Manifestations and Immunologic Features of Chediak–Higashi Syndrome: A 12-Year National Registry Study from IranSemantic proximity Read ↗

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.Semantic proximity Read ↗

Apparent genotype–phenotype correlation in childhood, adolescent, and adult Chediak‐Higashi syndromeSemantic proximity Read ↗

Case Report: Genetically primed hyperinflammation: cytomegalovirus-triggered HLH-like syndrome in an adolescent with a gain-of-function STING1 (p.Arg281Trp) variant with novel autosomal dominant inheritance and atypical presentation.Semantic proximity Read ↗

Accelerated phase development in a late-onset adolescent Chediak-Higashi syndrome patient caused by compound novel LYST mutations in the setting of SARS-CoV-2 infection.Semantic proximity Read ↗

Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.